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- Title
An infant with hair like fur of a teddy bear.
- Abstract
The constellation of a hypotonic male infant with seizures and "kinky" hair is suggestive of Menkes disease (MD), an X-linked recessive neurodegenerative disorder of copper metabolism with multi-systemic manifestations, including brain abnormalities, tortuous vessels, joint laxity, skeletal changes, hair and skin changes, as well as immunosuppression. Patients are typically diagnosed at 3-6 months old due to strikingly abnormal hair, with the hypopigmented hair resembling steel wool. MD is a rare condition, but the peculiar and characteristic hair remains a critical clue to its early diagnosis and treatment to reduce morbidity.
- Subjects
TEDDY bears; HAIR; FUR; INFANTS; CYTOCHROME oxidase
- Publication
Journal of Paediatrics & Child Health, 2020, Vol 56, Issue 2, p343
- ISSN
1034-4810
- Publication type
journal article
- DOI
10.1111/jpc.2_14657