Hypomelanosis of Ito with hemimegalencephaly.
Hypomelanosis of Ito is a neurocutaneous syndrome characterized by hypopigmented lesions occurring in streaks and whorls located on the trunk, head or extremities. The associated neurological manifestations include mental retardation, seizures, language disabilities and motor system dysfunction. Hemihypertrophy has also been described in this syndrome. We present a 3-month-old male infant with Hypomelanosis of Ito, hemi-hypertrophy and hemi-megalencephaly.
Sharma
Suvasini
S
Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Sankhyan
Naveen
N
Kabra
Madhulika
M
Kumar
Atin
A
D002658:Developmental Disabilities / Q000150:complications / Q000175:diagnosis*; D005500:Follow-Up Studies; D006801:Humans; D017496:Hypopigmentation / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D008991:Monitoring, Physiologic / Q000379:methods; D018570:Risk Assessment; D012640:Seizures / Q000150:complications / Q000175:diagnosis; D012720:Severity of Illness Index