3a (3) Flashcards by Ellen Collingwood

Name 4 causes of unconjugated|hyperbilirubinaemia in prolonged neonatal jaundice

Breast milk jaundice, infection,|haemolytic anaemia, hypothyroidism,|high GI obstruction, Crigler-Najjar|syndrome

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Name 4 causes of conjugated|hyperbilirubinaemia (>20micromol/L) in|prolonged neonatal jaundice

Bile duct obstruction (biliary atresia,|choledochal cyst), neonatal hepatitis|syndrome (congenital infection, inborn|errors of metabolism, CF,|galactosaemia)

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What are the 2 most common cancers in children?

Leukaemias (80% ALL), brain tumours

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Name 4 short term side effects of chemo

BM suppression, immunosuppression, N+V, anorexia, alopecia

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What is the peak age range for presentation of ALL?

2-5y

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Name 5 signs/symptoms of ALL

Malaise, anorexia, pallor, lethargy, infection, bruising, petechiae, bone pain, hepatosplenomegaly, lymphadenopathy

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Name 4 types of primary brain tumour that occur in children

Astrocytoma (40%), medulloblastoma|(20%), Ependymoma (8%), Brainstem|glioma (6%), craniopharyngioma (4%)

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How might neuroblastoma present in children?

Pallor, WL, abdo mass, hepatomegaly, bone pain, limp

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What is the most common soft tissue sarcoma in children?

Rhabdomyosarcoma

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On which chromosome is the retinoblastoma susceptibility gene located?

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What is the most common presentation of retinoblastoma?

White pupillary reflex replaces the normal red one|Squint

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What are the clinical manifestations of sickle cell disease?

Anaemia, infection, painful crises, acute|anaemia, priapism, splenomegaly

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How could you prevent a sickle cell crisis?

Immunizations|Prophylactic penicillin|Oral folic acid

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How would you treat an acute crisis?

Oral or IV analgesia, hydration, treat infection with ABx, O2 if sats low

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What is the commonest cause of thrombocytopenia in children? What age and how does it present?

Immune thrombocytopenia|2-10y|Usually 1-2w after a viral infection; short history of petechiae, purpura and/or superficial bruising

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What are the clinical features of ADHD?

Cannot sustain attention, excessively active, socially disinhibited, easily|distracted and impulsive, may be poor at relationships, prone to temper tantrums, poor school performance

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What pharmacological agents might be used to improve symptoms in children with ADHD where behavioural interventions have failed?

Methylphenidate or dexamphetamine

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Typical distribution of eczema in an infant and older child

Infant = face and trunk|Child = flexor and friction surfaces

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Give 3 causes of congenital hypothyroidism

Maldescent of thyroid and athyrosis|Dyshormogenesis|Iodine deficiency

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Give 5 clinical features of congenital hypothyroidism

Failure to thrive, feeding problems,|prolonged jaundice, constipation, pale/ cold/mottled/dry skin, coarse facies,|large tongue, hoarse cry, goitre, delayed|development

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What syndromes increase the risk of autoimmune thyroiditis?

Down and Turner

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What are the features of “growing pains”?

3-12 years, symmetrical in lower limbs|and not limited to joints, never present when waking, no limitations to physical activities, physical examination normal

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What is Osgood-Schlatter disease?

Osteochondritis of the patellar tendon insertion at the knee|Usually presents as knee pain after exercise and sometimes swelling over tibial tuberosity

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How might transient synovitis present?

2-12y, often following a viral infection|Sudden onset pain in hip or limp|No pain at rest, decreased ROM|Afebrile or mild fever, doesn’t appear ill

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What is Perthes disease?

Avascular necrosis of the capital femoral epiphysis of the femoral head due to interruption of the blood supply, followed by revascularisation and reossification|over 18-36 months.

How does Perthes present? Rx?

Insidiously, with limp or hip and knee pain (usually 5-10y)|Bed rest and traction if identified early

How is SUFE treated?

Surgically - pin fixation

Give 4 features of septic arthritis

<2y, acute onset, non-weight bearing, moderate/high fever, ill child, hip held flexed, increased WCC and ESR, fluid in joint on USS, normal/widened joint space on XR

How would you treat septic arthritis?

Initially IV ABx|Washing the joint or surgical drainage may be required

How is JIA defined?

Persistent joint swelling (>6 weeks|duration) presenting before 16 years in the absence of infection or any other defined cause

Give 3 complications of JIA

Chronic anterior uvetis|Flexion contractures of the joints|Growth failure|Constitutional problems|Osteoporosis

Give 4 extra-articular features of JIA

Acute illness, malaise, high daily fever, salmon-pink macular rash, lymphadenopathy, hepatosplenomegaly

What are the treatment strategies for JIA?

NSAIDs, joint injections, MTX, systemic corticosteroids, immunotherapies

Give 3 causes of non-epileptic seizures

Febrile seizures|Metabolic (hypoglycaemia, hypocalcaemia, hypo/hypernatraemia)|Head trauma|Meningitis/encephalitis|Poisons/toxins

Give 3 causes of "funny turns"

What is a febrile seizure?

A seizure accompanied by a fever in the absence of intracranial infection due to bacterial meningitis or viral encephalitis

What would you inform parents about the risk of developing epilepsy in a child with febrile seizures?

Simple febrile seizures = similar chance as normal children (1-2%)|Complex = increased risk (4-12%)

Describe the difference between breath-holding episodes and reflex anoxic seizures

Breath-holding: toddler, precipitated by emotion holds breath, goes blue then limp. Rapid recovery |Reflex anoxic seizures: toddler, precipitated by|pain, stops breathing and goes pale, brief seizure sometimes with rapid recovery

What are the 3 central movement control centres?

Motor cortex|Basal ganglia|Cerebellum

What is Gower's sign?

Needing to turn prone to rise to a|standing from a supine position (sign of proximal muscle weakness)|Normal until 3y

What investigations would you perform in a suspected myopathy?

Serum creatinine phosphokinase|Muscle biopsy|DNA testing|USS and MRI muscles

What investigations would you perform in a suspected neuropathy?

Nerve conduction studies|DNA testing|Nerve biopsy|EMG

Give 2 disorders of the anterior horn cell and general features of this type of neuromuscular disorder

Spinal muscular atrophy|Poliomyelitis

What are the clinical features of DMD?

Waddling gait and/or language delay|Run slowly|Problems walking staits|Gowers sign|Pseudohypertrophy of the calves

When does the neural tube close?

During the first 28d following conception

Name 3 types of neural tube defects

Anencephaly, encephalocele, spina bifida occulta, meningocele

What skin signs may be present overlying spina bifida occulta?

Tuft of hair, lipoma, birth mark, small dermal sinus

What are the cutaneous features of tuberous sclerosis?

Depigmented "ash leaf" patches which fluoresce under UV|Shagreen patches (roughened patches of skin, usually over lumbar spine)

What are the neurological features of tuberous sclerosis?

Intellectual impairment, seizures, developmental delay, infantile spasms

How would you diagnose NF1?

2+ from: ≥6 café-au-lait spots (>5mm in size before puberty, >15mm after), >1|neurofibroma, axillary freckles, optic glioma, one Lisch nodule, bony lesions|from sphenoid dysplasia, a 1st degree relative with NF1

What is the cutaneous feature of Sturge-Weber syndrome?

Haemangiomatous facial lesion in the distribution of trigeminal nerve

Sudden onset severe abdo pain in a 59 y/o woman with slightly elevated WCC. Cause?

Twisted ovarian cysts

A 25 year old woman with amenorrhoea of seven weeks, admitted because of dehydration and a large amount of ketones in the urine because of intractable nausea and vomiting. Cause?

Pregnancy

A 44 year old woman who presented with severe menorrhagia and mild|dysmenorrhoea. Clinical examination showed a firm mass arising from the|pelvis, up to the level of the umbilicus. Cause?

Fibroid

An 18 year old girl has recently lost her job as a waitress because of clumsy|behaviour in dropping several plates. She has now lost the use of both of her|arms and requests help from others in looking after her.

Dissociative disorder

An 18 year old man is admitted to the psychiatric ward during the night. He is agitated and restless, having been like this for several days. He finally sleeps but continues to perspire heavily and soon wakes in a more restless state.

Hyperthyroidism

A previously fit and well 21 year old woman presents to her GP with a nine|month history of amenorrhoea and galactorrhoea. On examination she has|expressible galactorrhoea. Her -HCG is negative. Subsequent CT head|scan shows a 0.6 cm mass in the left side of her pituitary gland. 9 am cortisol 545 nmol/l (NR: 200-700), prolactin 2713 mU/l (NR: <400 mU/l).

Prolactinoma

A 27 year old woman presents to her GP with obesity, hirsutism and|secondary amenorrhoea. She has a raised serum LH and testosterone, and|low SHBG. Her serum prolactin is 645 mU/l (Ref rang < 400 mU/l).

PCOS

A 38 year old woman presents to her GP three months after the complicated delivery of her last baby. She suffered a large postpartum haemorrhage requiring operative intervention and a 6 unit blood transfusion. She had been unable to breastfeed and has subsequently not had a period. She suffers from lassitude, is lethargic and extremely 'washed out'.

Panhypopituitarism

Six weeks after breast enhancement surgery, a 25 year old woman complains|of a painful lump in her right breast. Fine-needle aspiration cytology reveals|numerous inflammatory cells, including macrophages with foamy cytoplasm, and occasional giant cells.

Fat necrosis

A 45 year old woman who had an invasive lobular carcinoma removed from|her right breast two years ago. She now presents with a diffuse thickening in|the upper outer quadrant of her left breast.

Invasive lobular carcinoma

A 50 year old woman with a two month history of bloody discharge from her|left nipple. On examination a small mass is palpable and an aspirate from this|shows benign epithelial cells.

Duct papilloma

A loud, ejection systolic murmur is best heard at the apex, radiating into the|right chest in a 6 week old, otherwise well, infant.

VSD

A loud, systolic murmur is heard over the upper right sternal border of a teenage boy with learning difficulties and delayed puberty. It radiates|posteriorly and is easily heard between the shoulder blades. The second heart sound is obscured.

Pulmonary stenosis

An infant born prematurely remains on a ventilator at age 6 weeks with a|fluctuating oxygen requirement. The heart rate is rapid (180/min, NR 120-160) and a quiet systolic murmur can be heard over the upper left chest and|between the shoulder blades. The peripheral pulses are easily felt.

PDA

A newborn infant passes a small amount of black, ribbon like-stool, and then|nothing for 48 hours. A gastrograftin enema shows a microcolon.

A three day old, breast-fed infant is admitted very jaundiced with a serum|bilirubin of 400 μmol/l and sleepy.

Dehydration

A baby with Down's syndrome and weight loss.

Duodenal atresia

A child has abdominal pain and rectal bleeding.

Meckel's diverticulum

A neonate with apparently normal craniofacial features chokes, splutters and goes blue during feeding.

Tracheo-oesophageal fistula

A 7 year old girl returning from a summer holiday at a camp site in Spain|reports a worsening cough, sore throat, a temperature of 37.8, conjunctivitis and abdominal pains. A throat swab reveals an organism that grows on cultivation with a human cell line.

Adenovirus

An anxious mother brings her 6 year old son to her GP. The child is sneezing, has a tickly cough and running nose, which has continued for the past 48hrs. On examination, the chest is clear and the temperature normal and there are no enlarged lymph glands.

Rhinovirus

A two week old infant presents with respiratory distress. His mother has|vesicular lesions over her face and trunk.

VZV

A 7 year old boy with clubbing, who squats to relieve periods of cyanosis.

Tetraology of Fallot

Name one bio, one psycho, one social risk factor for anxiety disorder

FH|Childhood abuse, separation anxiety, high expectations placed upon|Acute stress e.g. financial worry

What types of acute episodes characterise a panic disorder and name four symptoms a patient might experience during one of these

What is the diagnostic criteria for panic disorder?

ICD10 - >3 episodes within a 3 week period

Give 3 measurements taken as part of the combined test for Down's syndrome

Nuchal translucency|PAPP-A|B-HCG|Mother's age|Mother's weight

What is the risk of miscarriage with amniocentesis?

0.5-0.1%

Left to right shunt

ASD|VSD|PDA

Right to left shunt

ToF, TGA

Common mixing (blue and breathless)

AVSD|Complex congenital heart disease

Outflow obstruction in well child

AS|PS|CoA

Outflow obstruction in sick infant

CoA|Interruption of aortic arch|Hypoplastic L heart syndrome

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3a (3) Flashcards

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