Revise Notes Pd

Question 1

Epiglottitis

Pathophysiology

Infection with resultant inflammation of the epiglottis, which can result in airway obstruction

Causes: HIb (now rare due to vaccination), Now most commonly streptococcus (S.pneumoniae or pyogenes)

Answer 1

Clinical features

Usually effects children 2-7yrs
Abrupt onset of sore throat, odynophagia
Fever

Continuous stridor with drooling of saliva/secretions
Muffled voice

Tripod position/sit leaning forwards - to ease breathing
Breathing is often tentative - typically not a marked tachypnoea

Management

May require ET intubation if severe obstruction
IV Cefotaxime/cefuroxime

Question 2

Croup (Acute Laryngotracheobronchitis)

Pathophysiology

A viral URTI resulting in inflammation ( +/-obstruction) and subglottic oedema of the larynx, trachea and bronchi

Cause: Parainfluenza virus (Alt: RSV)
Incidence:

Children usually between 6 months and 6 yrs old.
Clinical features

Prevalence: Mostly affects children from 6 months to 3 years of age

May be a 24-72 hour history of prodromal URTI - coryzal symptoms
Followed by abrupt/sudden onset of harsh, barking cough (seal-like)

which is worse at night or when child becomes agitated

Hoarse voice

On examination, there may be:
Stridor
Respiratory distress, sternal/intercostal recession

Question 3

Croup

Classification

Mild – Seal-like barking cough but NO stridor
Moderate – Stridor and sternal recession at rest
Severe - Stridor and intercostal recession + agitation/ lethargy

Answer 3

Management

All children: Single dose of oral dexamethasone (0.15mg/kg) (alt: IM dex, or inhaled budesonide)

Admit any child with moderate or severe croup as above
In addition to dex, nebulised adrenaline may be beneficial

Question 4

Whooping Cough – Bordetella Pertussis

Aetiology

Bordetella pertussis - causes acute bronchitis with cough and fever.
Clinical features

Bimodal age distribution – 1st peak - infants, 2nd peak > 14yrs

Whooping cough follows a distinct disease course, made up of 3 phases:
Catarrhal – 1-2 wks: mild symptoms – fever, cough, coryza
Paroxysmal – 2-6 wks:

Sudden, severe fits of coughing, followed by periods without cough (referred to as paroxysmal cough).

Coughing is associated with a loud inspiratory whoop (due to inspiration against a closed glottis), vomiting or fainting due to severity of coughing fits

.
Convalescent – 2-4 wks: gradual resolution of symptoms

Known as the ‘100-day cough’ as symptoms can last for months.

Question 5

Whooping Cough – Bordetella Pertussis

Aetiology

Bordetella pertussis - causes acute bronchitis with cough and fever

Answer 5

Diagnosis

Nasal swab with PCR/bacterial culture
After 2 weeks of symptoms, anti-pertusis toxin IgG will be positive (oral fluid sample if < 16)

Management

ABx
1st line - Macrolide - Clarithromycin (or erythromycin if pregnant)
2nd line - Co-trimoxazole if macrolide CI/not tolerated.

Notifiable disease - inform PHE, plus:
Patients should be isolated for 5 days
Consider prophylactic ABx to close contacts

Question 6

Viral-induced wheeze

Pathophysiology

Young children have small airways
Infection causes inflammation/oedema of the airways, and smooth muscle constriction,

which causes a wheeze (which doesn’t occur in older children/adults due to their larger airways).

Answer 6

Clinical features

The diagnosis of viral-induced wheeze (VIW) should be considered in children between six months and five years who develop wheezing, in the context of viral infection only.

VIW tends to resolve by the age of 6 in most children.

Age typically < 4 years
Viral symptoms - cough, coryza
Followed by onset of shortness of breath, increased WOB/RD and expiratory wheeze

It can be differentiated from asthma as symptoms only occur during viral infections (and not in response to other triggers),

the age of onset is often 3 or less, and there is no history of atopy.
Management

SABA

Question 7

Acute Bronchiolitis

The commonest lung infection in infants.

Cause: Respiratory syncytial virus (adenovirus, parainfluenza, mycoplasma)

Clinical features

Incidence
Age: usually affects those <1yr (mostly < 6/12)
Occurs during the winter months
Symptoms

Coryzal symptoms followed by cough
Fever (sometimes, normally < 39 – if
> consider CXR secondary bact. Inf.)

Examination findings
Bilateral, widespread wheeze and crepitations

Signs of Respiratory distress, Intercostal/ subcoastal recession, nasal flaring, grunting, tracheal tug
Apnoeic episodes

Answer 7

Management

The management of bronchiolitis is generally supportive, ensuring adequate oxygenation and nutritional intake.

Breathing - supplemental O2 if sats < 92%, ventilatory support if required.

Feeding - fluids/nutrition via NG tube / IV if required

Prevention
Palivizumab - a monoclonal antibody vs RSV, that can be given to high risk babies.

Question 8

NAI

Answer 8

Non-Accidental Injury
Key learning

Common in infants/toddlers.
Risk factors: parental substance abuse, psychological illness, domestic violence.
Signs: unexplained bruises, specific fractures, intracranial injuries.
Symptoms: irritability, developmental delays.

Differentials: coagulopathy, osteogenesis imperfecta.

Management: escalate to senior, ensure child safety, report to safeguarding authorities, multidisciplinary approach.

Question 10

Epidemiology

More common in infants and toddlers but can occur at any age.

Risk Factors

Parental substance abuse
Parental psychological illness
Domestic violence, social isolation, and previous involvement with child protective services.

Questions to Ask During History

Any unexplained injuries or bruises?
Has the child had any fractures or burns recently?

Are there any concerns about the child’s development or behavior?

Any history of domestic violence or substance abuse in the household?

Is there a history of involvement with child protective services?

Answer 10

Signs

Unexplained bruises/bites/burns
Fractures at different stages of healing
Specific fractures

Metaphyseal corner fractures – considered pathognomonic of NAI
Occult rib fractures (due to squeezing/shaking)

Spiral fractures (due to twisting forces)
Intracranial injuries especially under 3 years old

Patterned injuries (e.g., belt marks)
Retinal hemorrhages
Failure to thrive in infants
Excessive crying

Symptoms

Often vague such as:
Irritability
Feeding difficulties
Recurrent injuries
Developmental delays.

Psychological signs such as anxiety or depression
New urinary incontinence

Differentials

Coagulopathy
Osteogenesis imperfecta

Question 11

NAI

Answer 11

Imaging

Royal College of Radiologists have produced professional guidance on imaging when NAI is suspected (see reference below)

Most commonly involves skeletal survey which can be repeated in 10-14 days

Management

Escalate to a senior if suspecting NAI
Involves a multidisciplinary approach, including medical, social work, and legal teams.

Immediate safety of the child is paramount.

Suspected cases must be reported to safeguarding authorities for further evaluation and intervention.

Collaboration with child protection services and follow-up support for the child and family are essential components of management.

Question 12

Neonatology
Transient tachypnoea of the newborn

Answer 12

Meconium aspiration syndrome

Respiratory Distress Syndrome (Hyaline Membrane Disease)

Necrotizing Enterocolitis

Question 13

Necrotizing Enterocolitis

Clinical features

Most common in the second week after birth
Early symptoms: Vomiting, poor feeding and abdominal distension

Late features: Increasing abdominal tenderness, blood/mucus in stool, perforation + peritonitis

Imaging

AXR - Distended loops of bowel with thickening of the bowel wall +/- intramural gas, or gas in the biliary tract
Management

IV antibiotics, supportive measures +/- surgical resection/repair

Answer 13

Overview

The most common GI emergency occurring in neonates.

A combination of bacterial infection and ischaemia with an exaggerated immune response results in inflammation of the bowel, resulting in variable damage to GIT from mucosal injury to intestinal necrosis.

Typically occurs in underweight, premature, formula fed neonates in 2nd-3rd week of life

Question 14

Respiratory Distress Syndrome (Hyaline Membrane Disease)

Pathophysiology

RDS occurs due to a deficiency of surfactant.
Surfactant is produced by type 2 pneumocytes and reduces surface tension, increasing alveolar compliance.

Deficiency therefore results in widespread alveolar collapse and impaired gas exchange.

Surfactant production begins at week 24-28 weeks, and most babies have produced enough by 34 weeks.

Prematurity is therefore the primary RF - 50% babies born between 28-32 weeks will have RDS

Answer 14

Prevention

Corticosteroids given to the mother antenatally stimulate foetal surfactant production and are therefore given if preterm delivery is anticipated.

Assessment & Management

Typically present at delivery or within 4hrs of birth with:
Tachypnoea (>60b/m)
Signs of RD/ increased WIB – nasal flaring, chest wall recession (subcostal/sternal).

Expiratory grunting – caused by attempts to create positive airway pressure during expiration and maintain functional residual capacity

Cyanosis and low SpO2
CXR
Diffuse granular / ground glass appearance
Prominent air bronchograms

Management
Supportive - O2/CPAP/invasive ventilation
Surfactant instillation via tracheal tube

Question 15

Meconium aspiration syndrome

Pathology

MAS affects 5% of term infants with meconium stained liquor.

Foetal stress during labour (e.g. hypoxia) results in the passing of meconium, and gasping in utero. This combination aspiration of meconium.

Meconium aspiration:
Inhibits surfactant
Causes obstruction to the respiratory tract
Induces pneumonitis

Answer 15

Clinical features

Respiratory distress very soon after birth

Associated with pulmonary air leaks and PPHN

CXR
Hyperinflation
Patchy collapse/ consolidation

Question 16

Neonatology
Transient tachypnoea of the newborn

Answer 16

A benign, self-limiting condition. The commonest cause of respiratory distress in newborns

Caused by delayed resorption of foetal lung fluid which impairs gas exchange

CFs: Typically presents within first 4hrs of birth with tachypnoea, nasal flaring, grunting, intercostal/subcostal recession, crackles
RFs: increased risk with c-section

CXR: Hyperinflation, perihilar interstitial oedema, fluid in fissures
Management: Supportive, O2, CPAP if required

Question 17

Biliary Atresia

Background

A rare, but serious condition affecting the newborn.

Pathology: Narrowing, or obstruction to the bile ducts prevents adequate drainage of bile from the liver into the intestine cholestatic jaundice, and progressive liver damage, cirrhosis and liver failure.
Clinical Features

Symptoms

Apparently healthy, term babies develop cholestatic jaundice with pale stools & dark urine

Most commonly manifests around the 3rd week of life (weeks 2-6)

Examination findings

Hepatosplenomegaly
Abdominal distension

Answer 17

Investigations

Cholangiogram to confirm the Dx.
Liver biopsy demonstrates bile duct proliferation and bile plugs

Management

Surgery: Kasai portoenterostomy - a segment of small intestine is attached to the liver, and enables bile drainage from the liver into the bowel.

However, if presents late, advanced liver damage and cirrhosis will inevitably have occurred and the baby therefore requires liver transplantation.

Question 18

Neonatal Jaundice
Background

Neonatal jaundice is extremely common affecting > 50% of babies

Bilirubin levels are higher in neonates because they have a high concentration of RBCs which have a shorter life span (70 days), and hepatic bilirubin metabolism is less efficient early in life.

The timing of onset of jaundice is a useful guide to the likely cause.

Answer 18

Causes of Neonatal Jaundice

Physiological jaundice

Breast milk jaundice

Pathological jaundice

Question 19

Why is Jaundice Clinically Significant?

Answer 19

Unconjugated bilirubin is able to pass through the BBB and cause bilirubin encephalopathy.

In the acute phase, this can result in:

Lethargy, poor feeding, high-pitched cry, hypertonia and opisthotonos, seizures etc.

Chronic bilirubin encephalopathy can result in complications such as:

Cerebral palsy, learning difficulties, developmental delay, deafness, seizures

Kernicterus - the yellow staining of the brain, which occurs in combination with the clinical features above

Question 20

Management of Neonatal Jaundice

In secondary care, neonates should be investigated for underlying causes of hyperbilirubinaemia, including:

Infection screen
Haemolytic screen - blood group, coomb’s test, G6PD enzyme assay
LFT

Answer 20

Management

Well neonates with physiological jaundice or breastmilk jaundice do not require treatment if bilirubin levels are below the treatment threshold

Treat underlying cause
A bilirubin treatment chart is used to guide the threshold at which to start phototherapy, or exchange transfusion, according to bilirubin levels vs gestational age.

Blue light Phototherapy (PT)
Monitor bilirubin every 4-6hrs and stop PT when BR is < Tx level
Blue-green band light converts bilirubin into water-soluble pigment excreted in urine

Exchange transfusion
If very high bilirubin, signs of bilirubin encephalopathy or poor response to phototherapy

Question 21

Pathological jaundice

Any jaundice occurring at < 24 hours, or in a neonate which is sick/not thriving must be assumed to be pathological.

Answer 21

Can be caused by a range of conditions including:
Haemolysis: Rhesus, ABO incompatibility, other cause of haemolysis (G6PD, HS)

Dehydration: Poor feeding exacerbates jaundice.

Often occurs at 2 days to 2 weeks
Infection/Sepsis (e.g. UTI)

may cause dehydration, haemolysis and transient impairment in hepatic function,
which contribute to jaundice.

Often occurs at 2 days to 2 weeks
Bruising (e.g. cephalohaematoma)

It is important to identify because the levels of unconjugated bilirubin can rise rapidly, leading to kernicterus,

and so requires treatment with phototherapy (as below).

Question 22

Breast milk jaundice

Answer 22

A prolongation of physiological jaundice, which occurs in babies which have been breastfed. The mechanism underlying breast milk jaundice is unclear.

The neonate is healthy and thriving
Timing: Starts in 1st week of life (day 2-4), peaks after 1-2 weeks, and can last up to 3 months.

Breast milk jaundice is benign and self-limiting

Question 23

Causes of Neonatal Jaundice

Physiological jaundice

Answer 23

Common, benign and not an indication of underlying disease. It occurs due to:
Inefficient hepatic bilirubin conjugation
Short life-span of foetal RBCs

Timing: After 24hrs - Starts at day 2, peaks day 3-4, and resolves within 2 weeks.

Question 24

Breast milk jaundice

Answer 24

A prolongation of physiological jaundice, which occurs in babies which have been breastfed. The mechanism underlying breast milk jaundice is unclear.
The neonate is healthy and thriving

Timing: Starts in 1st week of life (day 2-4), peaks after 1-2 weeks, and can last up to 3 months.

Breast milk jaundice is benign and self-limiting

Question 25

Neonatal Jaundice

Answer 25

Background Neonatal jaundice is extremely common affecting > 50% of babies Bilirubin levels are higher in neonates because they have a high concentration of RBCs which have a shorter life span (70 days), and hepatic bilirubin metabolism is less efficient early in life. The timing of onset of jaundice is a useful guide to the likely cause.

Question 26

Neonatal Blood Spot Test The Neonatal Blood Spot Test (heel prick test) is performed on all newborns in the UK at 5 days of age. It currently screens for:

Answer 26

Sickle Cell Disease (SCD) Cystic Fibrosis (CF) Congenital Hypothyroidism (CHT) Several Inherited Metabolic Diseases (IMDs): Phenylketonuria (PKU) Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) Maple Syrup Urine Disease (MSUD) Isovaleric Acidaemia (IVA) Glutaric Aciduria type 1 (GA1) Homocystinuria (HCU) Results are typically available within a few weeks, allowing for early intervention where necessary. Each of the above conditions has an autosomal recessive mode of inheritance, apart from congenital hypothyroidism which occurs sporadically and is usually not inherited.

Question 27

Nappy rash Pathophysiology Inflammation of the skin in the nappy area Irritant contact dermatitis The presence of urine and faecs contributes to maceration of the skin from overhydration, and increases the local pH. Friction from the nappy contributes to irritation Secondary infection can occur - candida albicans, staph aureus/streptococci

Answer 27

Clinical features Well-defined erythematous rash, oedema and dryness affecting the skin which is in contact with the nappy - buttocks, proximal thighs, suprapubic region May be papular changes present There is typically sparing of the skin folds including the inguinal creases and subgluteal creases Candida is suggested by well-defined bright red patches, the presence of papules or pustules, scale and satellite lesions

Question 28

Management of nappy rash

Answer 28

Conservative measures - high absorbency nappies, clean skin regularly & frequently change nappies Mild erythema but asymptomatic - barrier cream at each nappy change Evidence of inflammation or discomfort - topical hydrocortisone 1% OD for one week If candidal infection is suspected or confirmed on swabs - topical imidazole cream (clotrimazole, miconazole etc.) Bacterial infection - oral flucloxacillin

Question 29

Mesenteric Adenitis Key learning Common in children Due to inflammation of lymph nodes in mesentery Non-specific abdominal pain and may have palpable cervical or mesenteric lymph nodes Associated recent infection often respiratory i.e EBV Majority of cases self-resolve Pathophysiology Inflammation of the lymph nodes in the mesentery Often secondary to viral or bacterial infections or inflammatory conditions. Epidemiology Common in children and young adults

Answer 29

Causes Typically viral infections such as adenovirus or Epstein-Barr virus Rarer bacterial infections such as Yersinia enterocolitica, Salmonella or Campylobacter species History Symptoms of recent viral illness Gastrointestinal symptoms (e.g., diarrhea, vomiting) Non-specific abdominal pain Associated fever and malaise Examination Findings Abdominal tenderness, often in the right lower quadrant May have palpable lymph nodes in the mesentery or cervical chain

Question 30

Mesenteric Adenitis

Answer 30

Investigations Clinical diagnosis Must rule out other causes of abdominal pain such as appendicitis or inflammatory bowel disease Bloods Normal or raised WCC/CRP Imaging Ultrasound or CT may reveal enlarged mesenteric lymph nodes Management Most cases resolve spontaneously within a few weeks Supportive care with rest, hydration, and analgesics Antibiotics not indicated unless suspicion of bacterial causes

Question 31

Malnutrition in Children Key learning Admit if severe electrolyte derangement- monitor for re-feeding syndrome Safeguarding if concerned r.e. neglect Causes Neglect- poor dietary intake Malabsorption- Coeliac disease Anorexia nervosa Marasmus- protein-energy malnutrition- children < 70% predicted weight Kwashiorkor- protein malnutrition- causes oedema and wasting (therefore weight may not be severely reduced

Answer 31

Clinical features Low height/weight for age Examination Wrinkled appearance in axilla Wasting buttocks Investigations Low WCC Low albumin Low electrolytes Management Admit if severe electrolyte derangement- monitor for re-feeding syndrome Parent and child education to adapt diet Dietician support if high-risk- want to increase food as opposed to purely oral nutritional supplements Safeguarding if concerned r.e. neglect Treat underlying cause i.e. gluten free diet in Coeliac disease Useful links NICE Quality Standard- Nutrition: improving maternal and child nutrition

Question 32

Inherited Metabolic Disease Inherited Metabolic Diseases (IMDs) are a group of genetic disorders that affect the body's ability to properly metabolise certain substances. Several IMDs are screened for in the Newborn Blood Spot Test, which is conducted on all newborns at 5 days of age in the UK. These include:

Answer 32

Phenylketonuria (PKU) Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) Maple Syrup Urine Disease (MSUD) Isovaleric Acidaemia (IVA) Glutaric Aciduria Type 1 (GA1) Homocystinuria (HCU). Early detection is crucial, as these conditions can lead to serious complications, including developmental delays, organ damage, and metabolic crises. However, with timely diagnosis and management—often involving dietary restrictions and supplements—the prognoses are much improved.

Question 33

Phenylketonuria (PKU) Pathophysiology: Autosomal recessive defect in phenylalanine hydroxylase, leading to toxic accumulation of phenylalanine. Disrupts brain development due to high phenylalanine levels.

Answer 33

Clinical Features: Developmental delay Intellectual disability Seizures Hypopigmentation (fair skin, hair) Musty body odour Management: Lifelong low-phenylalanine diet, with regular monitoring of levels. Sapropterin (tetrahydrobiopterin) in responsive cases

Question 34

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) Pathophysiology: Autosomal recessive disorder impairing medium-chain fatty acid β-oxidation. Results in energy deficiency, especially during fasting or illness

Answer 34

. Clinical Features: Hypoglycaemia without ketones (hypoketotic hypoglycemia) Lethargy Vomiting Seizures Sudden death, especially during illness Management: Avoid fasting and maintain regular feeding High-carbohydrate intake during illness Emergency treatment of hypoglycaemia as required

Question 35

Maple Syrup Urine Disease (MSUD) Pathophysiology: Autosomal recessive defect in branched-chain ketoacid dehydrogenase complex. Leads to toxic accumulation of leucine, isoleucine, and valine.

Answer 35

Clinical Features: Poor feeding and vomiting Maple syrup odour in urine Lethargy progressing to encephalopathy Seizures Developmental delay Management: Dietary restriction of branched-chain amino acids (leucine, isoleucine, valine)

Question 36

Isovaleric Acidaemia (IVA) Pathophysiology: Autosomal recessive defect in isovaleryl-CoA dehydrogenase, leading to buildup of isovaleric acid. Interferes with the Krebs cycle and mitochondrial function.

Answer 36

Clinical Features: Vomiting Failure to thrive "Sweaty feet" odour Lethargy Seizures and coma in metabolic crises Management: Dietary restriction of leucine Glycine or carnitine supplements to aid in isovaleric acid clearance

Question 37

Glutaric Aciduria Type 1 (GA1) Pathophysiology: Autosomal recessive defect in glutaryl-CoA dehydrogenase. Accumulation of glutaric acid leads to neurotoxicity, particularly affecting basal ganglia.

Answer 37

Clinical Features: Macrocephaly in infancy Dystonia Extrapyramidal symptoms (chorea, spasticity) Acute encephalopathic crises can be triggered by intercurrent illness Management: Low-lysine diet, supplemented with riboflavin Carnitine supplementation Emergency treatment during illness - IV glucose, avoidance of fasting

Question 38

Homocystinuria (HCU) Pathophysiology: Autosomal recessive defect in cystathionine β-synthase, causing accumulation of homocysteine and methionine. Affects connective tissue, cardiovascular system, and CNS.

Answer 38

Clinical Features: Marfanoid features (tall stature, long limbs) Ectopia lentis (dislocation of the lens) Intellectual disability Thromboembolic events (deep vein thrombosis, stroke) Osteoporosis Management: Pyridoxine (vitamin B6) supplementation in responsive cases Low-methionine diet with cysteine supplementation Folic acid and betaine to reduce homocysteine levels Anticoagulation in high-risk patients for thromboembolism prevention

Question 39

Abnormal Motor Development Cerebral palsy Spinal Muscular Atrophy Duchenne Muscular Dystrophy (DMD) Becker Muscular Dystrophy (BMD)

Answer 39

Abnormal motor development may present as a delay in the acquisition of motor skills, abnormal gait, loss of motor skills etc. Early years red flags Floppy, poor head control Unable to sit unsupported by 8 months Not walking by 18 months Asymmetry of motor skills – may suggest hemiplegia Hand preference < 1 year Causes include Central motor deficit – cerebral palsy (UMN) / SMA (LMN) Myopathy – DMD Spinal cord lesions – Spinal bifida Global delay – syndromes/ other unidentified cause

Question 40

Cerebral palsy Pathology A chronic disorder of movement and/or posture that typically presents at < 2yrs. May be accompanied by disrupted development of cognition, communication etc. Cause: A static injury to the developing brain 80% antenatal – cerebrovascular haemorrhage, congenital infection 10% - hypoxic-ischaemic injury (birth asphyxiation) 10% post-natal – meningitis/ encephalitis/ head trauma. Hypoglycaemia

Answer 40

Clinical features Abnormal limb/trunk posture + tone Abnormal gait Unable to sit without support by 8 months Asymmetric hand function/preference before 12 months Feeding difficulties – due to oromotor incoordination, gagging Subtypes CP is categorised according to the clinical features. Spastic CP UMN injury results in increased tone, brisk reflexes, clasp-knife Dyskinetic CP Characterised by choreoathetosis, dystonia Ataxic

Question 42

Spinal Muscular Atrophy Pathology An autosomal recessive disorder caused by mutations in the SMN1 gene - results in degeneration of the anterior horn cells. This results in LMN disease, characterised by progressive weakness and atrophy.

Answer 42

Clinical features Fasciculation of tongue Symmetrical flaccid paralysis Hypotonia Hyporeflexia Bulbar weakness (weak cry and poor suction pooling of secretions).

Question 43

Duchenne Muscular Dystrophy (DMD) The commonest type of muscular dystrophy - 1/3000 males. Pathology X-linked recessive condition Molecular abnormality of dystrophin, which results in myofiber necrosis.

Answer 43

Clinical features Commonly presents around 4-5yrs age – waddling lordotic gait Abnormal gait - flat footed, persistent toe-walking Delayed motor milestones and speech problems Calf pseudohypertrophy – replacement of muscle fibres by fat and fibrous tissue Weakness in limb girdles (lower esp.) – Gower’s sign Uses hands and arms to ‘walk up’ their own body from a squatting position due to lack of hip and thigh muscle strength. Progressive atrophy - no longer ambulant by 10-15yrs Investigations Raised CK Genetic analysis

Question 44

Becker Muscular Dystrophy (BMD) Pathology Same allele affected as DMD, but some functional dystrophin production is maintained - as a result, patients have milder features with later onset and slower progression.

Answer 44

Clinical features Average age of diagnosis – 11 years. Symptoms are usually mild in childhood but may include: Delayed in learning to walk Non-athletic/ struggle at school with sport Experience frequent muscle cramping during exercise Later, muscle weakness progresses Difficulty running, climbing stairs, getting up from floor Then proximal UL weakness - difficulty lifting objects/lifting arms above shoulders Muscle atrophy progresses Proximal weakness Calf pseudohypertrophy Patients are typically ambulatory until late twenties, and LE until mid-old age. Complications Cardiomyopathy

Question 45

Allergic Disorders

Answer 45

Key learning Triggers: Pollen, dust mites, pet dander, foods, insect stings, and medications. Food Allergy/Intolerance in Children: IgE Mediated: Immediate allergic reactions to specific food proteins . Clinical features: Urticaria, angioedema, anaphylaxis. Diagnosis: Skin prick, RAST testing. Non-IgE Mediated: Delayed reactions, mainly gastrointestinal symptoms. Clinical features: Diarrhoea, vomiting, abdominal pain, failure to thrive. Diagnosis: Colonic biopsy for eosinophilic infiltration. Management: Allergen avoidance, patient education, pharmacotherapy (antihistamines, corticosteroids, bronchodilators).

Question 50

Allergic disorders

Answer 50

Pathophysiology Results from an exaggerated immune response to harmless substances (allergens) Leads to inflammation and tissue damage mediated by immunoglobulin E (IgE) antibodies and mast cell activation Epidemiology Common, affecting millions of individuals worldwide. Often have a genetic predisposition and can be triggered by environmental factors Triggers Numerous- including but not limited to: Pollen Dust mites Pet dander Foods Insect stings Medications

Question 51

Food allergy/intolerance in children 1) IgE mediated

Answer 51

Pathological immune response versus specific food protein Clinical features Range from urticaria to angioedema and anaphylaxis Diagnosis Skin-prick RAST testing

Question 52

2) Non-IgE mediated

Answer 52

Reaction occurs several hours after ingestion Clinical features GI symptoms- diarrhoae, vomiting, abdominal pain Long term: failure to thrive Diagnosis More difficult than IgE mediated Colonic biopsy Eosinophilic infiltration into mucosa Management of IgE and non-IgE mediated Allergen avoidance/ patient educations Pharmacotherapy (e.g., antihistamines, intranasal corticosteroids, bronchodilators), Complications Anaphylaxis Chronic rhinosinusitis

Question 53

3) Food intolerance Non-immunological hypersensitivity reaction to specific food

Answer 53

Causes Enzyme defect (lactose intolerance) Coeliac disease (gluten intolerance) Clinical features Able to tolerate certain amount of food but not if excess or over-frequent consumption- leads to reaction Management Elimination (for > 6 weeks) Reintroduction-> elimination will increase tolerance to the food Reactions delayed and symptoms can take days to appear and persist See notes on Coeliac disease for specific management

Question 54

Allergy testing

Answer 54

—Skin prick test Most common test Drops of diluted allergen placed on skin Skin pierced with needle Large number of allergens tested in one session Wheal develops if allergy after 15 minutes Uses: Food allergies and pollen —RAST (Radioallergosorbent test) Determines amount of IgE reacting with suspected or known allergens i.e. egg protein Graded results 0 (negative) to 6 (strongly positive) Uses: Food allergies, inhaled allergens (pollen), wasp/bee venom Blood tests if skin prick not suitable i.e. extensive eczema or patient on antihistamines —Skin patch testing 30-40 allergens placed on back Removed after 48hrs then results reviewed after further 48hrs Uses: Contact dermatitis

Question 55

Hip Pain in Children Common important differentials for paediatric hip pain include the following list. In an exam setting, clues to the diagnosis may include the patient's age, risk factors such as obesity/family history, and HPc (fever/viral illness).

Answer 55

Developmental dysplasia of the hip 0-3 years Clinical features: Barlow, Ortolani positive. Legg-Calve-Perthes disease 4-8 years Clinical features: pain, stiffness, reduced ROM (esp. aBduction and internal rotation) X-ray: widened joint space, flattening of the femoral head Slipped upper femoral epiphysis (SUFE) 10-15 years RFs: Overweight Transient synovitis 2-10 years HPc: recent viral illness Septic arthritis

Question 56

Developmental dysplasia of the hip Age range Newborns - 0 - 3 years

Answer 56

Examination findings Leg length discrepancy Reduced hip abduction due to contractures Barlow’s sign positive - aDduct the hip with posterior pressure on the knee - a palpable sensation of subluxation/dislocation Ortolani’s sign positive - flex the hips and knees and apply anterior pressure on the greater trochanters - a clunk is felt when the femoral head is relocated into the acetabulum Investigations Ultrasound if age < 6 months AP pelvic XR if > 6 months Management Age < 6 months - Pavlik harness Age 6-18 months - closed reduction with spica casting Age > 18 months or failed treatment - open reduction and hip reconstruction

Question 57

Legg-Calve-Perthes Disease Pathophysiology Idiopathic avascular necrosis of the femoral head Clinical features Age range: 4-8 years Several weeks of limping Hip pain (but may be painless) Progressive hip stiffness O/E: Antalgic gait, restricted ROM esp. aBduction and internal rotation

Answer 57

Investigations AP pelvic x-ray - initially widened joint space, then flattening of the femoral head

Question 58

Transient Synovitis Pathophysiology Inflammation of the hip joint synovium, typically triggered by recent viral infection (commonly URTI) Clinical Features Age range: 2-10 years Acute hip pain Antalgic gait Reduced ROM, especially abduction

Answer 58

Investigations Septic arthritis must be ruled out - US can be useful Bloods - elevated inflammatory markers - WCC/CRP Management Conservative - self-limiting disorder - Simple analgesia and rest

Question 59

Slipped Upper Femoral Epiphysis (SUFE) Pathophysiology Postero-inferior displacement of the femoral head epiphysis. 1/5 are bilateral. Clinica features Age range: 10-15 years RFs: Overweight, male Pain in the hip or knee O/E: Restricted ROM with loss of internal rotation and flexion

Answer 59

Investigations AP pelvic x-rays Management Surgical

Question 60

Growth & Development Failure to Thrive Background The term failure to thrive (FTT, also referred to as faltering growth) is used to describe a baby/child whose weight/rate of weight gain is less than it should be for their age/sex. A child's growth is monitored and documented on their growth chart, from which the child can be compared to the expected weight/height. It is common - estimated 5% of children seen in primary care

Answer 60

Causes of FTT Important causes to consider include Inadequate nutrition - feeding difficulties, eating disorders, child neglect Malabsorption - coeliac disease, IBD, vomiting Underlying chronic disease causing excess energy loss (CHD, CF, DM, malignancy etc.

Question 62

Identifying faltering growth NICE defines faltering growth as any of the following:

Answer 62

During the first few days of life.. Weight loss > 10% of BW - or weight does not return to BW by 3 weeks of age After the first few days of life.. If the child's weight falls.. Across 1 centile if birth weight (BW) was < 9th centile Across 2 centiles if BW was between the 9th-91st centile Across 3 centiles if BW was > 91st centile Current weight < 2nd centile (regardless of BW) BMI (in children > 2 yrs) BMI < 2nd centile Length or height > 2 centiles below the mid-parental height centile

Question 63

Management of FTT Early life

Answer 63

Weight loss < 10% of BW in early days of life with a normal assessment Reassurance - weight loss usually stops after 3-4 days of life and should return to BW by 3 weeks Weight loss > 10% of BW in early days of life / infant does not return to BW by 3 weeks of age Refer to/discuss with paediatrics

Question 64

Faltering growth after the first few days of life..

Answer 64

Discuss with / refer to paediatrics if suspected: Safeguarding concerns Rapid, unexplained loss of weight Unexplained short stature or slow linear growth Or symptoms of signs of underlying acute/chronic illness which may be causing FTT If no need for paediatrics involvement trial conservative measures such as: Eating together as a family Allowing children to feed themselves Advising re. nutritional , healthy meals Consider referral to paediatric dietitian and other members of MDT if appropriate (psychologist, SLT) and ensure regular follow up monitor growth If primary care measures fail, discuss with paeds

Question 65

Short Stature
 Constitutional delay in Growth and Puberty Growth Hormone Deficiency

Question 66

Constitutional delay in Growth and Puberty Pathology Delay in the onset of puberty, with resultant relative short stature Clinical Features Short stature, often identified in adolescence Family history often in one of parents Delay in bone age (BA) maturation Normal investigations Management

Answer 66

Management Most patients can be managed conservatively. There will be spontaneous onset of puberty and growth with appropriate final height. Pharmacological: Sex steroids can be used to induce pubertal changes and accelerate growth rate if patients are struggling to cope with feature (e.g. Boys – IM testosterone 50-100mg every 4wks)

Question 67

Growth Hormone Deficiency Clinical features Infancy – hypoglycaemia, growth may be normal in 1st yr (not GH dependent) Childhood Slow growth rate Short stature Increased subcutaneous fat, truncal obesity Low muscle mass

Answer 67

Investigations Baseline/random serum IGF-1 and IGFBP-3 GH provocation tests Insulin Tolerance Test – GOLD standard Management of GH deficiency Recombinant HGH – OD SC injection (0.7-1.0mg/m2/ day).

Question 68

Assessment NICE recommends the autism research centre AQ-10 test to help in the identification of autisim. 10-question screening tool that can be done within a 10-minute consultation and can indicate the need for further assessment. A score of 6+ is suggestive of possible autism. Management Applied behavioural analysis A behaviour modification approach which helps to reduce ritualistic behaviour, develop language, social skills and play.

Answer 68

Autism Spectrum Disorders Clinical Features More common in boys Often presents around 2-4yrs (but commonly later in life), when language and social skills should be rapidly developing Triad of difficulties Impaired social interaction Prefers own company, lack of friends, avoids eye contact Speech and language disorder Over-literal interpretation, delayed development Imposition of routines with ritualistic and repetitive behaviour

Question 69

Rett Syndrome A rare genetic disorder (1/10,000 girls) caused by a mutation in the MECP2 gene (involved in brain development) on the X chromosome.

Answer 69

Clinical features Normal growth and development for first 6 months - then development ‘stagnates’, and symptoms develop including: Hypotonia, difficulty feeding, delayed speech and motor (difficult sitting/crawling/walking) Repetitive, purposeless hand movements - tapping, rubbing, wringing Then patients enter the ‘regression stage’ Loss of abilities - develops severe problems with mobility and coordination, speech and language and other brain functions. Features of autism, social withdrawal

Question 70

ADHD Diagnostic criteria Symptoms must be present before 7 yrs age, for at least 6 months, and result in impairment in 2 or more settings (e.g. home and school). Inattention - Poor organisation, lacks concentration Hyperactivity - Fidgets, runs and climbs excessively Impulsivity - Interrupts, blurts out answers

Answer 70

Management Pre-school children with ADHD (2-5 years) 1st line - ADHD-focussed group parent-training program Drug treatment is usually NOT recommended School-age children (usually older than 6 yrs) Group-based support and education for parents and patients Individual parent-training programmes should be offered if difficulties in attending group sessions Medication may be offered if significant symptoms despite environmental modifications 1st line - Methylphenidate CBT can be offered if ongoing significant impairment from symptoms despite medication

Question 71

Adults with ADHD

Answer 71

If symptoms are significant offer medication 1st line - methylphenidate or lisdexamfetamine Offer CBT/psychological intervention alongside medication if ongoing symptoms

Question 72

Groin Swellings Important differentials for groin and scrotal swellings in children include inguinal hernias and cryptorchidism in boys. Inguinal Hernias Background Almost always indirect inguinal hernias Most common in boys on the right side (15% bilateral) Clinical features Typically asymptomatic Examination findings: Soft, reducible swelling in the groin Can’t get above it May have bowel sounds, cough impulse

Answer 72

Management Surgical herniotomy - hernias in infants are at high risk of incarceration, so must be surgically managed within weeks. Incarcerated hernia Examination: Irreducible, painful hernia, absent bowel sounds Incarceration results in intestinal obstruction Can cause testicular infarction due to compression of gonadal vessels Management: Taxis (gentle, sustained pressure), if fails, surgical exploration.

Question 73

Cryptorchidism Background The testes descend through the inguinal canals into the scrotum during the 1st trimester. Cryptorchidism is the failure of testicular descent Common - affects 3% full-term boys (even more common in pre-terms) Management

Answer 73

Spontaneous descent occurs in the majority of cases during the first 3-6 months. If this does not occur, surgical management is required, and is usually performed in the first year of life. Undescended testes are subdivided into: Palpable undescended testes (80%) Usually found at the external inguinal ring Treatment – orchidopexy (moves undescended testis into the scrotum) Impalpable testes (20%) The testicle is intra-abdominal, inside the inguinal canal, or absent. Risk – malignant degeneration in intra-abdominal testes Investigation – Laparoscopy (gold standard) Orchidopexy can be performed if viable. However, in some cases torsion and resorption may have occurred.

Question 74

Glycogen Storage Diseases The Glycogen Storage Diseases are a group of inherited genetic disorders which result in abnormal storage of the type/amount of glycogen in various tissues around the body. One commonly tested example includes McArdle disease (suspect if the question describes exercise intolerance with muscle cramps). Generic treatment measures for GSDs include the following: Nasogastric Infusion of Glucose in children under 2 years to prevent hypoglycaemia. Dietary Management: Frequent Small Carbohydrate Feedings: In children over 2, regular small meals with carbohydrates are provided throughout the day to prevent fasting hypoglycemia. Uncooked Cornstarch is often included as a slow-release glucose source for maintaining steady blood sugar levels. Allopurinol: Used to reduce uric acid levels in GSD I to prevent complications like gout and kidney stones.

Question 75

Glycogen Storage Disease Type I (GSD I - Von Gierke Disease) Pathophysiology

Answer 75

Pathophysiology: Deficiency in glucose-6-phosphatase (Type Ia) or glucose-6-phosphate translocase (Type Ib), results in impaired glycogen breakdown and gluconeogenesis. Clinical Features: Severe fasting hypoglycemia Hepatomegaly Lactic acidosis Hyperuricemia and hyperlipidemia Management: Frequent meals, with slow-release glucose (e.g. cornstarch) Avoid fasting Allopurinol for hyperuricemia, lipid-lowering agents for hyperlipidemia

Question 76

Glycogen Storage Disease Type II (GSD II - Pompe Disease) Pathophysiology: Deficiency in acid alpha-glucosidase (GAA), leading to lysosomal glycogen accumulation

Answer 76

. Clinical Features: Muscle weakness (proximal, including respiratory muscles) Cardiomegaly and heart failure Progressive motor delay Management: Enzyme replacement therapy (ERT) with alglucosidase alfa Supportive care for cardiac and respiratory complications

Question 77

Glycogen Storage Disease Type III (GSD III - Cori/Forbes Disease) Pathophysiology: Deficiency in glycogen debranching enzyme (amylo-1,6-glucosidase). Accumulation of abnormal glycogen.

Answer 77

Clinical Features: Hepatomegaly Hypoglycemia (milder than GSD I) Muscle weakness (later onset) Management: High-protein diet to support gluconeogenesis Frequent small meals with cornstarch Avoid fasting

Question 78

Glycogen Storage Disease Type IV (GSD IV - Andersen Disease) Pathophysiology: Deficiency in branching enzyme, resulting in abnormal glycogen structure (amylopectin-like). Clinical Features:

Answer 78

Hepatomegaly and cirrhosis Failure to thrive Progressive liver disease, leading to liver failure Management: Liver transplantation is often required Supportive care for liver failure and other complications

Question 79

Glycogen Storage Disease Type V (GSD V - McArdle Disease) Pathophysiology: Deficiency in muscle glycogen phosphorylase, leading to impaired glycogen breakdown in muscles.

Answer 79

Clinical Features: Exercise intolerance with muscle cramps "Second wind" phenomenon (improved exercise tolerance after rest) Myoglobinuria (muscle breakdown after exertion) Management: Avoid intense exercise High-protein diet and aerobic training Carbohydrate supplementation before exercise

Question 80

Glycogen Storage Disease Type VI (GSD VI - Hers Disease) Pathophysiology: Deficiency in liver glycogen phosphorylase, causing impaired glycogen breakdown

Answer 80

Clinical Features: Mild fasting hypoglycemia Hepatomegaly Growth retardation Management: Frequent meals with slow-release carbohydrates Generally milder disease; supportive management

Question 81

Glycogen Storage Disease Type VII (GSD VII - Tarui Disease) Pathophysiology: Deficiency in phosphofructokinase (PFK) in muscles, impairing glycolysis

Answer 81

. Clinical Features: Exercise intolerance with muscle cramps Myoglobinuria Hemolysis in some patients Management: Avoid high-intensity exercise High-protein diet Symptomatic care for myoglobinuria and hemolysis

Question 82

Glycogen Storage Disease Type IX (GSD IX) Pathophysiology: Deficiency in phosphorylase kinase, mainly affecting liver glycogen metabolism.

Answer 82

Clinical Features: Hepatomegaly Mild fasting hypoglycemia Growth delay Management: High-carbohydrate diet with frequent meals Generally mild, supportive management

Question 83

Childhood Tumours There are a multitude of childhood malignancies. Important examples include: Nephroblastomas Neuroblastomas Retinoblastomas

Answer 83

Wilms Tumour (Nephroblastoma) The commonest renal tumour of childhood (5% of all childhood malignancies). Clinical features

Question 84

Wilms Tumour (Nephroblastoma) The commonest renal tumour of childhood (5% of all childhood malignancies). Clinical features

Answer 84

75% < 4yrs A rapidly growing, painless abdominal mass – visible or palpable Flank pain Haematuria Hypertension Fever Red flags/referrals Palpable abdominal mass or enlarged organ - very urgent referral (48hr specialist review) Unexplained, visible haematuria - very urgent referral (48 hr specialist review) Diagnosis Abdominal US followed by CT/MRI Management Surgical excision required with neoadjuvant chemotherapy

Question 85

Neuroblastoma Pathophysiology A malignant tumour of the sympathetic nervous system, derived from neural crest cells. NB is the most common extracranial tumour in childhood - 7% childhood malignancies Sites: adrenal medulla, sympathetic ganglia (abdomen, thorax, pelvis, neck)

Answer 85

Clinical Features Typical age of presentation – 2yrs Presentation can be non-specific and dependent on the primary site/presence of metastases Abdominal tumour: Abdominal pain, palpable mass Thoracic tumours: Respiratory distress, dysphagia Cervical ganglia: Horner’s syndrome Metastatic disease to bone marrow: anaemia, thrombocytopenia Release of catecholamines by the neuroblastoma causes symptoms such as: Sweating, flushing Tachycardia, hypertension Specific diagnostic tests Elevated urine catecholamine metabolites (VMA or HVA) helps confirm diagnosis Imaging (CT/MRI) and biopsy to confirm diagnosis Red flags/referrals Palpable abdominal mass or enlarged organ - very urgent referral (48 hr specialist review)

Question 86

Retinoblastoma The most common primary intraocular malignancy (accounting for 3% of all childhood malignancies) Aetiology Cause: Mutations in the RB1 TSG (chromosome 13) Tumour formation occurs when both alleles of the TSG are mutated

Answer 86

Mutation can be: Germline: The mutation is inherited, and all cells of the body are affected As a result, only the second allele requires mutation before malignant transformation of cells occurs Eye tumours frequently bilateral retinoblastoma, High risk of non-ocular cancers (e.g. osteosarcoma, melanoma) Sporadic 90% of cases Eye tumour is normally unilateral Risk of other cancers is essentially the same as the population Clinical features 90% cases present at < 3 yrs of age (typically 0-12 months if bilateral) Symptoms: LEUKOCORIA (white pupillary reflex) Strabismus/squint Deterioration in visual acuity Red flags/referrals Absent red reflex in children - Consider urgent referral (2WW specialist review)

Question 87

Childhood Urinary Tract Infection Background Aetiology: 90% caused by E. Coli Terminology: The following terminology is important, as it dictates the necessity of further investigations (US/DMSA) according to NICE guidance: A UTI is considered recurrent if: 3 or more LUTI 2 or more UTI (at least one of which was UUTI) A UTI is considered atypical if: Serious illness / sepsis/ AKI Poor urine flow, abdominal/bladder mass Failure to respond to appropriate ABx Non-E. Coli organism (e.g. proteus, staphylococcus, pseudomonas)

Answer 87

Clinical Features In young children (age < 3 months), symptoms are often non-specific and include: Pyrexia in the absence of other source Vomiting and poor feeding Behavioural changes - irritability, crying, lethargy Failure to thrive In children > 3 months, symptoms include: Pyrexia Dysuria, urinary frequency, abdominal pain Vomiting and poor feeding Changes in continence - for example, more frequent bedwetting Urinary changes - malodorous, cloudy or dark, macroscopic haematuria Suspect pyelonephritis in children with either: Unexplained high fever (>38 degrees) OR Loin/flank pain

Question 88

Investigation and Management First, use the NICE traffic light system to establish the risk of serious/life-threatening infection.

Answer 88

—-Children < 3 months with suspected UTI Refer urgently to paediatrics for management with parenteral ABx, and send urine MCS —-Children > 3 months with suspected UTI Perform urine dipstick analysis Treat for UTI if positive for both leukocytes and nitrites, OR if just nitrites positive (but leukocytes negative) - start ABx, and send urine MCS If just leukocytes positive (negative nitrites), send urine MCS (start ABx if < 3 years OR clinically probable UTI) ——Pyelonephritis in children > 3 months Suspect pyelonephritis if unexplained fever > 38 OR loin pain consistent with pyelonephritis Send urine MCS Consider referral to paediatrics Diagnose pyelonephritis/UUTI if: Fever > 38 + Bacteriuria Fever + loin pain + bacteriuria Antibiotics as below - PO cefalexin

Question 89

Antibiotics

Answer 89

🎉Pyelonephritis in child > 3 months - PO cefalexin (or co-amoxiclav if sensitivity confirmed on MCS - as there is high E.Coli resistance to augmentin) 🎉LUTI in child > 3 months 1st line - PO trimethoprim or nitrofurantoin 🎉2nd line - nitrofurantoin if not used 1st, or amoxicillin (if sensitive on MCS), cefalexin Suspected UTI < 3 months - admit for parenteral ABx

Question 90

Ultrasound in uti

Answer 90

Arrange US during the acute infection, if there is evidence of an atypical infection or failure to respond to treatment Arrange US within 6 weeks for Children > 6 months with recurrent UTI Children < 6 months with first time UTI

Question 91

Dimercaptosuccinic acid scintigraphy (DMSA) scan

Answer 91

Imaging to identify renal parenchymal scarring/defects Ensure DMSA scan is performed within 4-6 months in: Children < 3 years with atypical UTI Any child with recurrent UTI

Question 92

Recurrent UTI Prophylactic antibiotics

Answer 92

: Consider daily ABx prophylaxis in any child > 3 months with recurrent UTI 1st line: trimethoprim, nitrofurantoin Imaging Arrange ultrasound and DMSA scan as above

Question 93

Vesicoureteral reflux The retrograde flow of urine from the bladder into the upper urinary tract.

Answer 93

Aetiology Primary VUR - abnormal development and resultant malfunction of vesicoureteric junction (VUJ) The most common cause - 1-3% of population affected Acquired – e.g. post-surgery Complications VUR combined with UTI can lead to progressive renal scarring (reflux nephropathy) which can result in progressive renal failure.

Question 94

Investigations Micturating cystourethrogram (MCUG) Management Prophylactic ABx Surgical management - including STING procedure/open surgery

Answer 94

Radiocontrast is administered into the bladder via a urinary catheter Reflux is identified on imaging, during voiding dynamic scan whi urinary catheterisation and administration of radiocontrast medium into bladder. Reflux is detected on voiding. NICE suggest performing a MCUG for Babies < 6 months following atypical UTI or in recurrent UTI Consider if: Dilatation on US Poor urine flow Non-E.coli infection FHx of VUR

Question 95

Constipation in children

Answer 95

Constipation in Children Constipation in children is incredibly common with an estimated prevalence of 10-20% in the UK. Assessment Symptoms suggestive of childhood constipation include —-< 3 stools per week Hard, large stool Rabbit droppings stools Overflow soiling Pain/bleeding or straining on passing stools Poor appetite —Symptoms suggestive of faecal impaction include A history of severe constipation Overflow soiling The presence of a faecal mass on palpation of the abdomen

Question 96

Red flags Suggest a serious underlying cause of constipation - refer urgently to paediatrics if any of:

Answer 96

Possible Hirschprung’s disease Symptoms of constipation appearing within the first weeks of life Delay in meconium passage (may also suggest cystic fibrosis) FHx of Hirschprung’s Ribbon stool pattern (esp. in children < 1) - may suggest anal stenosis Motor delay/signs - ?neurological cause Abnormal appearance of the anus, lumbosacral or gluteal regions

Question 97

Amber flags Refer to paediatrics, and commence treatment in primary care

Answer 97

Failure to thrive or delayed development Suspected maltreatment Constipation triggered by cow’s milk introduction Assess for perianal streptococcal infection, which can be associated with constipation in some children. Features: Bright red perianal erythema and oedema

Question 98

Management Faecal impaction If faecal impaction is present, treat with a disimpaction regimen, such as:

Answer 98

1st line: Macrogol (e.g. movicol) with an escalating dose regimen E.g. A 1-5 year old should have 2 sachets on day one, 4 sachets on day two, 6 on day three, then 8 sachets every day until impaction resolves. 2nd line: If after 2 weeks, disimpaction has not occurred with a macrogol, add a stimulant laxative (e.g. senna) If macrogol is not tolerated, use senna instead, either on its own, or with a softener such as lactulose.

Question 99

Maintenance regimen 1st line: Macrogol (e.g. movicol) - use an escalating dose regimen until regular, soft stools achieved

Answer 99

2nd line: If constipation persists - add a stimulant laxative (e.g. senna) If macrogol is not tolerated, use senna instead, either on its own, or with a softener such as lactulose. Continue laxatives for at least a few weeks after regular, healthy bowel movements are established. Diet & Lifestyle advice Scheduled toileting and reward systems may help Ensure a balanced diet with adequate fibre intake, and sufficient fluid intake

Question 100

Cow's Milk Protein allergy Pathophysiology An immune mediated allergic response to one or more of the proteins found within cow’s milk. The immune mechanism can be:

Answer 100

IgE mediated Follows exposure, and then sensitisation to specific allergens After sensitisation, reproducible symptoms (which can affect multiple body systems) occur approximately 20 minutes after ingestion of cow’s milk. Non-IgE mediated T cell-mediated reaction which manifests from 2 hours to 3 days post ingestion

Question 101

Cow milk protein allergy cf

Answer 101

Clinical features Symptoms usually: Develop within 1 week of the introduction of cow's milk to the diet. Infants may also react to cow’s milk proteins which are found in maternal breast milk (if mum has been consuming cow’s milk). Most children present by 6 months. Symptoms can be wide ranging and affect multiple symptoms, including: Dermatological Pruritus Rash - Skin erythema, local or generalised urticaria or angioedema (often facial/lips) Acute flare of eczema Perioral rash Gastrointestinal Vomiting Diarrhoea Colicky abdominal pain GORD Respiratory LRT - Cough, wheeze, SOB URT - Sneezing, runny nose As above, symptoms of IgE mediated CMPA occur within minutes of ingestion whereas symptoms of non-IgE CMPA are delayed, and occur 2-72 hrs post ingestion.

Question 103

Cow milk protein allergy investigation

Answer 103

Investigations Consider referral to allergy clinic for allergy testing (skin prick or measuring serum-specific IgE vs cow’s milk) if IgE-mediated CMPA is suspected Allergy testing is not always necessary - clinical assessment can be performed and involves: 1. Strict elimination of cow’s milk from infants diet (or mum’s diet if breastfeeding) 2. If symptoms improve, then reintroduce cow’s milk 3. If symptoms get worse - CMPA confirmed clinically.

Question 104

Mng of cow milk protein allergy

Answer 104

Management Breastfeeding mothers (exclusive or mixed-feeding) Strict exclusion of all cow’s milk from maternal diet Formula fed or mixed feeding (breast + formula) Encourage and support return to exclusively breastfeeding If formula feed is still required (due to difficulties BF or mother’s preference) - an extensively hydrolysed formula is recommended

Question 105

Reintroduction & The Milk Ladder A cow’s milk free diet is recommended until 9-12 months of age, and for at least 6 months. Most children will outgrow CMPA by the age of 3 (most earlier than this) Therefore, planned reintroduction of CMP can be performed at intervals to determine whether tolerance to cow’s milk protein has been acquired. The milk ladder should be used:

Answer 105

Step 1: Malted milk biscuit Step 2: Meal containing milk/ cheese - pizza/lasagne/cheese omelette Step 3: Hard cheese or milk pudding Step 4: Yoghurt or ice cream Step 5: Fresh milk that has been boiled for 2 minutes Step 6: Fresh milk - 50ml, gradually increasing over a week to 200ml

Question 106

Cow’s milk intolerance

Answer 106

A differential diagnosis vs CMPA. Intolerance presents with GI features (vomiting, diarrhoea, flatus) but NOT allergic features (angio-oedema, dermatitis, wheeze, rhinorrhoea etc). Children generally grow out of this by 2-3 years, and can be fed instead with breast milk, or hydrolysed formulas. At 1 year old, they can commence milk ladder.

Question 107

Cystic fibrosis

Answer 107

Cystic Fibrosis Pathophysiology The most common inherited disease in caucasian populations – 1/2500 (1/25 carriers). Inheritance: autosomal recessive Aetiology: Mutation in the gene encoding the CFTR protein, most common mutation is Delta-F508 (deletion of phenylalanine at residue 508), on chromosome 7. CFTR protein: The CFTR protein is an ATP-responsive chloride channel which plays an important role in ion transport in exocrine glands (especially Cl- and Na+) Disrupted ion transportation results in abnormally thick secretions which cause a myriad of complications, including gland obstruction (e.g. pancreas, intestinal, intrahepatic)

Question 108

Clinical Manifestations & Complications Cystic fibrosis

Answer 108

Pancreatic insufficiency – thick pancreatic secretions stagnate in the pancreatic ducts Steatorrhoea & malabsorption Diabetes – due to autodigestion of pancreas Biliary disease – bile becomes concentrated, causing plugging and local damage – chronic liver disease Gastrointestinal disease – Changes in fluid movement intraluminal water deficiency - chronic constipation Respiratory disease – inadequate mucociliary clearance results in bacterial colonisation, and inflammatory lung damage – bronchiectasis, chronic suppurative lung disease GUT – male infertility, female subfertility and increased ectopics

Question 109

Clinical features cystic fibrosis

Answer 109

Clinical Features Identified during screening via blood spot analysis Neonates - meconium ileus (thick, sticky meconium, which can cause bowel obstruction) Do not pass meconium, vomiting, abdominal distension Infancy and childhood: Failure to thrive, poor growth Respiratory symptoms Recurrent chest infections Chronic cough, with thick sputum GI Steatorrhoea - loose, greasy stools which float due to fat malabsorption Chronic constipation, abdominal pain, bloating Adulthood: Infertility; Symptoms of DM

Question 110

Examination findings Clubbing Nasal polyps FEV1 – Obstructive airway disease (bronchiectasis) Fine high-pitched crackles which do not clear after coughing Wheeze Investigations Infant screening - blood spot immunoreactive trypsin test Sweat test - the gold standard diagnostic test Pilocarpine injection + electrical stimulation to small area of skin - encourages sweating - [chloride] are measured Chloride > 60 mmol/L - CF is probable Chloride 30-59 mmol/L - CF is possible - requires further testing (e.g. genetics) Alternatively - Gene testing can be used for confirmation

Answer 110

Management The management of CF requires an MDT approach. Important aspects include: High calorie diet Exercise program Pulmonary management Airway clearance techniques Mucoactive agents 1st Line - rhDNase (dornase alfa) - an enzyme which breaks down DNA strands in airway secretions, reducing the viscosity of sputum/secretions, easing expectoration Prophylactic antibiotics vs staphylococcus aureus chest infections Offer PO flucloxacillin until age of 3, and consider continuing until age of 6 Immunomodulatory agents - offer long-term, low dose azithromycin to patients with deteriorating lung function tests/recurrent chest infections (consider steroids if AZ ineffective) Bronchodilators (SABA) GI management Creon (pancreatic exocrine insufficiency) - to treat malabsorption Ursodeoxycholic acid should be prescribed in liver disease/abnormal LFTs

Question 111

Dehydration in Children

Answer 111

Key learning Clinical Features: Tachypnoea, tachycardia, reduced responsiveness, insensible losses (vomiting, diarrhoea, fever). Examination: Sunken eyes/fontanelle, reduced skin turgor, dry mucous membranes. Severe cases: pale/mottled skin, cold peripheries Management: A to E assessment Capillary blood glucose check. Depending on severity - oral rehydration solution (ORS), IV fluids Maintenance fluids according to Holliday-Segar Formula If signs of dehydration, give replacement fluids in addition to maintenance Resuscitation - 0.9% sodium chloride at 10 mL/kg over <10 minutes

Question 112

Dehydration History in infants Parents will report drinking less than normal Quantify with bottles used or time spent breastfeeding compared to usual < 60% of normal is marker for dehydration < 2 wet nappies in 24hrs or no urine output in 12 hours Clinical features Tachypnoea, tachycardia Hypotension is a late sign Reduced responsiveness, lethargy May be associated insensible losses- vomiting, diarrhoae, fever Examination findings: Sunken eyes/fontanelle Reduced skin turgor Dry mucous membranes Severe: Pale/mottled skin, cool peripheries, prolonged cap refill, hypotension

Answer 112

Management A to E assessment Check capillary blood glucose If early stages - Oral rehydration solution (ORS) can be utilised to improve gastrointestinal fluid uptake. If not able to tolerate orally, or insufficient signs of dehydration - IV fluids

Question 113

Intravenous Fluids Routine Maintenance Fluids Routine maintenance fluid therapy is necessary when oral intake is insufficient to maintain hydration, such as when a child is nil by mouth or vomiting and unable to tolerate orally.

Answer 113

Fluid Choice: Children (>28 days): Isotonic crystalloids with 5% glucose (e.g., 0.9% sodium chloride + 5% glucose). Neonates (<28 days): 10% dextrose +/- additives, adjusted based on clinical condition. Calculation (Holliday-Segar Formula): First 10 kg: 100 ml/kg/day Next 10 kg (11-20 kg): 50 ml/kg/day For weight over 20 kg: 20 ml/kg/day Body Weight (kg) Fluid Requirement (ml/kg/24hr) First 10kg 100 Second 10kg 50 Subsequent kg 20

Question 114

Replacement Fluids (Dehydration) Replacement fluids address fluid deficits due to conditions like prolonged poor oral intake, vomiting, or diarrhea, especially when oral rehydration is impractical. Fluid Choice: Isotonic crystalloid with added glucose (e.g., 0.9% sodium chloride + 5% glucose), with potassium added for ongoing losses.

Answer 114

Calculation: Fluid deficit (mL) = % dehydration x weight (kg) x 10 5% dehydration: Child shows signs of dehydration without red flags. 10% dehydration: Presence of red flags or shock. Total Fluid Requirement: Total fluid (mL) = Maintenance fluids + Fluid deficit

Question 115

Resuscitation Fluids For children in shock, immediate fluid resuscitation with glucose-free balanced crystalloids (e.g., Hartmann’s solution) is required.

Answer 115

Standard Bolus: 0.9% sodium chloride at 10 mL/kg over <10 minutes, IV or IO. Reassessment: After each bolus, assess the child's status (heart rate, capillary refill, etc.). If shock persists, seek senior advice and consider further intervention, including inotropes. Post-Resuscitation Care Once shock is managed, calculate 24-hour fluid requirements without subtracting resuscitation fluids. Assume 10% dehydration for shocked children to guide replacement therapy.

Question 116

Difficulty Breastfeeding Mastitis

Answer 116

Engorgement Blocked milk ducts Galactocele

Question 117

Galactocele A galactocoele is a benign, milk-filled cyst that occurs in lactating women. It presents as a smooth, breast swelling. On palpation, a milky nipple discharge occurs.

Answer 117

Clinical Features Insidious, progressive, painless breast lump O/E: Breast mass, mobile, painless, palpation may trigger a milk discharge from the nipple RFs: Difficulty breast feeding/formula feed - increase risk due to incomplete milk evacuation from ducts

Question 118

Blocked milk ducts Clinical features Present with a localised breast lump which is painful to touch

Answer 118

Lump is often pea-sized or larger Pain might subside after expression of milk/feeding Milk bleb/blister on nipple - a small white spot (1mm in diameter)

Question 119

Engorgement Clinical features Breast pain which starts in the days following birth, and is usually bilateral Pain is typically worse before a feed

Answer 119

As above, symptoms are usually bilateral - the entire breast becomes swollen. May appear shiny due to the swelling, can become erythematous, and can leak. Due to the fullness of the breast, the infant may struggle to attach, and the milk flow can be impaired.

Question 120

Mastitis Clinical features Mastitis often presents with a localised, “wedge-shaped” swelling, which is firm and tender to palpation, in one breast

Answer 120

The overlying skin is warm and erythematous. And symptoms of infection - fever, systemic upset A breast abscess is suggested by the presence of a fluctuant, tender breast lump

Question 121

Enuresis Background Nocturnal enuresis is defined as bedwetting during sleep in children > 5 years of age, (in the absence of an organic cause), occurring 2+ times/week. It is common!- Affects 5-10% of children at 7 years of age

Answer 121

Classification Primary - if child has never previously achieved sustained night time continence Thought to occur due to sleep arousal difficulties, polyuria, overactive bladder Secondary - bedwetting in a child who was previously dry at night for > 6 months Often has an underlying cause - examples include diabetes, UTI, constipation or psychological problems With or without daytime symptoms (urgency, frequency, daytime wetting etc)

Question 123

Management Age < 5 years, Primary bedwetting without daytime symptoms

Answer 123

Reassurance - should resolve without treatment due to increased awareness of bladder filling and increased bladder capacity with age. Advice on diet/fluid intake, toileting patterns Positive reward systems may help

Question 124

Primary bedwetting with daytime symptoms Refer to enuresis clinic/paediatrics for further investigations/assessment Secondary bedwetting Assess for underlying cause including - constipation, diabetes, UTI If no cause identified - refer to paediatrics/enuresis clinic

Answer 124

Primary bedwetting with daytime symptoms Refer to enuresis clinic/paediatrics for further investigations/assessment Secondary bedwetting Assess for underlying cause including - constipation, diabetes, UTI If no cause identified - refer to paediatrics/enuresis clinic

Question 125

Age > 5 years, Primary bedwetting without daytime symptoms

Answer 125

As above, give advice on fluid intake, toileting and reward systems Offer treatment to children whose symptoms do not improve despite this advice. Short term control (e.g. if child is going on a sleepover or trip)- Desmopressin - mimicks ADH, increasing water reabsorption in the renal collecting duct. Long term control 1st line: Enuresis alarm Also use a positive reward system in conjunction 2nd line: Desmopressin - consider if alarm is inappropriate/refused Parents must be advised to fluid restrict from one hour before until eight hours after taking desmopressin, to reduce the risk of hypervolaemia and hyponatraemia. If treatment failure with 2 courses of alarm/desmopressin, refer to enuresis clinic/paediatrics Investigate for underlying cause May initiate treatment with TCAs (imipramine) or antimuscarinics (oxybutynin)

Question 126

Hirschsprung’s Disease Pathophysiology Occurs in 1/5000 live births Failure of parasympathetic ganglion cells to migrate into the hindgut, results in the absence of co-ordinated bowel peristalsis. This results in functional intestinal obstruction at the transition zone between normal bowel and distal aganglionic bowel. 80% - transition zone is in rectum or sigmoid (short segment disease)

Answer 126

Clinical features Presents within first few days of life with low intestinal obstruction causing: Failure to pass meconium within 48 hours Subsequent passage of meconium plug followed by sparse bowel movements Bilious vomiting Examination: Abdominal distension, narrow anus/rectum, empty of stool Can present in childhood with: Chronic constipation which often started in the first few weeks of life Constipation which does not respond well to laxatives (e.g. movicol/senna) Abdominal pain and distension Faltering growth /failure to thrive Diagnosis AXR – distal intestinal obstruction Rectal biopsy – no ganglion cells in the submucosa Management Surgical - removal of aganglionic section of bowel.

Question 127

Toddler’s Diarrhoea - Chronic non-specific diarrhoea Clinical features A non-specific, chronic diarrhoea which most commonly affects children between 6 months and 5 years of age. Children present with: Colicky abdominal pain Increased flatus Abdominal distension Loose/poorly formed stools with recognisable undigested food (e.g. ‘peas and carrot stools’) The child is otherwise well, with normal growth and development. Examination and investigations are all normal.

Answer 127

Management Reassurance Dietary advice – increase fat intake, normalise fibre intake, reduce milk & sugary drinks Loperamide may be necessary occasionally.

Question 128

Duodenal atresia One of the most common causes of congenital intestinal obstruction (1/5000 births) Clinical Features Vomiting within the first 24-48 hours of neonatal life, often begins following first oral feed Usually bilious, as atresia is typically distal to the ampulla of vater

Answer 128

Investigations AXR shows double bubble sign (gas in stomach and proximal duodenum) Management Surgical – duodenoduodenostomy

Question 129

Intussusception The most common cause of intestinal obstruction in children. Pathology The small bowel telescopes (the proximal part of bowel slides into the distal part by invagination). This results in small bowel obstruction. Perforation and peritonitis can occur if the bowel becomes gangrenous. Causes: The majority of cases of intussusception occur in association with viral gastroenteritis/URTI. Other: CF, Meckel diverticulum, Peutz-Jeghers - these patients usually present older, with a more insidious history

Answer 129

Clinical features Occurs primarily in infants and toddlers (peak incidence 3-18 months) Classically, there is a history of a preceding viral URTI or gastroenteritis Symptoms: Symptoms are episodic (in time with peristaltic waves) - each lasting 2-3 minutes Episodes of severe, colicky abdominal pain – often manifests in toddlers as inconsolable crying, drawing legs up May settle/sleep between episodes PR bleeding - classically described as “redcurrant jelly stool” If intestinal obstruction occurs.. Bilious Vomiting Absolute constipation Abdominal distension Examination findings: A sausage-shaped abdominal mass may be felt on palpation in the RUQ Patient may be pale, shocked and pertionitic

Question 130

Investigations Ultrasound - round mass within the abdomen with target sign (bowel-in-bowel appearance in transverse plane) A good initial screening tool, with a very low false-negative rate. If evidence of intussusception - need contrast enema for diagnosis/management Fluoroscopy - contrast enema - “coiled-spring” appearance The gold standard for diagnosis, and used therapeutically

Answer 130

Management 1st Line: Therapeutic enema - air/water/contrast pumped into the colon, in an attempt to reduce the invagination, and restore the bowel to its normal position Surgery: If reduction by enema fails, reduction by laparoscopy or laparotomy is required

Question 131

Infantile Hypertrophic Pyloric Stenosis Pathophysiology Hypertrophy of the circular muscle results in enlargement of the pylorus Management Ramstedt’s pyloromyotomy – splitting thickened pyloric muscle to allow food passage

Answer 131

Clinical Features Age: 3-8 weeks Symptoms: Vomiting – large volume, projectile vomiting which occurs within minutes of feeding. Constipation – common due to reduced fluid intake Failure to thrive Examination findings: Examine after feeding Visible waves of gastric peristalsis across upper abdomen Palpable pyloric tumour just about umbilicus - described as a large ‘olive' Investigations Diagnostic: US abdomen - visualise thickened pylorus Biochemistry: Hypochloric, hypokalaemic, metabolic alkalosis due to vomiting of HCl

Question 132

GI Disorders in Children

Answer 132

Toddler’s Diarrhoea - Chronic non-specific diarrhoea Hirschsprung’s Disease Duodenal atresia Intussusception Infantile Hypertrophic Pyloric Stenosis

Question 133

Genetic Disorders

Answer 133

Down’s Syndrome Turner’s Syndrome William’s Syndrome Patau Syndrome Edward’s Syndrome Prader-Willi Syndrome Klinefelter Syndrome Marfans Syndrome Noonan syndrome DiGeorge Syndrome Phenylketonuria Neurofibromatosis Tuberous Sclerosis Complex

Question 134

Down’s Syndrome

Answer 134

Prevalence: 1/650 lives births Genetics: Trisomy 21 (nondisjunction during maternal oogenesis) – 95% Clinical features: Presents at birth with generalised hypotonia and head lag Facial features – Low-set ears; up-slanting eyes; Brushfield’s spots (white spots in iris) ; prominent epicanthic folds; flat facial profile; protruding tongue Short neck and brachycephaly (flat occiput) Single palmar crease Wide sandal gap between first and second toes Short stature Learning difficulty Complications: Congenital heart disease (50%)- AVSD most common, TOF, VSD GIT – duodenal atresia Early onset alzheimer’s disease

Question 135

Turner’s Syndrome Prevalence: 1/2500 Genetics: 45 X,O

Answer 135

Clinical features: Consider in females with short stature – growth rate falters after 3-5yrs (skeletal dysplasia) Broad neck; cubitus valgus Widely-spaced hypoplastic nipples; ‘shield-chest’ Low posterior hairline Neonatal – puffy hands and feet Complications: Coarctation of aorta, VSD Horseshoe kidney Hypoplastic ‘streak’ ovaries – primary amenorrhoea and infertility Diagnosis: Karyotyping

Question 136

William’s Syndrome Cause: Microdeletion on chromosome 7, encompasses genes affecting elastin

Answer 136

Clinical features: ‘Elvin facial appearance’ – periorbital fullness, full cheeks, anteverted nares, wide mouth with full lips, widely spaced teeth – Learning disability Behavioural features – over-friendliness, poor attention, anxiety 15% of infants have hypercalcaemia Complications: CVD - Supraclavicular aortic stenosis Diagnosis: Chromosomal microarray or FISH study to confirm Chr7q11 microdeletion

Question 137

Patau Syndrome Prevalence: 1/4000 Genetics: Trisomy 13 (75% non-disjunction during maternal oogenesis)

Answer 137

Diagnosis: Suspicions arise following antenatal US scan – multiple congenital anomalies Diagnosis confirmed by karyotyping Clinical features: SGA Polydactyly Microcephaly & holoprosencephaly with resultant abnormal facial development, including: Cleft lip and palate Microphthalmia - narrow, small, poorly developed eyes Renal – fused kidneys Profound learning difficulty Prognosis: very poor - only 40% live > 1 week, only 1/10 live > 5 yrs

Question 138

Edward’s Syndrome Prevalence: 1/6000 Genetics: Trisomy 18 (Non-disjunction) - (Edward’s - Eighteen)

Answer 138

Clinical features: Affects F > M Small for gestational age, small head (OFC < 3rd percentile) Overlapping hands/overriding fingers Rocker-bottom feet (like the rocker of rocking-chair) - prominent calcaneus, convex/rounded bottom of foot Prognosis – very poor, median LE is approx. 4 days,

Question 139

Prader-Willi Syndrome Prevalence: 1/10,000 Genetics: Deletion on Chromosome 15

Answer 139

Clinical features: Babies are floppy, difficulty feeding, FTT Rapid weight gain b/w 1yr – 6yrs Older children Short stature with truncal obesity Mild learning difficulties Insatiable appetite, food-foraging Behavioural problems

Question 140

Klinefelter Syndrome Prevalence: 1/500 boys Genetics: 47,XXY (nondisjunction) Clinical features:

Answer 140

Boys enter puberty normally However, by mid-puberty: Testis begin to involute - small testes, infertile (azoospermia) Develop hypERgonadotrophic hypogonadism with decreased testosterone production, and marked increase in FSH (in an attempt to stimulate testosterone prod.) Tall Reduced muscle mass Gynaecomastia Mild learning disability Diagnosis: Karyotyping

Question 141

Marfans Syndrome Prevalence: 1/5000 Genetics: Autosomal dominant mutation of the FBN1 gene on chromosome 15q

Answer 141

Clinical features: Tall, slim body build with long limbs/armspan Pectus excavatum/carinatum Scoliosis Arachnodactylyl - long, slender, curved fingers and toes Wrist and thumb sign positive Distal phalanges of thumb and fifth finger overlap when the wrist is grasped by the opposite hand When clenching fist, long thumb protrudes, entire distal phalanx is visible Joint laxity High-arched narrow palate Cardiac complications: Mitral valve prolapse - mid-systolic click Dilatation of the aortic root may occur - Risk of ascending aortic aneurysm and aortic dissection Treatment with ACEi/ARB and echocardiographic monitoring

Question 142

Noonan syndrome Prevalence: 1/2500 births Genetics: Autosomal dominant 50% - caused by mutation in PTPN11 gene – chromosome 12q

Answer 142

Clinical features: Males and females affected Short stature Ocular hypertelorism, ptosis Webbed neck Chest malformation - Pectus carinatum superiorly, Pectus excavatum inferiorly Undescended tests Developmental delay – mild Cardiovascular defects: Pulmonary stenosis

Question 143

DiGeorge Syndrome Prevalence: 1/4000 Genetics: Microdeletion on 22q11 syndrome (85% de novo mutation)

Answer 143

Clinical features: Subtle dysmorphism – wide and prominent nasal bridge, down-slanting eyes, small mouth Short stature Parathyroid aplasia/ hypoplasia hypocalcaemia Thymus aplasia T-cell deficiency – recurrent infections Hypernasal speech, cleft palate Learning difficulties – speech and language delay especially Cardiac defects: interrupted aortic arch, TOF

Question 144

Phenylketonuria Genetics Autosomal recessive, mutation of phenylalanine hydroxylase (PAH) gene (Chr1) Pathophysiology An inborn error of metabolism, caused by absent or reduced activity of phenylalanine hydroxylase, which results in reduced metabolism of the amino acid phenylalanine (PA) Consequently, there is accumulation of dietary phenylalanine to toxic levels Excess phenylalanine levels saturate transporter proteins, decreasing the availability of other large amino acids in the brain, which are required for synthesis of proteins and neurotransmitters. This leads to gradual mental impairment

Answer 144

Clinical features Infants with PKU are normal at birth (due to mothers ability to breakdown PA) Heel prick test usually performed at 2-7 days will identify PKU (elevated PA) If unidentified, and untreated, children will go on to develop symptoms including: Learning disability Hypopigmentation - Excessively fair hair and skin Seizures Musty urine and skin Atopic dermatitis Management Phenylalanine restricted diet Supplemented with tyrosine (as can be derived from hydroxylation of PA)

Question 145

Neurofibromatosis Neurofibromatosis (NF) is a condition characterised by multiple benign tumours of the peripheral nerve sheath. There are two distinct forms of NF. Genetics: Autosomal dominant

Question 146

NF1

Answer 146

Genetics: Mutation of NF1 gene on chromosome 17 Symptoms and signs are often present at birth or shortly after, and almost all cases are diagnosed by 10 years of age Diagnosis requires 2 of the following features: >6 café au lait spots Axillary freckling 1 neurofibroma 1 lisch nodule in iris Optic glioma Skeletal dysplasia Affected 1st degree relative

Question 147

NF2 Genetics: Mutation of NF2 gene on chromosome 22 Symptoms and signs develop later in life than NF1, with most individuals being diagnosed between 16-30 yrs.

Answer 147

Diagnosis: 1 major OR 2 minor criteria: Major Unilateral vestibular schwannoma and first degree relative with NF2 Bilateral V S Minor Meningioma Schwannoma Ependymoma Glioma Cataract

Question 148

Tuberous Sclerosis Complex A multisystem autosomal dominant genetic disorder which affects the brain, eyes, kidney, heart, lungs and skin. Aetiology Mutations in TSC1 and TSC2 genes (2/3rds de novo, 1/3rd inherited) which encode proteins hamartin and tuberin respectively. Mutations result in the formation of benign hamartomas

Answer 148

Clinical features Features reflect the site of the hamartomas, which may occur in the…. Skin: Facial angiofibroma - reddish lumps, often in a butterfly distribution Ash leaf spots - patches of hypopigmentation Shagreen patch - thickened patch of skin usually found on the neck or lower back Ungual fibromas Brain: Cortical tubers, giant cell astrocytomas, subependymal nodules - lead to headaches, developmental delay and learning disability and seizures Neuropsychiatric: Autism, ADHD, anxiety/depression Kidneys: Renal angiomyolipomas (AML) - cause haematuria, can present with AML haemorrhage (flank pain, haematuria, h/d unstable). Heart: Cardiac rhabdomyomas - asymptomatic, but may cause arrhythmias later in life Eyes: Retinal phakomas (astrocytic hamartoma) - grey/white lesions at the back of globe on fundoscopy, which can become calcified

Question 149

Feverish Children Fever (T > 38) in children is most commonly secondary to underlying infection, alongside rarer causes such as malignancy or Kawasaki’s (fever > 5 days). It is extremely common, affecting approx. 30% of children per year. Assessment NICE guidelines utilise a traffic light system to identify the risk of serious underlying illness in febrile children, and guide management. Assessment includes the examination of general appearance, observations (T, HR, RR), peripheral perfusion (CRT) and fluid status. BP must be checked if there are abnormalities in the HR or CRT.

Answer 149

The Traffic Light System Note: A child is classified as amber or red if they have a single applicable feature. Mnemonic: CockROACH (Circulation, Respiratory, Other, Activity, Colour, Hydration)

Question 150

Feverish children

Answer 150

Management Red features present Indicate a serious/life-threatening febrile illness Arrange emergency ambulance transfer to ED Amber features present (no red) Suspected UTI in any infant < 3 months (and no other focus) - arrange immediate referral to paediatrics (for urine mcs and appropriate ABx). Consider hospital admission if: Repeated attendance by parent/carer due to concerns No clear cause of fever If the child is well enough to be managed at, home safety net with verbal/written information, follow-up review or arrange direct access for child if further assessment becomes necessary. Green features only Usually indicates that the child is well enough to be managed at home

Question 151

Management at home

Answer 151

Management at home Investigate for the cause if required, including a urine dip/mcs if unexplained fever Antipyretics - Monotherapy with paracetamol/ibuprofen Do NOT use both drugs simultaneously. Switch to other if first is ineffective. If monotherapy ineffective, can ALTERNATE between PCM/ibuprofen Ensure adequate hydration - Oral rehydration therapy is effective if required (e.g. dioralyte)

Question 152

Febrile Convulsion Key learning Seizure accompanied by fever (> 38) with no evidence of CNS infection Children 6 months to 5 years Clinical diagnosis Majority self-resolve and are seen by healthcare practitioner post-seizure Pathophysiology Age-dependent response of brain triggered by genetic predisposition and fevers and its causes Epidemiology 3% prevalence Increases if family history- a third of children have family history of seizures

Answer 152

Causes Viral infection: HHV-6 (causes roseola infantum- sixth disease) Influenza, RSV, adenovirus, enterovirus, rhinovirus Any other illness causing fevers can cause febrile seizures (including respiratory, abdominal, urinary and ear infections) Clinical Features High fever (usually > 39) Usually seizure within first day of illness

Question 153

Febrile convulsion clinical features

Answer 153

Simple (70%) Isolated, generalised tonic-clonic last < 15 minutes Brief post-ictal period with complete recovery within one hour Do not recur within 24 hours or within same illness Complex (25%) One of more of: Focal features (movement limited to one limb or side of body) Duration > 15 minutes Do not fully recover within one hour (prolonged drowsiness or transient hemiparesis (Todd’s palsy) Recur within 24 hours or within same febrile illness Febrile status epilepticus (5%) Prolonged seizure (definition varies either more than 5 or 30 minutes) Investigations Check blood glucose to ensure not Hypoglycaemia Investigate source of infection (urine dipstick, culture as per suspected source)

Question 155

Febrile convulsion mng

Answer 155

Management Most are seen once seizure has self-resolved Immediate hospital assessment for all children with first presentation of febrile seizure If > 5 minutes duration: Rescue medication- buccal midazolam or rectal diazepam Specialist paediatric / intensive care management if persists beyond this Following seizure/discharge: Ensure complete all childhood immunisations Do not routinely prescribe prophylactic antibiotics or antiepileptic drugs Complications 1 in 3 will have another febrile seizure but rare beyond age 6