This physical finding was first noticed when a patient was 10. He had early complaints of frequently sprained ankles and difficulty running and keeping up with peers. He was always clumsy when walking but is still able to ambulate. Recently, he's noticed atrophy of the hand muscles too. There is a family history of this disease following an autosomal dominant pattern. The life expectancy of affected individuals is normal. On exam, you note loss of proprioception and vibration in the lower extremities.Challenge: What is your diagnosis? (Why is this case called "Dental"?)
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Good one :)...Charcot-Marie-TOOTH(dental???) syndrome
ReplyDeletecharcot-marie-tooth
ReplyDeleteCharcot Marie tooth disease.
ReplyDeletePeripheral neuropathy caused by genetic defects in the myelin sheaths.
Impressive!
ReplyDelete-
Dental
The title of the case refers to the disease Charcot-Marie-Tooth, also known as hereditary motor sensory neuropathy (HMSN). This spectrum of disorders involves a mutation in myelin and have a phenotype of peripheral neuropathy. Here, HMSN Type I is described. Distal calf muscle atrophy gives the classic “stork leg deformity.”
Sources: UpToDate; Wikipedia.