CLINICAL BRIEF Incontinentia Pigmenti Presenting as Encephalopathy Vykuntaraju K. N. Gowda & Chandra Mouly & Asthik Biswas & Shivananda Shivananda Received: 9 April 2012 / Accepted: 16 October 2012 # Dr. K C Chaudhuri Foundation 2012 Abstract Incontinentia Pigmenti is a rare neurocutaneous disorder that may present with neurological symptoms in early infancy in addition to characteristic skin rashes. We report a two-mo-old girl presenting with a rash and enceph- alopathy. Magnetic resonance imaging of brain showed hemorrhagic infarcts. First we thought baby was suffering from a skin infection with meningo-encephalitis and later with development of characteristic skin lesions, neuroimag- ing and skin biopsy changes we reconsidered our diagnosis as Incontinentia pigmenti. Keywords Incontinentia pigmenti . Encephalopathy . Skin rashes . Seizures Introduction Incontinentia Pigmenti (IP) is a rare X-linked dominant geno-dermatosis which mainly affects females. The disease is multi-systemic and involves tissues of ectodermal and mesodermal in origin [1]. The name IP is related to the histological characteristics of the disease, that is, melanin incontinence by melanocytes in the basal epidermal layer and its presence in the superficial dermis in the final stage of the disease [2]. Neurological features occur in 30 % of cases [3]. The authors are reporting the clinical and imaging find- ings of two-mo-old girl with extensive hemorrhagic infarcts. Case Report An apparently healthy 46 d-old girl baby, only child of second degree consanguineously married couple born after uneventful antenatal and birth history. She presented with refusal of feeds of 5 d, drowsiness and convulsions of 3 d duration. There was no history of fever. There was history of fluid filled skin lesions over trunk, upper and lower limbs since day two of life. There was history of similar skin lesions in the mother and maternal grandmother during infancy, which resolved later. On examination, weight, length, and head circumference were normal. Vitals were stable. Vesicles, verrucous plaque lesions in a linear fashion over upper and lower limbs were present (Fig.1). Child was lethargic, with increased tone in both upper and lower limbs and brisk deep tendon reflexes. Fundus examination was normal. Investigations showed eosinophilia, normal serum electrolytes, calcium, and arte- rial blood gas. Blood culture was sterile. Cerebrospinal fluid examination was normal and Polymerase chain reaction (PCR) negative for Herpes simplex virus. Magnetic reso- nance imaging (MRI) showed signal changes in corpus callosum, thalami, and bilateral para-ventricular white mat- ter fronto-temporo-parietal lobes suggestive of acute and sub-acute infarcts (Figs. 2, 3, and 4). EEG showed multifo- cal epileptiform discharges. Skin biopsy was done and it showed vacuolar degeneration of the epidermal basal cells and melanin in phagocytes of upper dermis. These features were consistent with Incontinentia Pigmenti Initially the authors thought possibility of neuroinfec- tion. Investigations did not show any evidence of infec- tion. With characteristic family history of skin lesions in the mother and maternal grandmother, MRI and skin biopsy findings the diagnosis as Incontinentia Pigmenti was reconsidered. Child was initially treated with antibiotics and pheno- barbitone. Child’ s sensorium improved over a period of 2 wk, however, spasticity was persisting. During follow- up at 5 mo showed recurrence of seizures, developmental delay and spastic quadriparesis. Skin lesions became hy- per pigmented on the trunk and limbs, distributed in the macular whorls. V. K. N. Gowda (*) : C. Mouly : A. Biswas : S. Shivananda Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India e-mail: drknvraju@hotmail.com Indian J Pediatr DOI 10.1007/s12098-012-0916-4