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 neurocutaneousdisorder that may present with neurological symptoms inearly infancy in addition to characteristic skin rashes. Wereport a two-mo-old girl presenting with a rash and enceph-alopathy. Magnetic resonance imaging of brain showedhemorrhagic infarcts. First we thought baby was sufferingfrom a skin infection with meningo-encephalitis and laterwith development of characteristic skin lesions, neuroimag-ing and skin biopsy changes we reconsidered our diagnosisas Incontinentia pigmenti.

Keywords Incontinentia pigmenti . Encephalopathy .

Skin rashes . Seizures

Introduction

Incontinentia Pigmenti (IP) is a rare X-linked dominantgeno-dermatosis which mainly affects females. The diseaseis multi-systemic and involves tissues of ectodermal andmesodermal in origin [1]. The name IP is related to thehistological characteristics of the disease, that is, melaninincontinence by melanocytes in the basal epidermal layerand its presence in the superficial dermis in the final stage ofthe 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 ofsecond degree consanguineously married couple born after

uneventful antenatal and birth history. She presented withrefusal of feeds of 5 d, drowsiness and convulsions of 3 dduration. There was no history of fever. There was history offluid filled skin lesions over trunk, upper and lower limbssince day two of life. There was history of similar skinlesions in the mother and maternal grandmother duringinfancy, which resolved later.

On examination, weight, length, and head circumferencewere normal. Vitals were stable. Vesicles, verrucous plaquelesions in a linear fashion over upper and lower limbs werepresent (Fig.1). Child was lethargic, with increased tone inboth upper and lower limbs and brisk deep tendon reflexes.Fundus examination was normal. Investigations showedeosinophilia, normal serum electrolytes, calcium, and arte-rial blood gas. Blood culture was sterile. Cerebrospinal fluidexamination was normal and Polymerase chain reaction(PCR) negative for Herpes simplex virus. Magnetic reso-nance imaging (MRI) showed signal changes in corpuscallosum, thalami, and bilateral para-ventricular white mat-ter fronto-temporo-parietal lobes suggestive of acute andsub-acute infarcts (Figs. 2, 3, and 4). EEG showed multifo-cal epileptiform discharges. Skin biopsy was done and itshowed vacuolar degeneration of the epidermal basal cellsand melanin in phagocytes of upper dermis. These featureswere 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 inthe mother and maternal grandmother, MRI and skinbiopsy findings the diagnosis as Incontinentia Pigmentiwas reconsidered.

Child was initially treated with antibiotics and pheno-barbitone. Child’s sensorium improved over a period of2 wk, however, spasticity was persisting. During follow-up at 5 mo showed recurrence of seizures, developmentaldelay and spastic quadriparesis. Skin lesions became hy-per pigmented on the trunk and limbs, distributed in themacular whorls.

V. K. N. Gowda (*) : C. Mouly :A. Biswas : S. ShivanandaIndira Gandhi Institute of Child Health,Bangalore, Karnataka, Indiae-mail: drknvraju@hotmail.com

Indian J PediatrDOI 10.1007/s12098-012-0916-4

Discussion

The neurological manifestations in IP occur in one thirdof cases, predominantly manifest as seizures (13 %), men-tal retardation (8 %), and spastic paralysis (11 %) [4].Other neurological features that may be seen are micro-cephaly, ataxia, hyperactivity, and strokes. Encephalitis ordestructive encephalopathy have been rarely reported [5,6],. A series aiming to describe the clinical, neuroimagingfindings with MRI in 12 patients with IP showed brain

abnormalities in five girls who had neurologic signs asso-ciated with the cutaneous lesions of IP [7]. Lesions in-volved cortex, subcortical and deep white matter, andependymal and subependymal zones of one or both cere-bral hemispheres [7].

This child presented with acute encephalopathy with skinlesion with residual deficits of spastic quadriparesis. Theauthors initially suspected skin infection with sepsis withmeningo-encephalitis. Investigations were not suggestive ofany infection. The MRI supports clinical diagnosis andexplains features of encephalopathy and seizures. Girl childwith classical rashes with family history of similar rashes,eosinophilia, skin biopsy and MRI findings supports diag-nosis of IP.

Diagnosis of IP is made on clinical grounds and withmajor criteria of classical skin lesions [8]. and skin biopsyconsistent with IP. IKBKG is the only gene known to beassociated with IP. Due to lack of availability of geneticstudies in our country and positivity rate of 65 % for geneticstudies in IKBKG, [8] mutational studies were not done.There is no specific treatment. Symptomatic and supportivecare is advised depending on the system involved.

Parenchymal abnormalities were most severe in patientswith neonatal severe cutaneous lesions, especially if thesewere located in the scalp. Cerebral lesions were present frombirth or the first months of life and changed little thereafter[7]. So far MRI features described in neonates with IPresemble this child [5].

Fig. 1 Shows verrucous plaque lesions in a linear fashion over bilat-eral upper and lower limbs

Fig. 2 MRI-DWI showsrestriction involving corpuscallosum, thalami

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Fig. 3 MRI-DWI shows para-ventricular white matter whichappear dark in ADC imagessuggestive of acute infarcts

Fig. 4 T2W FLAIR- Imagesshows hyperintense signalsinvolving para-ventricularwhite matter of bilateralfronto-temporo-parietal lobessuggestive of subacute infarcts

Indian J Pediatr

Conclusion

One should think possibility of incontinentia pigmenti whena child presents with encephalopathy with skin lesions afterexclusion of other causes like sepsis with neuro infectionsand herpes simplex encephalitis.

References

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case report with affected men. Literature review. Med Oral PatolOral Cir Buccal. 2005;10:E122–9.

3. Smail Hadj-Rabia, Froidevaux D, Nathalie Bodak, et al. NathalieBodak, Clinical study of 40 cases of Incontinentia pigmenti. ArchDermatol. 2003;139:1163–70.

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8. Scheuerle A, Ursini MV. Incontinentia Pigmenti. 1999 Jun8 [Updated 2010 Oct 28]. In: Pagon RA, Bird TD, Dolan CR, etal. eds. GeneReviews™ [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1472

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