Encephalocraniocutaneous Lipomatosis Associated with Orbital Cyst: A Variant or New Entity?

Abstract

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland or Fishman syndrome, is an extremely rare congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues such as the central nervous system, eyes, and skin. The etiology of the disease remains unknown. Here we present a rare case of ECCL associated with bilateral eye involvement and orbital cyst from Sub-Saharan Africa. A 3-year-old boy presented with cystic right eye swelling since birth. Physical examination showed alopecia on right side of the scalp, ipsilateral ocular cyst, and microphthalmia with a contralateral limbal dermoid. Computed tomography of the brain revealed severe atrophy of the right cerebral hemisphere with an expansion of the cerebrospinal fluid space and dilatation of the lateral ventricle suggesting ex-vacuo hydrocephalus. Right orbital cyst continuous with the globe and calcification of the posterior aspect of both globes were also present. Histopathologic findings of the excised orbital cyst revealed an eyeball covered by fatty tissue, calcification of the cyst wall, and corneal opacity. Microscopy showed cornea-sclera wall composed of normal cartilage communicating with sandwich bony trabeculae with a focus of marrow cells, consistent with choristoma. The constellation of these findings conforms to Moog's revised diagnostic criteria for ECCL proposed in 2009. Although the disorder is easily recognizable at birth, neuroimaging is essential for appropriate diagnosis and management and to exclude or confirm other unusual associated abnormalities.

Keywords: Encephalocraniocutaneous lipomatosis; choristoma; nevus psiloliparus; orbital cyst.

Figure 1

Clinical photographs of the patient: (a) flaky granular pigmented hairless lesion over the right frontotemporal region extending down to the cheek; (b) right cystic eye with microphthalmia, and (c) craniofacial asymmetry, right orbital mass, and left eye limbal dermoid

Figure 2

Axial non-contrast-enhanced (a) and contrast-enhanced (b) computed tomography of the brain showing severe atrophy of the right cerebral hemisphere with an expansion of the cerebrospinal fluid space over the ipsilateral cerebral convexity and dilatation of the lateral ventricle on the same side (the so-called “exvacuo hydrocephalus”). No areas of abnormal contrast enhancement

Figure 3

Axial computed tomography of the brain at the level of the orbit showing a cystic right orbital mass on the same side of the cerebral lesion with inferior displacement of the lens of the eye (a-c) and associated calcification of the posterior aspect of the globes of both eyes (d)

Figure 4

Macroscopic view of the right eyeball covered by periorbital fat (a) with the cut surface of the eyeball revealing a thick calcified wall and corneal opacity (b). Photomicrographs (c and d) show cornea-sclera wall within which are normal cartilage that is communicating with a sandwich bony trabeculae with a focus of marrow cells (hematoxylin and eosin, x100)