Congenital Hypocupraemia Syndrome With and Without Steely Hair: Report of Two Japanese Infants
| Autor: | Taketoshi Sugiyama, Soichi Kodama, Noriko Sato, Satoshi Matsumoto, Sumiyoshi Yokoyama, Hitoshi Ogino, Kunihiko Osaka |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Disease Hair abnormality Atrophy Japan Developmental Neuroscience Seizures Pathognomonic Kinky Hair Syndrome medicine Humans Menkes Kinky Hair Syndrome integumentary system Brain Diseases Metabolic business.industry Infant Electroencephalography medicine.disease Subdural hygroma Pediatrics Perinatology and Child Health Neurology (clinical) Congenital hypocupraemia business Copper Hair |
| Zdroj: | Developmental Medicine & Child Neurology. 19:62-68 |
| ISSN: | 1469-8749 0012-1622 |
| DOI: | 10.1111/j.1469-8749.1977.tb08022.x |
| Popis: | Two Japanese infants with Menke's kinky hair syndrome are reported. The unusual finding in one infant was the absence of the hair abnormality characteristic of this disease; other findings were consistent with the diagnosis. It is suggested that hair abnormality cannot be relied upon for the diagnosis and that the term "kinky hair" is anappropriate. In its place "congenital hypocupraemia" is proposed as the diagnostic term to embrace patients with and without hair abnormality. Serum copper determination is a simple and reliable test in the diagnosis of this syndrome and should be done routinely in all male patients with unexpected deterioration. The angiographic features present in these patients with unexpected deterioration. The angiographic features present in these patients are characteristic but not pathognomonic of the disease. Subdural hygroma, a common finding, is the result of severe brain atrophy and little can be expected by surgical intervention. |
| Databáze: | OpenAIRE |
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