Abstract
Hypomelanosis of Ito with Partial Motor Seizure and Hemimegaloencephaly: Case Report
Highlights
Hypomelanosis of I to [hypomelanosis of ito (HI)] or Incontinentia pigmenti achromians [OMIM no. 146150]
An important differential diagnosis is Tuberus Sclerosis Complex, where the hypopigmented patch appears during the 1st year of life mainly on trunk or extremities, and as the child approaching puberty other skin manifestations appear like adenoma sebaceum, on the face, shagreen patch on the back and periungual fibroma [3,4]
(Table 1) Neurologic manifestations include intellectual impairment with mild to severe mental deficiency (IQ
Summary
Hypomelanosis of I to [HI] or Incontinentia pigmenti achromians [OMIM no. 146150]. Ito first introduced the syndrome 1951 [1]. Past history included a slower cognitive and language development in comparison to other siblings, skin hypopigmentation noted at 6 months of age, bronchial asthma, abnormal dentation with frequent dental caries, and tonsillectoy-adenectomy operation for frequent tonsillitis His parents were consanguineous and there was a history of seizure disorder in two sons of paternal uncle from twin pregnancy. Hypopigmented areas (whorl-like and streaks) noted on the anterior and the lateral aspects of both legs extending to involve the left shine anteriorly and another similar one but with small size seen at the right shoulder (Figure 1) His neurological examination revealed poor short-term memory and cognitive delay, especially in terms of general knowledge, the ability to read and mathematical concepts and mild right hemiparesis. Magnetic resonance imaging scan of the brain (MRI) revealed similar findings with small arachnoid cyst at left middle fossa with no evidence of neuronal migration
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
