Encephalocraniocutaneous lipomatosis: A case report with review of literature

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is an uncommon sporadic neurocutaneous syndrome of unknown origin. The rarity and common ignorance of the condition often makes diagnosis difficult. The hallmark of this syndrome is the triad of skin, ocular and central nervous system (CNS) involvement and includes a long list of combination of conditions. Herein we report a case of a 5-month-old male child who presented to our centre with complaint of seizure. The patient had various cutaneous and ocular stigmatas of the disease in the form of patchy alopecia of the scalp, right-sided limbal dermoid and a nodular skin tag near the lateral canthus of the right eye. MRI of the brain was conducted which revealed intracranial lipoma and arachnoid cyst. The constellation of signs and symptoms along with the skin, ocular and CNS findings led to the diagnosis of ECCL.

Keywords: Encephalocraniocutaneous lipomatosis; Haberland syndrome; neurocutaneous syndrome.

Figure 1.

A lesion within the right Meckel’s cave appearing hyperintense on T1-weighted imaging (WI) (a) and T2WI (b) showing suppression of signal intensity on T1 fat-suppressed sequences (c), suggesting diagnosis of Meckel’s cave lipoma. Also subcutaneous lipoma is seen over the right temporal region.

Figure 2.

A well-defined extra-axial CSF intensity lesion was noted in the right temporal region appearing hyperintense on T2WI (a) with suppression on FLAIR sequences (b) with no evidence of restriction on DWI (c) and ADC (d) suggestive of an arachnoid cyst. CSF: cerebrospinal fluid; T2WI: T2-weighted imaging; FLAIR: fluid-attenuated inversion recovery; DWI: diffusion-weighted imaging; ADC: apparent diffusion coefficient.

Figure 3.

(a)–(c) T2WI, T1WI and post-contrast fat-suppressed sequences show partial volume loss of the right cerebral hemisphere predominantly affecting the right temporal lobe with pulling of the ventricles and minimal midline shift towards the right suggesting atrophic changes. No focus of abnormal enhancement is seen. T2WI: T2-weighted imaging; T1WI: T1-weighted imaging.