[Clinical and laboratory features of the Menkes disease].
OBJECTIVE
To study the clinical and laboratory features of the patients with Menkes disease.


METHODS
Three infants were diagnosed as Menkes disease. Their clinical feature, laboratory findings, radiological manifestation and genes were reviewed.


RESULTS
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 respectively.


CONCLUSIONS
Menkes disease is an X-linked recessive disorder characterized by a copper-transporting ATPase defect. The main clinical manifestation is progressive nerve damage. Patients with the disease have special face and hair abnormality, and have morphological changes of brain blood vessels and cerebral atrophy.
Wang
Xiao-hui
XH
Department of Neurology and Rehabilitation, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.
Lü
Jun-lan
JL
Zhang
Li-ping
LP
Zou
Li-ping
LP
Wu
Hu-sheng
HS
Wang
Xu
X
Yang
Xin-ying
XY
D002570:Ceruloplasmin / Q000032:analysis*; D019411:Clinical Laboratory Techniques; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000097:blood* / Q000175:diagnosis*
D002570:Ceruloplasmin