Microcephaly- hiatal hernia and nephrotic syndrome


A condition which is characterized by microcephaly, hiatal hernia and nephrotic syndrome.


* Benign familial * Hypoxic ishemic encephalopathy * Intrauterine infection (TORCH) * Teratogens –Ethanol –Cocaine –Isotretinoin –Phenytoin * Down syndrome * Trisomy 13 * Trisomy 18 * Lissencephaly * Holoprosencephaly * Anencephaly * Porencephaly * Intrauterine stroke o Malnutrition –Typically preceded by decreased weight and height velocities * Growth hormone deficiency * Thyroid hormone deficiency * Panhypopituitary * Chromosomal deletions * Smith-Lemli-Opitz syndrome (SLO) * Menkes syndrome (kinky hair disease) * Neuronal ceroid-lipofuscinosis * Rett syndrome –Normal head circumference at birth –Acquired microcephaly after 6 months * Incontinentia pigmenti * Alper disease * Phenylketonuria (PKU) * Pelizaeus-Merzbacher * Cri-du-chat syndrome * Cornelia de Lange syndrome


Measurehead circumference, weight, and height at each well-child visitusing growth charts published by the CDC (2001). If these measurementsare proportional, child most likely is small in size and does not haveprimary abnormality in brain growth. Head circumference that is proportionallysmaller than weight and length usually signifies primary decreasein brain growth or secondary process (e.g., hypoxic-ischemic encephalopathyor infection).


* Hormonal deficiency –Treat with hormonal supplements immediately * Smith-Lemli-Opitz –Cholesterol supplementation helps with affect * PKU –Treat by dietary restriction of phenylalanine * Menkes syndrome –Treat with copper supplementation * Other causes of syndromic or nonsyndromic microcephaly –Most cannot be treated –Management involves addressing neurologic symptoms –Anticipatory guidance to the caregivers