Macrocephaly with diffuse white matter changes simulating a leukodystrophy in Menkes disease.
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.
Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Puneet
P
Jain
Suvasini
S
Sharma
Naveen
N
Sankhyan
Rachna
R
Sehgal
Atin
A
Kumar
Madhulika
M
Kabra
Sheffali
S
Gulati
D001921:Brain / Q000473:pathology*; D006801:Humans; D007223:Infant; D056784:Leukoencephalopathies / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D058627:Megalencephaly / Q000473:pathology*; D007706:Menkes Kinky Hair Syndrome / Q000150:complications*