Mystery Case: Bilateral alopecia as clue to diagnosis of Gomez-Lopez-Hernandez syndrome in a 38-year-old man
| Autor: | Cornelius Kronlage, Daniel G. Healy |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Absent corneal reflexes Neuroimaging Hypoplastic cerebellum Cerebral palsy Craniofacial Abnormalities 03 medical and health sciences 0302 clinical medicine Gomez Lopez Hernandez syndrome Cerebellum medicine Humans Abnormalities Multiple 030212 general & internal medicine Growth Disorders business.industry Neurocutaneous Syndromes Alopecia Anatomy medicine.disease Magnetic Resonance Imaging Hydrocephalus Rhombencephalon Aqueductal stenosis Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Neurology. 93:408-410 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.0000000000008004 |
| Popis: | A 38-year-old man with a diagnosis of cerebral palsy had MRI for headache. This showed hydrocephalus with aqueductal stenosis and a hypoplastic cerebellum (figure 1). On detailed examination, bilateral triangular patches of alopecia (figure 2) stood out. Subsequently, absent corneal reflexes were found, while careful review of the imaging revealed rhombencephalosynapsis (RES). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|