Menkes kinky hair disease : A case report Asok

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. Introduction Menkes disease is an X-linked lethal multi system disorder caused by disturbances of copper distribution in different tissues due to mutation of p ATPase7 gene. The estimated prevalence of the disease is 1 in 100000 to 1 in 250000 [1]. The affected individual suffers from malfunction of copper containing enzymes resulting in multi systemic disturbances. Nervous system problems include gross mental retardation, convulsions, cortical atrophy, asymptomatic subdural effusion, grosss trunkal hypotonia and progressive neurological deterioration, Vascular problems with weak collagen tissues causes easy breakability, connective tissue abnormality gives rise to characteristics steel, fuzzy, wooly, sparse hair with easy pluckability [2]. The bones are osteopenic. There are chances of recurrent infections and as a result the infant fails to thrive and malnutrition is a common finding [3]. The infant usually die within 3–4 years of age. In 1962, Menkes first described the syndrome and Drank et.el noted the association with copper metabolism [4]. The affected gene was cloned in 1993. Case report An eight month old male hindu tribal infant from a rural area Tatarpur, Memary, Burdwan, a product of nonconsanguineous marriage, admitted in the hospital with the chief complaint of recurrent attacks of convulsion since four months of age, recurrent respiratory difficulty since six months of age which was aggravated for last seven days and associated with fever. The mother also informed that her baby was lagging in growth and development in comparison to the other children of same age and sex in the community. The child had admitted twice before with bronchopneumonia. The infant has three brothers. Eldest one is 5 years, middle one died at fifteen days after birth. They live in a nuclear family in a mud built 2 rooms house with no sanitary latrine, drink water from tube-well, take bath in pond, parents are labourer with monthly income approximate rupees one thousand only. Published: 18 September 2008 Cases Journal 2008, 1:158 doi:10.1186/1757-1626-1-158 Received: 25 August 2008 Accepted: 18 September 2008 This article is available from: http://www.casesjournal.com/content/1/1/158 © 2008 Datta et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.