Abstract
A 37-year-old man was admitted to the hospital because of thirst, polyuria, body weight loss and general malaise associated with hyperglycemia (528 mg/dl) and high HbA1c level (12.8%) The neurological findings of drop-foot, steppage gait, muscle weakness and atrophy of the lower extremities, and diminished tendon reflex led to a diagnosis of Charcot-Marie-Tooth (CMT) disease type 1. The diagnosis was confirmed by delayed nerve conduction velocity, and the patient's family history that suggested autosomal dominance. Serum ketone body levels were increased, and serum and urine C-peptide levels were extremely decreased. The serological examination showed positive ICA and GAD antibody. The patient was diagnosed with insulin-dependent diabetes mellitus (IDDM) and was administered insulin, resulting in good glycemic control. The requirement for insulin decreased to 8 units per day but 6 months later was increased to 26 units per day. The association of CMT disease and IDDM in one patient is very rare, and there has been no reports that involve anti-GAD positive IDDM. A potential association between CMT disease and IDDM via a common mechanism is not yet known, but may become clearer following the recent characterisation of the molecular basis of CMT disease type 1.
