PAEDIATRICS Flashcards
what are the clinical features of hypogammaglobulinaemia?
- recurrent infections
- infections with S.pneumoniae and haemophilia
- failure to thrive
- diarrhoea
- pallor
- lymphadenopathy and hepatosplenomegaly
how is hypogammaglubulinaemia diagnosed?
-reduced or absent serum IgG, IgM or IgA
how is hypogammaglobulinaemia managed?
- Offer early antibiotic treatment in infections
- Give IVIG in all primary immunodeficiency syndromes except IgA deficiency
- Offer TNF inhibitors for granulomatous diseases in patients with CVID
- Live vaccines are contraindicated
- Offer bone marrow transplant for Severe Combined Immunodeficiency
what are the clinical features of Gaucher’s disease?
- hepatosplenomegaly
- corneal clouding
- neurodevelopmental delay
- cataract
- failure to thrive
- eye movement disorder
- joint contracture
- depression
what are the clinical features of MPS?
- hepatosplenomegaly
- corneal clouding
- large head circumference
- neurodevelopmental delay
- cataract
- hearing impairment
- joint contracture
- spinal gibbus
- hydrocephalus
what are the clinical features of Fabry’s disease?
- skin rash and cutaneous lesions
- corneal clouding
- hearing impairment
- cataract
what are the clinical features of Pompe’s disease?
- hepatosplenomegaly
- fatigue
- cataract
- failure to thrive
- joint contracture
- depression
what are the clinical features of Tay-Sachs disease?
- depression
- failure to thrive
- dementia
- ataxia
- optic atrophy/retinitis pigments
- hyperacusis
- macular cherry red spot
what are the clinical features of Niemann-Pick disease?
- hepatosplenomegaly
- neurodevelopmental delay
- eye movement disorder
- dementia
- ataxia
what are the clinical features of GH deficiency?
- Short stature
- Poor growth velocity
- Short for target height
- Absent pubertal growth spurt
- Delayed puberty
- Mid-facial hypoplasia
- Delayed dentition
- Frontal bossing
how is GH deficiency diagnoseD?
- Wrist xray: delayed bone age
- Low IGF1 and IGFBP3
how is GH deficiency managed?
-somatotropin
what are the clinical features of biliary atresia?
- Neonatal jaundice with pale stools, persisting beyond 14 days of life
- Dark urine
- Bruising
how is biliary atresia diagnosed?
- raised serum bilirubin
- high GGT
- Hepatobiliary scintigraphy: no tracer excretion into bowel within 24 hours
how is biliary atresia managed?
- Offer hepatoportoenterostomy before 45 to 60 days of life
- Give ursodeoxycholic acid to facilitate bile flow
- If hepatoportoenterostomy is unsuccessful, offer liver transplant
what are the clinical features of a haemangioma?
- Pink, red or blue lesion
- Rapid growth
- Variable compressibility
- Flat or nodular character
- Islands of normal skin
- Ulceration and bleeding
- Warmth
how is a haemangioma managed?
- Offer propranolol for infantile haemangiomas
- Offer surgical excision
- If there is ulceration, offer barrier protection and topical antibiotics such as metronidazole
what are the clinical features of congenital torticollis?
- Head tilt
- Head rotated with decreased active rotation to affected side
- Decreased head righting to contralateral side
- Sternocleidomastoid mass
- Ipsilateral shoulder elevation
what are the risk factors for congenital torticollis?
- Plagiocephaly
- Complicated birth
- Non-varied supine sleep and resting position
- Decreased prone awake time
how is congenital torticollis managed?
- For children under 5 months, offer massage and myofascial release physiotherapy
- Offer cranial moulding orthosis for children with plagiocephaly
- Offer BOTOX injection into the sternocleidomastoid or upper trapezius
- As a last resort, offer sternocleidomastoid muscle release surgery
what are the risk factors for faecal incontinence in children?
- Chronic constipation
- Male sex
- Diet lacking in fibre
- Inadequate fluid intake
- Delayed or inadequate toilet training
- Anorectal malformations
- Hirschsprung’s disease
- Spinal abnormalities
what are the clinical features of DiGeorge’s syndrome?
- Cyanosis, signs of heart failure and a heart murmur associated with tetralogy of fallot, truncus arteriosus, interrupted aortic arch and VSD
- Bulbous nose tip and prominent ears
- Cleft lip and palate
- Growth failure
- Feeding difficulty
- Speech delay
- Non-verbal learning disorder
- Frequent infection
- Schizophrenia
- Seizures
- Hypoparathyroidism
- CHARGE syndrome: coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth, genital or urinary abnormalities and ear abnormalities and deafness
what are the clinical features of Dubin-Johnson Syndrome?
- Intermittent jaundice
- Lack of pruritus
- Triggered by intercurrent illness, infection, stress, pregnancy or medication including oral contraceptives
what is seen on investigation in suspected Dubin-Johnson syndrome?
- elevated bilirubin, with more than half conjugated
- all other bloods normal
- Liver biopsy: coarsely granulated pigment in the hepatocyte lysosomes with normal liver histology
how is Dubin-Johnson syndrome managed?
-no treatment needed
what are the risk factors for SIDS?
- Side, prone or inclined position at last sleep
- Bed-sharing/co-sleeping
- Soft sleeping surface
- Maternal smoking
- Increasing number of smokers in house
- Smoking in the same room as the child
- Non-use of dummy
- Premature birth
what are the clinical features of cryptorchidism?
- Malpositioned or absent testis
- Palpable cryptorchid testis
- Non-palpable testis
- Testicular asymmetry
- Scrotal hypoplasia or asymmetry
- Retractile testis
- Ascending cryptorchidism
- Hypospadias
- Micropenis
how is cryptorchidism diagnosed?
- Perform USS: Testis can be identified within the inguinal canal or as it emerges into the superficial inguinal pouch
- Perform MRI: testis identifiable along normal path of descent
- Perform hormonal evaluation with hCG stimulation test: no increased in testosterone after hCG, in conjunction with elevated basal rates of LH and FSH signifies that the testes are absent
- Measure Mullerian inhibiting substance, inhibin B and FSH: anorchia if MIS and inhibin B undetectable with raised FSH
when should bilateral undescended testes detected at birth be referred?
-within 24 hours
when should bilateral undescended testes detected at 6-8 weeks be referred?
-urgently to be seen within 2 weeks
how should a suspected unilateral undescended testis be managed according to time of detection?
- At birth — re-examine the infant at 6–8 weeks of age. If both testes are normally descended, no further action is required.
- At 6–8 weeks of age — re-examine the infant at 4–5 months of age.
- At 4–5 months (corrected for gestational age), if the testis remains undescended, arrange referral to paediatric surgery or urology to be seen by 6 months of age.
define enuresis
-normal micturition that occurs at an inappropriate or socially unacceptable time or place.
what are the clinical features of enuresis?
- Increased fluid intake at night
- Urinary frequency
- Constipation
- Caffeine
- Urinary urgency
- Abnormal voiding habits
how is enuresis managed?
- appropriate fluid intake and voiding
- reward chart
- enuresis alarm
- desmopressin
- anticholinergic with desmopressin
- imipramine
what are the clinical features of glycogen storage disorders?
- Frequent feeding
- Hepatomegaly
- Distended abdomen
- Hypernoea
- Failure to thrive
- Lethargy
- Hypotonia
- Bleeding tendency
what is seen on blood tests in glycogen storage disorders?
- glucose: low
- bicarbonate: raised
- lactic acid: raised
- uric acid: raised
- triglycerides: raised
- LFTs: raised AST and ALT
how are glycogen storage disorders managed?
- Orally administered uncooked cornstarch is the mainstay of therapy from early childhood and through adulthood.
- Treat hypoglycaemia as indicated
- Give a xanthine oxidase inhibitor such as allopurinol for hyperuricaemia
- Give fenofibrate for hyperlipidaemia
- Liver transplant may be required for hepatic dysfunction
what are the clinical features of meconium aspiration?
- Tachypnoea
- Cyanosis
- Chest wall asymmetry with decreased air entry
- Barrel shaped chest
- Grunting
- Chest retractions
- Tachycardia
- Hypotension
- Crackles
- Meconium stained liquor
what are the risk factors for developing meconium aspiration?
- Gestational age >42 weeks
- Foetal distress
- Oligohydramnios
- Thick meconium
- Apgar score <7
- Chorioamnionitis
- Caesarean delivery
what is seen on chest x-ray in meconium aspiration?
- irregular pattern
- patchy infiltrations
- atelectasis
- hyperexpanded lung fields
- consolidation
- may show pleural effusion, pneumothorax, or pneumomediastinum
- cardiomegaly may be seen
what are the clinical features of infant colic?
- Generally well and thriving
- Normal urine
- Absence of vomiting
- Absence of diarrhoea
- Normal temperature
what are the clinical features of kwashiorkor?
- Low weight for height
- Low height for age
- Low mid upper arm circumference
- Bilateral pitting oedema
- Hair discolouration
- Dermatosis/ulceration
how is kwashiorkor managed?
- Offer community based therapy with ready to use therapeutic food if the child can eat 30g of RUTF in 15 minutes or less
- If the child cannot eat 30g RUTF in less than 15 mins, inpatient care with regular milk based liquid food is required
- Manage electrolyte imbalances as indicated
- Treat dermatosis with potassium permanganate wash and topical zinc oxide
what are the clinical features of lead toxicity?
- Cognitive impairment
- Behavioural changes
- Headaches
- Clumsiness and agitation
- Loss of appetite
- Constipation
- Somnolence
- Cerebellar signs
- Seizures
- Coma
- Colicky abdominal pain
how is lead poisoning diagnosed?
- Measure whole blood lead level: blood lead >0.4micromoles/L in children or >1.2micromoles/L in adults
- Perform FBC: microcytic, hypochromic anaemia
how is lead poisoning managed?
- Separate from source of exposure
- Offer chelation therapy with DMSA (Dimercaptosuccinic acid, succimer), sodium calcium edetate or d-penicillamine
what are the clinical features of Lesch-Nyhan Disease?
- Orange sand crystals in nappy
- Kidney stones
- Pyramidal signs
- Spasticity and hyper-reflexia
- Testicular atrophy
- Males
- Developmental delay
- Involuntary movements
- Generalised hypotonia
- Self injurious behaviour
- Cognitive disturbances
- Growth retardation
- Action dystonia
- Gout
how is Lesch-Nyhan diagnosed?
- Measure hypoxanthine-guanine phosphoribosyltransferase gene analysis: mutation in the coding region of the HPRT gene
- Measure HPRT enzyme activity: reduced
what are the clinical features of Trisomy 18, Edwards syndrome?
- low birthweight
- prominent occiput
- small mouth and chin
- short sternum
- flexed overlapping fingers
- rocker bottom feet
- cardiac and renal malformations
what are the clinical features of Trisomy 13, Patau’s syndrome?
- structural brain defects
- scalp defects
- small eyes
- cleft lip and palate
- polydactyly
- cardiac and renal malformations
define kernicterus
-encephalopathy resulting from the deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei
what are the causes of jaundice in a <24 hour old?
- haemolytic disorders
- congenital infection
what are the causes of jaundice in a 2 day to 2 week old?
- physiological
- breast milk
- dehydration
- infection
- crigler najjar
what are the causes of jaundice in a >2 week old?
- biliary atresia
- breast milk
- infection
- congenital hypothyroidism
how is Noonan syndrome inherited?
-autosomal dominant
what are the clinical features of Noonan syndromes?
- Short stature
- Dysmorphic facial features: wide spaced and down slanting eyes with vivid blue or green irides; low-set posteriorly rotated ears; inverted, triangular shaped face with small chin; a broad or webbed neck
- Cryptorchidism
- Cardiac anomalies: pulmonary valve stenosis/dysplasia, septal defects, hypertrophic cardiomyopathy
- Delayed puberty
- Easy bruising or bleeding
- Lymphoedema
- Pigmentary anomalies: café au lait, lentigines, nevi, keratosis
- Sparse or absent eyebrows and lashes
- Splenomegaly
- Chest deformity: pectus carinatum and excavatum
- Developmental delay
- Cubitus valgus; short fingers with blunt fingertips; joint hyperextensibility; talipes equinovarus; joint contractures; scoliosis; radioulnar synostosis
- Muscle weakness
how is phenylketonuria inherited?
-autosomal recessive
what are the clinical features of phenylketonuria?
- Intellectual disability
- Microcephaly
- Eczema
- Light pigmentation of eyes and hair
- Seizures
- Musty odour of urine
how is phenylketonuria managed?
-lifelong dietary phenylalanine restriction
what are the criteria for a diagnosis of Reye’s syndrome?
- an acute, non-inflammatory encephalopathy with either sterile CSF containing <9 WBC/mL or cerebral oedema without inflammatory cell infiltrate
- hepatic dysfunction documented by either a threefold elevation of serum transaminases and/or serum ammonia, or liver biopsy demonstrating fatty infiltration
- there is no other diagnosis to account for the cerebral and hepatic derangement.