Misdiagnosis in Fabry disease.

Objective: To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis.

Study Design: We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females. We interviewed the patients, their mothers, or both regarding symptoms, age at onset, medical consultations, and recommended treatments.

Multifocal motor neuropathy, type 1 diabetes and asymptomatic Hashimoto's thyroiditis: an unusual association.

Immune mediated mechanisms play a role in some forms of diabetic neuropathies. We studied a 17-year-old man who developed asymmetric weakness and atrophy in both upper arms soon after the diagnosis of type 1 diabetes. Nerve conduction studies demonstrated multifocal motor conduction blocks, and serological investigations revealed subclinical Hashimoto's thyroiditis.