Rare Diseases Symptoms Automatic Extraction

Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.

[homocystinuria without methylmalonic aciduria]

Two adult brothers, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy, displayed severe but divergent neurological presentations. One exhibited a myelopathy and the other chronic endocrine problems (Schmidt's syndrome) followed by a neuropsychiatric and dementing disorder owing to cerebral perivascular demyelination. The recognition of cobalamin C deficiency has practical implications because it is one of the few inherited diseases of central white matter that is treatable.

Diseases presenting "myelopathy" symptom

  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • homocystinuria without methylmalonic aciduria
  • neuralgic amyotrophy
  • proteus syndrome
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • x-linked adrenoleukodystrophy

This symptom has already been validated