Encephalocraniocutaneous lipomatosis - Haberland syndrome

Case contributed by Dr Sinéad Culleton

Presentation

40-year-old male background of seizures presented with a prolonged seizure and reduced GCS.

Patient Data

Age: 40
Gender: Male

Depressed comminuted parietal bone fracture on the right side at the vertex, with an extension of the posterior fracture line across the midline to the cortex of the left vertex. This was due to head trauma while seizing.

There is a large right occipital porencephalic cyst with cerebral cortical atrophy and cortical calcification and surrounding lipomatosis. These findings suggest a diagnosis of Haberland's syndrome.

Case Discussion

The imaging findings, in this case, are suggestive of Haberland's syndrome, also known as encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis was described in 1970 by Haberland and Perou 1,2. Approximately 53 cases have been reported in the literature 1. This congenital neurocutaneous disorder involves a number of systems consisting of a lipomatous cutaneous lesions, unilateral ocular and neurological malformations. The exact cause is unknown and postulated to be due to ectodermal dysgenesis. 

There is a clinical spectrum with some patients leading normal lives, with normal psychomotor development. Others may have neurological complications, seizures and a reduced IQ. The characteristic dermatological findings are present at birth, but seizures may not present until later, and can develop at any time. 

The characteristic skin lesion is a "nevus psiloliparus", which means a hairless fat nevus. This is a unilateral soft tissue mass, does not cross the midline, often covered by telangiectasia and devoid of hair 3. It is considered pathognomonic. It may be bilateral but is more commonly unilateral. The lesions of the eyelid are most frequently lipomas 1.

Cerebral imaging shows a unilateral porencephalic cyst with ipsilateral cortical atrophy and meningeal enhancement, cranial asymmetry, intracranial lipomas, cranial asymmetry. Cerebral manifestations are ipsilateral to the nevus psiloliparus.

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Case information

rID: 40517
Case created: 24th Oct 2015
Last edited: 28th Oct 2015
Inclusion in quiz mode: Excluded

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