Haberland syndrome: Encephalocraniocutaneous syndrome presenting as status epilepticus
We report a 5-year-old female child who presented with fever and status epilepticus with a history of global developmental delay, patchy alopecia over the frontal region, and bilateral dermolipoma in the conjunctiva and sclera. These findings are consistent with a diagnosis of encephalocraniocutaneo...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2020-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | We report a 5-year-old female child who presented with fever and status epilepticus with a history of global developmental delay, patchy alopecia over the frontal region, and bilateral dermolipoma in the conjunctiva and sclera. These findings are consistent with a diagnosis of encephalocraniocutaneous lipomatosis. This is a rare condition reported infrequently across the world. The child also had the specific neurological manifestations of this condition, specifically epilepsy presenting as status epilepticus. |
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| Item Description: | 2349-6592 2455-7099 10.4103/JPCC.JPCC_25_20 |