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Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease

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Abstract

Menkes disease is a rare inherited disorder of copper metabolism caused by mutations in the ATP7A gene. Its clinical course is characterized by early neurological regression, seizures, hypotonia and kinky friable hair. Neuroimaging typically reveals severe brain atrophy with subdural fluid collections and excessive tortuosity of cerebral arteries. The authors describe a case of Menkes disease with unusual imaging findings. The patient had macrocephaly and symmetrical bilateral confluent white matter changes with temporal cystic areas, reminiscent of megalencephalic leukodystrophy.

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Authors and Affiliations

  1. Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India

    Puneet Jain, Rachna Sehgal & Sheffali Gulati

  2. Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children’s Hospital, New Delhi, India

    Suvasini Sharma

  3. Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Naveen Sankhyan

  4. Department of Radiology, All India Institute of Medical Sciences, New Delhi, India

    Atin Kumar

  5. Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

    Madhulika Kabra

Authors
  1. Puneet Jain
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  2. Suvasini Sharma
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  3. Naveen Sankhyan
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  4. Rachna Sehgal
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  5. Atin Kumar
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  6. Madhulika Kabra
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  7. Sheffali Gulati
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Correspondence to Sheffali Gulati.

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Jain, P., Sharma, S., Sankhyan, N. et al. Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease. Indian J Pediatr 80, 160–162 (2013). https://doi.org/10.1007/s12098-012-0812-y

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  • DOI: https://doi.org/10.1007/s12098-012-0812-y

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