Menkes Kinky Hair Syndrome : A Rare Neurodegenerative Disease

Joint Authors

Desai, Shrinivas
Gandhi, Rozil
Kakkar, Ritu
Bhangale, Rashmi
Rajan, Sajeev

Source

Case Reports in Radiology

Issue

Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2012-08-07

Country of Publication

Egypt

No. of Pages

4

Main Subjects

Diseases

Abstract EN

Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper.

Here, we describe a completely worked-up case of a 4-month-old male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis.

The initially seen asymmetric cortical and subcortical T2 hyperintensities in cerebral and cerebellar hemispheres converted into symmetrical diffuse cerebral and predominantly cerebellar atrophy with uniform loss of both white and grey matter on follow-up MRI.

Also, subdural hemorrhages of various sizes and different stages and tortuosity of larger proximal intracranial vessels with distal narrowing were identified.

Ours is a completely worked-up proven case of Menkes kinky hair disease (MKHD) with history, electroencephalography, biochemical, trichoanalysis, and MRI findings.

This is a good teaching case and shows importance of clinical examination and biochemistry as complimentary to MRI.

Tortuous intracranial arteries with blocked major vessels are found only in this disease, thus stressing the value of MR Angiography in these patients.

American Psychological Association (APA)

Gandhi, Rozil& Kakkar, Ritu& Rajan, Sajeev& Bhangale, Rashmi& Desai, Shrinivas. 2012. Menkes Kinky Hair Syndrome : A Rare Neurodegenerative Disease. Case Reports in Radiology،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-490342

Modern Language Association (MLA)

Gandhi, Rozil…[et al.]. Menkes Kinky Hair Syndrome : A Rare Neurodegenerative Disease. Case Reports in Radiology No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-490342

American Medical Association (AMA)

Gandhi, Rozil& Kakkar, Ritu& Rajan, Sajeev& Bhangale, Rashmi& Desai, Shrinivas. Menkes Kinky Hair Syndrome : A Rare Neurodegenerative Disease. Case Reports in Radiology. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-490342

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-490342