Möbius syndrome undoubtedly results from a variety of disorders affecting central or peripheral portions of appropriate cranial nerves or their target muscles. Pathological alterations observed in cranial nuclei are most often viewed as aplastic or dysplastic lesions. Two patients with Möbius syndrome with associated facial and skeletal malformations showed mineralized necrotic foci in multiple brain stem nuclei. Prenatal encephalomalacic lesions represent the pathological basis for some cases of congenital static Möbius syndrome.
Infantile thalamic degeneration is a rare clinico-pathological entity. Restricted location of the lesion and peculiar cytopathological changes serve to distinguish this disorder from other common encephalopathies. Optical and ultrastructural studies demonstrate cytoplasmic calcopherules in previously viable cells. According to current concepts of acute cellular reactions to injury and mechanism of intracellular calcification, the cytological changes cannot be attributed to either hypoxic ischemic cell change or dystrophic calcification. By analogy to other human and pathological material, the most likely basis for nondystrophic calcopherule formation is toxic or infectious injury with local synthesis, or autophagic or phagolysosomal degradation of cellular debris of specific chemical composition favoring calcium deposition.
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