pubmed:abstractText |
The patient is a girl who had amyotrophia, dyspnea and juxta-articular nodes. She died at the age of 14 months. Ultrastructural examination of a sural nerve biopsy revealed anormal inclusions in the cytoplasm of numerous myelinated fibres. They are round or oval, and empty, sometimes with a great diameter. Some histiocytes show also such bodies. These are different from those seen in the other neurolipidosis.
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