A Case of Neonatal Hypomelanosis of Ito With Early-Onset Refractory Seizures and Cortical Malformations

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome characterized by unilateral or bilateral hypopigmented skin lesions arranged in linear, whorled, or patchy patterns, typically following the lines of Blaschko. The condition is frequently associated with multisystem involvement, including abnormalities of the central nervous system, musculoskeletal structures, ocular system, and dentition. We report the case of a seven-day-old female neonate who presented with left-sided hypopigmented skin lesions accompanied by ipsilateral hemihypertrophy and focal clonic seizures of the left upper and lower limbs. Physical examination revealed well-demarcated, linear, and whorled hypopigmented macules distributed along the lines of Blaschko, confined to the left side of the trunk and extremities while sparing the face. Dysmorphic features included macrocephaly, frontal bossing, deep-set eyes with epicanthic folds, low-set ears, and micrognathia. Neurological examination demonstrated generalized hypotonia with diminished neonatal reflexes. Although rare, HI is acknowledged as the third most prevalent neurocutaneous syndrome. We report one of the earliest documented neonatal presentations, manifesting with focal seizures within the first week of life. The case highlights the hallmark dermatological and neuroimaging features of HI and is distinguished by the rare coexistence of multiple radiological abnormalities. This study underscores the critical role of early neuroimaging in neonates presenting with cutaneous mosaicism and seizures, enabling timely recognition of underlying structural brain anomalies.