Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome

Abstract

Purpose: To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement.

Methods: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities.

Results: The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL.

Conclusion: Since the skin and ocular manifestations can be easily observed at birth examination, pediatricians and ophthalmologists should be aware of this condition.

Keywords: Choristoma; Encephalocraniocutaneous lipomatosis; Neurocutaneous; Nevus psiloliparus.

Fig. 1

Ocular and dermal findings include: right upper lid coloboma, multiple soft skin-colored pedunculated periocular lesions, bulbar conjunctiva hypertrophy, corneal clouding and right limbal dermoid and soft, elevated, area of patchy hair loss in the frontotemporal region (nevus psiloliparus).

Fig. 2

Left fundus Retcam showing peripapillary hypopigmented creamy-white irregular choroidal lesion with normal optic disc and peripheral retina.

Fig. 3

Ultrasound of both eyes showed A scan with high intensity echo spikes and highly reflective choroidal mass with posterior acoustic shadowing in favor of posterior globe calcification.

Fig. 4

Axial non-contrast CT scan of brain and orbit shows fat density lesions in subcutaneous tissues of right temporal region, Ipsilateral suprasellar, and cerebellopontine angle hypodense lesion suggestive of lipomas. Focal calcifications are seen in posterior globe of both eyes.