Developmental Paediatrics Flashcards
(83 cards)
when do the anterior fontanelles close at?
between 10 and 24 months
what are some causes of delayed closure of the anterior fontanelle?
congenital hypothyroidism, hydrocephalus, rickets, genetic causes (trisomy 21, Russel silver syndrome, achondroplasia
when does macrocephaly occur?
OFC is more than 2 SD than the average head size for age and sex.
what should you ask for in the history of a child with a big head?
vomiting, high pitch cry, developmental delay
RF for hydrocephalus (preterm birth, IVH, meningitis, learning disability (ASD, fragile X) or family history of genetic syndrome as with macrocephaly (neurofibromatosis 1)
what are red flags on examination of an enlarged head?
signs of raised ICP (bulging fontanelle, splaying of sutures, sunsetting of the eyes, papilloedema), evidence of developmental delay
syndromic features
what are the common causes of big head with a normal brain
familial, ASD, neurofibromatosis type 1, fragile X syndrome, benign enlargement of the subarachnoid space.
what are the rarer causes of enlarged head with a normal brain on MRI?
PTEN/ cowden/ proteus like syndrome costello syndrome sanfillipo syndrome glutamic acuduria type 1 langerhans cell histiocytosis peutz jeghers syndrome sotos syndrome
what are the causes of macrocephaly with abnormal brain
hydrocephalus
canavans disease
vanishing white matter syndrome
what is benign enlargement of the subarachnoid space?
enlargement of the subarachnoid space of cranial US, if normal Neuro and developmental exam then just need 6 monthly follow-up to make sure the head circumference is tracking correctly.
what should you do to for urgent OFC with associated features of raised ICP?
ED
what should you do with OFC that has crossed over 1 centile line without developmental delay
peads OPD
macrocephaly with syndromic features
referral to PEADS or genetics
macrocephaly with developmental delay
PEADS for MRI brain
what is the definition for microcephaly
this occurs when the OFC is greater than 2 SD smaller than the average head size and sex
what is the congenital microcephaly?
this is small head size present at birth
what is secondary microcephaly
this is normal OFC at birth with failure of normal head growth post natally.
what are the signs of congenital cytomegalovirus?
microcephaly, cataracts, petechial rash, hepatosplenomegaly
what are features of fetal alcohol syndrome
short palpebral fissures, smooth philtre, and and thin upper lip
what are the causes of microcephaly?
craniosynostosis
familial
genetic (trisomy 13, monogenic disorder, cri du chat)
metabolic (aminoacidurias, organic acidurias, urea acid disorder)
prenatal (congenital infections (TORCH, zika), PKU alcohol syndrome
prenatal brain injury (birth hypoxia)
postnatal brain injury (IVH/infarct)
small head babies when should you order a scan?
head size very small greater than 3 SD below mean
head size not keeping with familial size
developmental delay
microcephaly is post natal onset
when would you do CT over MRI in children with small head?
craniosynostosis, TORCH, Zika virus infections
what should you do with a child that has small head and you suspect an underlying congenital infections
Zika virus (serum and urine for Zika virus RNA, serum for Zika IgM) TORCH (toxplasmosis, syphilis, rubella, CMV, herpes simplex virus)
which of the TORCH infections are associated with microcephaly?
toxoplasmosis, CMV, HSV
what to do with microcephaly with delayed development?
order metabolic studies aminoacidurias, organic acidurias, and or very long chain fatty acids.