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[Polyglucosan body disease]
F Chrétien1, F Louarn, M C Lescs
1Département de Pathologie (Neuropathologie), Hôpital Henri-Mondor, Creteil.
Abstract:
A 78 year-old male presented with a bilateral pyramidal syndrome, urinary incontinence and mild intellectual slowing. He died seven months after onset of the neurological signs from cerebral infarct and heart failure. Neuropathological examination showed predominant involvement of the cerebral white matter including diffuse myelin pallor, astrocytic gliosis and small necrotic foci. Polyglucosan bodies were diffuse in the cerebral cortex, white matter, brainstem, cerebellum and proximal part of the cranial nerves. In these latter, some polyglucosan bodies were found within myelinated axons but the inclusions mostly involved astrocytic processes. This case is characteristic of the polyglucosan body disease. It is compared with the autopsy and biopsy cases previously reported in the literature.
Insights
This study details a case of polyglucosan body disease, a rare neurological disorder. The autopsy revealed widespread polyglucosan bodies in the brain, primarily affecting white matter and astrocytes.
Area of Science:
- Neuropathology
- Neurodegenerative Diseases
- White Matter Disorders
Background:
- Polyglucosan body disease is a rare metabolic disorder characterized by the accumulation of abnormal glycogen polymers.
- It typically presents with progressive neurological deficits, including cognitive impairment, motor disturbances, and autonomic dysfunction.
- This case highlights the neuropathological features of the disease in an elderly male.
Observation:
- The patient presented with bilateral pyramidal syndrome, urinary incontinence, and mild intellectual slowing.
- Neuropathological examination revealed diffuse myelin pallor, astrocytic gliosis, and small necrotic foci in the cerebral white matter.
- Polyglucosan bodies were extensively found throughout the central nervous system and cranial nerves, predominantly within astrocytic processes.
Findings:
- The autopsy findings were characteristic of polyglucosan body disease.
- The distribution and morphology of polyglucosan bodies in this case align with previous literature reports.
- The involvement of cranial nerves and white matter underscores the widespread nature of the pathology.
Implications:
- This case contributes to the understanding of the neuropathological spectrum of polyglucosan body disease.
- Further research into the pathogenesis and potential therapeutic targets for polyglucosan body disease is warranted.
- Comparing this autopsy case with prior biopsy and autopsy studies aids in defining the disease's characteristics.