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[CNS involvement in neurofibromatosis. A postmortem study].

D Schreiber1, B Quade

  • 1Institut für Pathologische Anatomie, Medizinischen Akademie Erfurt, DDR.

Zentralblatt Fur Allgemeine Pathologie U. Pathologische Anatomie
|January 1, 1990
PubMed
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Neurofibromatosis, a genetic disorder, affects the nervous system and skin. This study found CNS involvement in 17 of 30 neurofibromatosis cases, highlighting its prevalence and varied manifestations.

Area of Science:

  • Neuropathology
  • Medical Genetics
  • Oncology

Context:

  • Neurofibromatosis is a group of genetic disorders characterized by tumor formation on nerve tissues.
  • Postmortem analysis provides crucial insights into the prevalence and pathological features of complex diseases.
  • Central Nervous System (CNS) involvement in neurofibromatosis requires detailed pathological examination.

Purpose:

  • To determine the prevalence and pathological characteristics of neurofibromatosis, with a focus on CNS involvement.
  • To document the types and locations of CNS lesions in neurofibromatosis cases.
  • To correlate clinical findings with genetic information, including chromosome abnormalities.

Summary:

  • A retrospective analysis of 30 postmortem cases (0.036%) revealed neurofibromatosis, including 13 of peripheral neurofibromatosis generalisata Recklinghausen (NgR) and 17 with CNS involvement.

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  • CNS lesions were primarily in periventricular areas and the cerebral aqueduct; diffuse gliosis was noted in 5 cases.
  • Specific findings included bilateral acoustic nerve neurofibromatosis (3 cases), spinal tumors (neurinoma, neurofibroma, meningioma), astrocytoma, leptomeningeal sarcomatosis, and skeletal abnormalities (4 cases).
  • Genetic analysis indicated NgR is linked to chromosome 17 lesions, while bilateral acoustic nerve neurofibromatosis is associated with chromosome 22 defects.

    • Impact:

    • This study provides a comprehensive pathological overview of neurofibromatosis, emphasizing the significance of CNS involvement.
    • Findings contribute to understanding the spectrum of neurofibromatosis manifestations and their genetic underpinnings.
    • Increased interest in CNS neurofibromatosis is driven by advances in diagnostic imaging (CT, MRI) and surgical treatment possibilities.