Hypomelanosis of Ito with Partial Motor Seizure and

Hypomelanosis of I to [HI] or Incontinentia pigmenti achromians [OMIM no. 146150]. Ito first introduced the syndrome 1951 [1]. It is a rare neurocutaneous syndrome that involves mainly skin and nervous system symptoms in 75 % of cases and may be associated with multiple organ systems involvement including the head and face, eyes (microphthalmia, cataracts, optic atrophy, and retinal detachment), teeth, cleft lip and palate, heart (tetralogy of Fallot), kidneys, musculoskeletal (hemihypertrophy), and reproductive systems (precocious puberty) [2-4]. The incidence and prevalence of [HI] has been reported to be1/7540 births and 1/82,000 individuals, respectively [4]. McKusick`s catalogue of inherited diseases lists HI as an autosomal dominant disorder, although evidence for this mode of inheritance, or indeed for any genetic etiology, is inconclusive [2]. Frequency is equal among males and females. It is caused by Nonheritable mutation, and it have been reported frequently in association of various chromosomal abnormalities, including mosaicism for aneuploidy or unblanaced translocations, mosaic trisomy 18, ring chromosome 22, and translocations involving the X chromosome. There is no clear genotype phenotype correlation [2]. Only a few cases of HI have been reported with partial motor seizures in association with hemimegalencephaly [HME]. In order to highlight on this rare neurocutaneous disorder, this report describes such association in a 10 year old boy with skin hypopigmentation, craniofacial and musculosketetal abnormalities. Case Report A 10 -year-old male, left handed, 6th grade student was evaluated in our tertiary care neurology clinic for afebrile complex partial motor seizure with 2nd generalization, started one month prior to presentation. He had frequent episodes of sudden left-sided eye deviation and facial twitching with secondary left-sided unilateral and generalized tonic-clonic seizures. Each episodes last for less than 3 minutes, preceded by dizziness, pain in the right eye with blurred vision and headache, end spontaneously after an episode of vomiting , headache , and postictal sleep without loss of sphincter control . Seizures were controlled with levetiracetam (Keppra). He was a product uneventful pregnancy delivered by spontaneous vaginal delivery at 36 weeks gestational age, readmitted on 2nd day, and operated for intestinal intussusception. 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.