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Menkes kinky hair syndrome: a rare neurodegenerative disease.

Gandhi R, Kakkar R, Rajan S, Bhangale R, Desai S - Case Rep Radiol (2012)

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

View Article: PubMed Central - PubMed

Affiliation: Department of Radiology, Tata Memorial Hospital, Parel, Mumbai 400012, India.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Characteristic phenotypical appearance of baby—fuzzy sparse thin scalp hairs, fair complexion.
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fig1: Characteristic phenotypical appearance of baby—fuzzy sparse thin scalp hairs, fair complexion.

Mentions: Child continued to progress with convulsions and delayed milestones till 8 months of age at which time, on repeat examination, he had reduced tone, inguinal hernia, and poor hair growth (Figure 1).


Menkes kinky hair syndrome: a rare neurodegenerative disease.

Gandhi R, Kakkar R, Rajan S, Bhangale R, Desai S - Case Rep Radiol (2012)

Characteristic phenotypical appearance of baby—fuzzy sparse thin scalp hairs, fair complexion.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3420100&req=5

fig1: Characteristic phenotypical appearance of baby—fuzzy sparse thin scalp hairs, fair complexion.
Mentions: Child continued to progress with convulsions and delayed milestones till 8 months of age at which time, on repeat examination, he had reduced tone, inguinal hernia, and poor hair growth (Figure 1).

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

View Article: PubMed Central - PubMed

Affiliation: Department of Radiology, Tata Memorial Hospital, Parel, Mumbai 400012, India.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus