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- W4311494441 abstract "Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a neurocutaneous disorder of the skin, eye, and central nervous system. A three-month-old girl was referred to our center for further management of a large left eye corneal dermoid. At birth, a small lesion was noted. Magnetic resonance imaging (MRI) around the first week of life showed an extraocular dermoid cyst measuring 1 mm x 7 mm, dysplasia of the left greater wing of sphenoid, closed-lip schizencephaly of the left parietal lobe, and polymicrogyria. During examination under anesthesia at our center, we found that the corneal dermoid had grown in size to 17 mm x 16 mm, with posterior embryotoxon, a hazy cornea, and intraocular pressure of 26 mmHg. With the anterior segment dysgenesis and secondary glaucoma, we started Gutt Timo-Comod BD. Serial MRI imaging at four months of age revealed further enlargement of the dermoid, a new left retrobulbar mass, and multiple intracranial lipomas. A diagnosis of ECCL was made at this point based on the MRI and clinical findings. A multidisciplinary meeting was held among ophthalmology, neurosurgery, radiology, and otorhinolaryngology (ORL) teams, which concluded that surgical intervention such as tumor debulking might cause more harm than benefit. Hence, she was planned to undergo close monitoring with serial MRIs and only for surgical intervention, in the presence of airway compression or any neurological deficits. The ophthalmologist should be aware of the specific radiological and clinical findings in ECCL as management of the condition would be best through a multidisciplinary approach." @default.
- W4311494441 created "2022-12-26" @default.
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- W4311494441 date "2022-12-14" @default.
- W4311494441 modified "2023-09-30" @default.
- W4311494441 title "Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review" @default.
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- W4311494441 doi "https://doi.org/10.7759/cureus.32498" @default.
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