Clinical and laboratory features of the Menkes disease

• Published in: Zhonghua er ke za zhi Vol. 47; no. 8; p. 604
• Main Authors: Wang, Xiao-hui, Lü, Jun-lan, Zhang, Li-ping, Zou, Li-ping, Wu, Hu-sheng, Wang, Xu, Yang, Xin-ying
• Format: Journal Article
• Language: Chinese
• Published: China 01.08.2009
• Subjects: Ceruloplasmin - analysis; Clinical Laboratory Techniques; Humans; Infant; Male; Menkes Kinky Hair Syndrome - blood; Menkes Kinky Hair Syndrome - diagnosis
• ISSN: 0578-1310

To study the clinical and laboratory features of the patients with Menkes disease. Three infants were diagnosed as Menkes disease. Their clinical feature, laboratory findings, radiological manifestation and genes were reviewed. All the three cases were male infants. Their clinical manifestations began at the 3, 5 and 6 months after birth. They all had light complexion, sparse fuzzy woolly hair. The main clinical manifestation was severe mental retardation. The first and the third case also had focal clonus seizures. The second case had feeding difficulty after birth. Their hair showed pili torti and trichorrhexis nodosa microscopically. Their ceruloplasmin in plasma were 32.3 mg/L, 72.5 mg/L and 60.7 mg/L, which were significantly lower as compared with the normal values. Their neuroimaging findings were cortical atrophy, delayed myelination of the white matter and tortuosity of the intracranial vessels. The gene examination of the first and the second case showed deletion and nonsense mutation on exon 14 res