PAEDIATRICS Flashcards
(151 cards)
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