Delhi Journal of Ophthalmology

Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder

Kirti Singh*, Mainak Bhattacharyya*, Keerti Wali*, Virendra Jain#, Seema Kapoor#, Sumit Kumar*
*Guru Nanak Eye Centre, Maulana Azad Medical College, Delhi India
#Lok Nayak Hospital, Delhi, India

Corresponding Author:

Mainak Bhattacharyya
Senior Resident, Guru Nanak Eye Centre,
Maulana Azad Medical College, New Delhi, India
E-mail: drmainakb@gmail.com

Received: 05-JAN-2017

Accepted: 08-MAR-2017

Published Online: 29-MAR-2017

DOI:http://dx.doi.org/10.7869/djo.265

Abstract
Encephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous syndrome is characterized by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation, calcification, lipomas of skull, eye, heart, connective tissue nevi along with alopecia. This case highlights the condition in a 4 day old male child who presented with bilateral red eye with mass lesion. Complete evaluation showed conjunctival hyperemia, lipodermoids with corneal vascularisation and healed choroiditis patches OD. Systemic work up revealed ipsilateral nevus psiloliparus, and undescended testis with megalourethra. Radiologic evaluation showed revealed diffuse cerebral atrophy, subarachnoid cyst in right temporal region along with dysplastic cortex, enlargement of both ventricular system and extra-axial CSF spaces along with marked atrophy of right antero-inferior temporal parenchyma. Child was managed conservatively and over a one year follow up the ocular condition remained unchanged with OU limbal lipodermoids and no conjunctival congestion.

Keywords :encephalocraniocutaneous lipomatosis, neurocuatenous, lipodermoid, cerebral atrophy

Encephalocraniocutaneous lipomatosis (ECCL) (formerly called Haberland or Fishman syndrome) is a rare neurocutaneous syndrome first described in 1970 by Haberland and Perou as an ectomesodermal dysgenesis.[1] It is characterized by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation and calcification, lipomas of skull, eye, heart, connective tissue nevi and alopecia.[1] (Table 1)

It has a classical triad of:

a) Cutaneous abnormalities: Nevus psiloliparus, subcutaneous lipoma in fronto-temporal region, focal dermal hypoplasia/ aplasia, skin-colored papules or nodules representing angiolipomas, fibrolipomas, connective tissue nevi, or mixed hamartomas, small nodular tags on eyelids.

b) Ocular abnormalities: Choristomas, colobomas, corneal or anterior chamber abnormalities (aniridia, dysplastic iris), microphthalmia, persistent posterior hyaloid system, papilledema, epicanthus inversus, hypertelorism.



c)  CNS abnormalities: Intracranial or intraspinal lipoma, abnormal intracranial vessels, complete or partial atrophy of a hemisphere, asymmetrically dilated ventricles or hydrocephalus, arachnoid cyst, porencephalic cyst, and calcification.[2]

Case Report

A 4 day old male baby presented with bilateral red eye along with a mass lesion in right eye. On examination bilateral conjunctival hyperemia and small limbal nodular lesions were noted. (Figure 1) The baby had no photophobia, discharge or lid swelling and central cornea was clear, with normal intraocular pressure. Pupil of right eye was mid dilated, non-reactive to light while left pupil was within normal limits. Hospital nursery records documented the congestion to be present at birth.



Child was a full term, normal vaginal delivery, with uneventful birth history, no history of consanguinity in the family and no family history of any similar ocular problems. The mother was 29 years old with mild pregnancy induced hypertension along with anemia requiring one unit of blood transfusion at 36 weeks of gestation.

A provisional diagnosis of bilateral ophthalmia neonatorum was made and treatment was initiated with topical azithromycin 1% and tobramycin 0.3% qid. Over a period of two weeks, congestion in left eye resolved but it persisted in the right eye, and the right limbal nodule slightly increased in size. No corneal enlargement, photophobia or tearing was noted. Retinal examination of right eye revealed patches of healed choroiditis, with no overlying vitritis and a normal optic nerve head. Left eye retinal examination was normal. (Figure 1) Topical fluoroquinolone (moxifloxacin 0.5% qid) drops along with topical acyclovir (3% tds) was initiated in right eye. Over a period of 4 weeks the congestion reduced and limbal mass lesion persisted without any increase in size.

Systemic examination revealed undescended testis on right side with megalourethra. Child’s hematological investigations including serology for TORCH, syphilis, hepatitis and HIV were negative, with a normal chest radiograph. Nevus psiloliparus was seen on right temporal region of skull. (Figure 1) Neuroimaging revealed diffuse cerebral atrophy involving fronto-temporal lobes (right more than left), enlargement of both ventricular system, dilated right lateral ventricles predominantly in occipital horn, subarachnoid cyst in right temporal region along with dysplastic cortex in right temporo-parietal region. (Figure 2). Although the neuroimaging findings were similar to hypoxic ischemic encephalopathy (HIE), based on the ocular and systemic features a final diagnosis of Encephalocraniocutaneous lipomatosis was made and child was monitored on an outpatient basis.



Over a follow up of 14 months the child manifested delayed milestones and had episodes of breath holding spells but no seizures. The ocular condition remained unchanged with Left eye limbal lipodermoids, with no conjunctival congestion. The healed choroiditis patches in right eye remained quiescent with no flare up of activity but the pupil remained unresponsive to light or near stimuli. Vision assessment of child documented functional vision in both eyes, which was not quantifiable.

Discussion

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital neurocutaneous syndrome. The tissues and organs primarily affected are of ectodermal and mesodermal origin, namely skin, adipose tissue, eye and brain, and are limited to one side of cranium, face and brain. Typical lesions exclusive to this syndrome are subcutaneous lipomas, patches of alopecia, ipsilateral, multiple brain malformations, eyelid defects and epibulbar dermoids.[3,4] Lesions are usually non progressive but are associated with infantile seizures in 50% cases along with variable degrees of psychomotor delay and motor impairment.[1]

The clinical features of ECCL overlap with other neurocutaneous syndromes and differential diagnoses include sebaceous nevus syndrome, oculo-cerebro-cutaneous syndrome, Proteus syndrome, oculo-auriculo-vertebral syndrome (Goldenhar’s syndrome), neurofibromatosis type-1, focal dermal hypoplasia syndrome (Gorlin-Goltz syndrome), epidermal nevus syndrome (Schimmelpenning syndrome), and oculoectodermal syndrome.[3,4] Encephalocraniocutaneous lipomatosis has no predominant gender, racial, or geographical association.[5] The genetic mechanism has been hypothesized to involve lethal autosomal dominant genes which survive by mosaicism. Manifestations are believed to occur due to dysgenesis of cephalic neural crest and anterior neural tube.[5] Moog et al hypothesized that ECCL may be caused by mosaicism for a mutation in an autosomal gene, encoding a factor involved in vasculogenesis of mesenchymal tumors. They suggested possible involvement of HMGA2 gene (600698), which frequently shows cytogenetic alterations in a variety of human mesenchymal tumors and was found disrupted by a constitutional rearrangement of 12q chromosome in a patient.[6]

The precise neuropathology of cortical dysgenesis cannot be discerned on neuroimaging findings. Histologic examination in a case revealed a polymicrogyric convolutional pattern.[1] Intracranial lipomas, leptomeningeal lipoangiomatosis, dysmorphic appearances of corpus callosum, and unilateral ocular calcifications are common associations.[1] Progression of the cranial lesions has been occasionally reported in hydrocephalus, and calcification, with the ventricular enlargement requiring a ventriculoperitoneal shunt.

Complications related to CNS malformation cause morbidity and mortality, due to risk for neoplasias like juvenile extra nasopharyngeal angiofibroma of gingiva, papillary glioneuronal tumor and low-grade glioma/ astrocytoma. Therefore, screening for these conditions is critical during follow-up of an asymptomatic chid. Prevention by antenatal diagnosis is usually not possible since intracranial malformations on antenatal sonogram are nonspecific. Ophthalmic management is limited to excision of choristomas with or without lamellar keratoplasty, removal of cutaneous lesions for cosmetic improvement and low vision rehabilitation.[7]

References
  1. Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. Arch Neurol 1970; 22:144­55.
  2. Moog, U. Encephalocraniocutaneous lipomatosis. J Med Genet 2009; 46:721 9.
  3. Nosti­Martinez D, Del Castillo V, Duran­Mckinster C, Tamayo­Sanchez L, Orozco­ Covarrubias M, Ruiz­Maldonado R. Encephalocraniocutaneous lipomatosis: an uncommon neurocutaneous syndrome. J Am Acad Dermatol 1995; 32:387­9.
  4. McMullin GP, Super M, Clarke MA. Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual, handicap and epilepsy: a report of two cases. Clin Genet 1993; 44:249­53.
  5. Andreadis DA, Rizos CB, Belazi M, Peneva M, Antoniades DZ. Encephalocraniocutaneous lipomatos is accompanied by maxillary compound odontoma and juvenile angiofibroma: Report of a case. Birth Defects Res A Clin Mol Teratol 2004; 70: 889-91.
  6. Valera ET, Brassesco MS, Scrideli CA, de Castro Barros MV, Santos AC, Oliveira RS, et al. Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas? Childs Nerv Syst 2012; 28:19-22.
  7. Chandravanshi SL. Encephalocraniocutaneous lipomatosis: A case report and review of the literature. Indian J Ophthalmol 2014; 62:622-7.

CITE THIS ARTICLE

Kirti Singh, Mainak Bhattacharyya, Keerti Wali, Virendra Jain, Seema Kapoor, Sumit KumarEncephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder.DJO 2017;27:274-276

CITE THIS URL

Kirti Singh, Mainak Bhattacharyya, Keerti Wali, Virendra Jain, Seema Kapoor, Sumit KumarEncephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder.DJO [serial online] 2017[cited 2022 Sep 25];27:274-276. Available from: https://www.djo.org.in/articles/27/4/encephalocraniocutaneous.html