Encephalocraniocutaneous lipomatosis: a case report and review of the literature

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. The left eye showed conjunctival congestion and corneal vascularization. Dermatological examination showed alopecia, nevus psiloliparus, focal dermal hypoplasia on forehead, multiple focal aplastic lesions on the scalp, skin tag at canthus, and lipoma in the fronto-temporal region. Imaging revealed calcification of the right globe, hydrocephalus, agenesis of corpus callosum, multiple intracranial cysts, calcification, and lipomas. The constellation of these clinical and the imaging findings led to a diagnosis of encephalocraniocutaneous lipomatosis. This case report and review of the literature is presented to provide a synopsis of problems likely to be encountered by an ophthalmologist who treats patients with ECCL.

Figure 1

Mechanical ptosis and proptosis of the right eye, upper eyelid coloboma (black arrow), fullness in eyelids, conjunctival hypertrophy (white arrow), and conjunctival discharge

Figure 2

(a) Corneal clouding and vascularization, bulbar conjunctival hypertrophy, and nasal limbal dermoid (black arrow) in the right eye (b) Conjunctival congestion and corneal vascularization (white arrow) in the left eye

Figure 3

Hypoplastic skin lesion at forehead (black asterisk), lipoma in right fronto-temoporal region, (white arrow) and large ipsilateral nevus psiloliparus (arrowhead) and skin tag at right lateral canthus (black arrow)

Figure 4

Large nevus psiloliparus extending from right side of the cheek to the fronto-temporo-parietal area of scalp (black arrows) and focal dermal aplasia in right temporal region of scalp (blue arrows)

Figure 5

Multiple punched out lesions (focal dermal aplasia) on occipital region of scalp (blue arrows)

Figure 6

Trans-frontal neuro-ultrasonography of an encephalocraniocutaneous lipomatosis patient showing (a) agenesis of corpus callosum (arrow); (b) dilated lateral ventricles suggestive of hydrocephalus

Figure 7

Axial computed tomography of the brain and orbit showing calcification on posterior sclera of the right eye (double arrow), fatty infiltration in anterior orbit (curved arrow), normal sized eyeballs and absence of orbital cyst, lipomas in right temporal region (white arrows), near right cerebello-pontine angle (white arrowhead) and in the right cerebrum (black arrow) with calcification at margin (black arrowhead)

Figure 8

Axial CT scan of the brain showing asymmetrically dilated lateral ventricles (white arrows), multiple intracerebral calcification (black arrows), and intracranial cyst in right cerebrum (arrowhead)