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Avoiding Misdiagnosis

Arch Neurol. 2003;60:893-894.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

A 51-YEAR-OLD man with a history of prominent muscle cramps and adult-onset diabetes mellitus was seen for slowly progressive muscle weakness and atrophy predominantly affecting the proximal shoulder girdle muscles. He had no bulbar symptoms, but tongue, facial, and, particularly, perioral fasciculations were prominent. He had modest sensory disturbances, and his tendon reflexes were markedly depressed, findings that were attributed to diabetes mellitus neuropathy. Careful family history assessment revealed numerous neurologically healthy relatives with diabetes mellitus but no family history of Kennedy disease or any similar phenotype.

The initial diagnosis was amyotrophic lateral sclerosis (ALS) with predominantly lower motor neuron involvement. However, clinical reassessment revealed gynecomastia (Figure 1). He had no testicular atrophy, and the development of his primary and secondary sexual characteristics was normal. He had a healthy 22-year-old son. Serum androgen and estrogen levels were within reference limits. Creatine kinase levels were 5 times the upper . . . [Full Text of this Article]

COMMENT

Konstantinos Paparounas, MD, PhD
Department of Internal Medicine
Hatzikosta General Hospital of Ioannina
Makrygianni Avenue
Ioannina 45001
Greece
(e-mail: kostpap@otenet.gr).

Anna Gotsi, MD
Köln, Germany

Maria Syrrou, PhD; Nikolaos Akritidis, MD
Ioannina