Menkes kinky hair disease: A case report.
An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study.
Datta
Asok K
AK
Department of Pediatrics, Burdwan Medical College, Burdwan-713101, West Bengal, India. drasokdatta@yahoo.co.in.
Ghosh
Taraknath
T
Nayak
Kaustav
K
Ghosh
Mrinalkanti
M
Science. 1973 Mar 16;179(4078):1140-2
4120259
Pediatr Int. 1999 Aug;41(4):423-9
10453199
Pediatrics. 1972 Aug;50(2):188-201
5045349
Indian Pediatr. 2002 Feb;39(2):183-5
11867850
Am J Med Genet. 1998 Mar 5;76(2):154-64
9511979
Am J Hum Genet. 2000 Apr;66(4):1211-20
10739752