School of Myology - Workshop - Class 2002

Case No. 11

Clinical Setting

Female child 5 yo. Neonatal hypotonia. Delayed motor milestones. Thin musculature.

Pathology

Microscopy

Cryostat sections demonstrate subsarcolemmal clustering of an eosinophilic material.

In the trichrome-stained sections they appear red,

High-power view, they are granular, with rod-like features.

These rod bodies are not detailed by oxidative, nor by ATPase techniques.

Proposed diagnosis

Congenital myopathy, nemaline (or rod body m.)

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