Encephalocraniocutaneous lipomatosis: A rare congenital neur
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Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome is a rare sporadic congenital neurocutaneous disorder characterized by unilateral lipomas of the cranium, face and neck, ipsilateral lipodermoids of the eye and ipsilateral brain anomalies. ECCL syndrome has quite a specific neuroimaging pattern that is well seen with MR imaging.

A 2-year-old child who presented with global developmental delay and seizures since 5 months of age along with a nonprogressive swelling in the left eye since birth. Antenatal history was uneventful and the child was delivered by a normal vaginal route at term with a normal cry at birth. On physical examination, a patch of alopecia was noted on the scalp on left side along with epibulbar dermoid in the left eye .

A preliminary non-contrast CT scan of the head was done in the emergency radiology department following an episode of generalized tonic-clonic seizures that showed atrophy of the left cerebral parenchyma with a prominent ventricular system more pronounced in the occipital horn of left lateral ventricle (Fig.c) along with few intracranial lipomas which were noted at the prepontine cistern and cerebellopontine angle on the left side.

The child was further evaluated with MRI. MRI brain on a 3T MRI scanner demonstrated multiple left cerebral abnormalities including cerebral atrophy, a paucity of temporoparietal white matter and an abnormal cerebral cortical morphology (polymicrogyria). Few extra-axial lipomas in the prepontine cistern and at the cervicomedullary junction were also noted on T1W MR images. Few extra-axial lipomas were also noted at the cervicomedullary junction.

Source:https://www.sciencedirect.com/science/article/pii/S1930043320300492?dgcid=rss_sd_all
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