ملخص
The authors report an 11-month-old boy with Menkes kinky hair disease who presented with global delay in acquiring milestones and repeated myoclonic jerks. He had scanty, hypopigmented scalp hairs with steely wool-like texture and intervening zones of alopecia. There was low serum ceruloplasmin (5 mg/dL) and copper (24.2 μg/dL). Neuroimaging of the brain revealed marked cerebral atrophy and significant delayed myelination. Magnetic resonance angiography showed tortuous cerebral and neck blood vessels. There was poor therapeutic response to symptomatic treatment.
اللغة الأصلية | English |
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الصفحات (من إلى) | 452-455 |
عدد الصفحات | 4 |
دورية | Journal of Child Neurology |
مستوى الصوت | 22 |
رقم الإصدار | 4 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | Published - أبريل 2007 |
منشور خارجيًا | نعم |
ASJC Scopus subject areas
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