Encephalocraniocutaneous lipomatosis (Haberland syndrome) in a newborn baby: a case report with review of literature
| Autor: | Zehra Filiz Karaman, Şerife Ebru Özüdoğru |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Porencephalic cyst Eye Diseases Choristoma 03 medical and health sciences 0302 clinical medicine Arachnoid cyst medicine Polymicrogyria Humans Lipomatosis Leptomeningeal angiomatosis business.industry Neurocutaneous Syndromes Infant Newborn Infant Syndrome General Medicine medicine.disease Dermatology Pediatrics Perinatology and Child Health Encephalocraniocutaneous Lipomatosis 030221 ophthalmology & optometry Neurology (clinical) Neurosurgery Skin lesion business 030217 neurology & neurosurgery |
| Popis: | Encephalocraniocutaneous lipomatosis (ECCL) is an extremely uncommon, neurocutaneous disease, with a classical triad of ocular, skin lesions and central nervous system anomalies. We here report a case of ECCL in a newborn baby, characterized with naevus psiloliparus, choristoma, lipodermoids, cervical subcutaneous soft tissue mass, lowset ear, porencephalic cyst, polymicrogyria, arachnoid cyst, leptomeningeal angiomatosis and spinal lipomas. We here stress on the importance of early diagnosis to prevent misdiagnosis and employ a multidisciplinary approach in the management of these patients. |
| Databáze: | OpenAIRE |
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