Monday, April 26, 2021

Menkes disease and Wilson's disease - DDx


Okay so maybe they are the two of the options for a patient's clinical scenario question and you have a blurred memory for which is which in context to copper metabolism?

Let's clear the basic facts here...

Menkes disease

pediatric presentation; severe enough to cause death early in life.

X-linked recessive

Defective Menkes protein ATP 7A gene, impaired Cu absorption and transport -> low copper levels.


- Neurologic deficits (growth retardation, intellectual disabilities, delayed milestones, etc)

- Risk of cerebral aneurysms

- Hypotonia, sagging facial features

- Seizures, tremors

- Brittle kinky hair

- joint deformities

* Occipital horn disease (rare, less severe form of Menkes syndrome; ATP 7A gene):

- bony exostosis at base of skull

- neurologic deficits (same as in Menkes disease) + cephalhematomas

- skeletal manifestations (coxa vera, genu valga, radial head dislocation, bowing of long bones)

Wilson's disease - (common and frequently asked)

- Autosomal recessive

Defect in liver Cu-transporting ATPase - ATP 7B gene, low serum ceruloplasmin -> high copper levels.

Patient is usually <40 years and may present with

- Hepatic failure, cirrhosis

- Fanconi's syndrome, ARF

- Kayser-Fleischer rings (corneal deposits)

- Parkinsonism

- Seizures

- psychosis

That's all

- Jaskunwar Singh

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