AI Summary & Key Takeaways
AI InsightWe present this case to emphasize that Menkes disease is a rare entity and to draw attention to the typical hair findings to support the diagnosis.
📌 3 Key Takeaways
Abstract
Menkes disease is a rare neurodegenerative disorder which is inherited X-linked recessive. Clinical findings occurs due to defect in cooper absorption and transport and disorders of copper-dependent enzyme activities. The patient who was being examined with a history of seizures and hypotoni, then he was diagnosed with Menkes disease by the hair findings. We present this case to emphasize that Menkes disease is a rare entity and to draw attention to the typical hair findings to support the diagnosis.
Özet
Menkes hastalığı X’e bağlı resesif geçişli, ender olarak görülen nörodejeneratif bir hastalıktır. Klinik bulgular bakır emilimi ve taşınmasındaki bozukluk ve bakır bağımlı enzimlerin aktivitelerindeki bozukluktan ortaya çıkmaktadır. Bu makalede hipotoni ve nöbet öyküsü ile tetkik edilirken saç bulguları sayesinde Menkes hastalığı tanısı alan olgu, hastalığın ender görülmesi ve tanıda saç bulgularının önemini vurgulamak amacıyla sunuldu.