Last modified: 2014-04-03
Abstract
Introduction: Hypomelanosis of Ito (HI) syndrome is characterized by skin hypopigmentations often associated with systemic manifestation with high malformation of cortical development . Hemimegalencephaly is a rare, sporadic and non familial congenital brain malformation that involves overgrowth of one hemisphere. We report 2 month old Indian male baby with hypomelanosis of Ito associated with hemimegalencephaly (HME) and polymicrogyria, clinically presented with neonatal sezures, macrocrania and hypotonia.
Case report: Two months old baby , product of full term pregnancy and normal delivery refer to pediatric neurologist as a case of hypotonia, macrocrania and hypopigmented lesions. He was admmited to NICU because of respiratory distress and focal right sided epileptic seizures aborted with phenobarbiton. Birth weight was 3.1kg. Pregnancy was stimulate by hormons , after 5 years of infertility, and during 5th month of pregnancy some bleeding was noted. On examination baby showed linear areas of pigmentation affecting mainly left side of the body , including trunk, leg, hand as well as head and generalized hypotonia. Head circumference was 42cm. MRI brain revealed extensive bilateral frontoparietal polymicrogyria, dominant in the left hemisfere and left sided hemimegalencephaly. Corpus callosum looks fade in the region of anterior body and genum. EEG at the age of 1 month showed focal epileptiform abnormality over left posterior region where also slowing was presented.
Conclusion: We presented rare association of Hypomelanosis of Ito chacacterised by bilateral skin lesions and head involvement, with multiple brain malformation including hemimegalencephaly, polymicrogyria and dysgenesis of corpus callosum.