Menkes kinky hair disease: A case report.

Asok K Datta,Taraknath Ghosh,Kaustav Nayak,Mrinalkanti Ghosh

doi:10.1186/1757-1626-1-158

Asok K Datta, Taraknath Ghosh + Show 2 more

Open Access

https://doi.org/10.1186/1757-1626-1-158

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Journal: Cases journal	Publication Date: Sep 18, 2008
Citations: 13	License type: CC BY 2.0

Affiliation: Burdwan Medical College & Hospital

Abstract

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.

Highlights

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
In 1962, Menkes first described the syndrome and Drank et.el noted the association with copper metabolism [4]
The Magnetic Resonance Imaging (MRI) study of the brain revealed prominent bilateral extra-axial C.S.F. spaces with gliosis in both posterior parieto-occipital area with prominent left lateral ventricle and cerebellar folias (Figure 2)

Summary

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 ATPase gene. 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. On investigation the infant was found suffering from mild anemia (Hb = 9 gm%), total leucocyte count was increased 16000/dl due to chest infection, cerebrospinal fluid study was normal, chest X-ray showed pneumonitis and the ribs were found osteopenic. The MRI study of the brain revealed prominent bilateral extra-axial C.S.F. spaces with gliosis in both posterior parieto-occipital area with prominent left lateral ventricle and cerebellar folias (Figure 2).

Discussion

Findings

Conclusion

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