Menkes disease
Presentation:
History of seizures with global developmental delay, clinical features of Menkes disease present, low serum copper levels.
Patient Data:
- there is significant cerebral and cerebellar atrophy
- dysmyelination of frontal white matter is seen.
- tortuous intracranial vessels are noted with acute bilateral infarcts in centrum semiovale
Case Discussion:
Menkes disease or "kinky hair syndrome" is an X linked disorder, gene located on Xq13.3.
The abnormality is a defect of transmembrane transport of copper resulting in increased copper deposition in intestine and pancreas, with copper deficiency in the brain. The serum copper level is low, but measurement should be made after 2 months of life as copper levels only reach adult levels after that age. The hair shows corkscrew shaft called "pili torti" or "twisted hairs".
A paradox of the disease is that copper is high in cytosol of cells but cannot be delivered to mitochondria. As a result oral or IV copper therapy is ineffective. Diffuse cerebral and cerebellar atrophy is seen, with myelination disorder in the form of delayed or demyelination.
Intracranial vessels are elongated and tortuous, as seen on conventional images but better seen on MRA. Ischaemic strokes are a known complication.
Related articles:
References:
- Pediatric Neuroradiology: Head and neck, spine - By Paolo Tortori-Donati, Andrea Rossi (MD.), Roberta Biancheri
- Congenital Diseases and Syndromes: An Illustrated Radiological Guide, by Jarrah Ali Al-Tubaikh, Maximilian F. Reise
- Pediatric Neurology: A Case-Based Review - by Tena Rosser
Details successfully updated.
Unable to process the form. Check for errors and try again.
