ICNC Abstracts, ICNC 2018

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An unusual presentation of Menkes disease masquerading as a leukodystrophy with macrocephaly
Aswini Annadurai, Anshula Tayal, Aman Elwadhi, Suvasini Sharma, Bijoy Patra

Last modified: 2018-09-09


Introduction: Menkes disease is an X-linked neurodegenerative disease caused by mutation in ATP 7A gene which codes for a copper-transporting P-type ATPase. It usually presents in early months of life with neuro-regression, hypotonia, seizures and kinky friable hair. Magnetic resonance imaging (MRI) brain classically shows progressive cerebral atrophy, subdural effusions and tortuous cerebral blood vessels.

Methods: clinical examination followed by MRI and serum ceruloplasmin and serum copper.

Case description: We report the case of a 7-month-old boy who presented with global developmental delay, seizures, increasing head size since 2 months of age and history of sibling death. On examination, the child had macrocephaly; short, sparse hypopigmented hair with seborrheic dermatitis of the scalp. He had impaired interaction with the surroundings, hypotonia and brisk reflexes. MRI brain showed white matter changes suggestive of megalencephalic leukodystrophy. A careful re-examination of the films revealed tortuous blood vessels. Serum copper and ceruloplasmin levels were significantly reduced.

Results: Menkes disease was diagnosed on the basis of clinical presentation, tortuous blood vessels on MRI and reduced serum copper and ceruloplasmin levels.

Conclusion: This case exemplifies a rare presentation of Menkes disease, simulating a leukodystrophy with macrocephaly. Tortuosity of cerebral blood vessels is an important finding which can help in differentiating Menkes disease from white matter disorders.




menkes disease; leukodystrophy; macrocephaly

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