Assuntos
Encefalopatias/diagnóstico , Calcinose/diagnóstico , Fenótipo , Feminino , Humanos , MasculinoRESUMO
OBJECTIVE: To detail the radiologic findings in Möbius syndrome, in order to clarify its pathogenetic mechanisms. METHODS: High resolution three-dimensional T1 (MP rage) and T2 (CISS) weighted MRI were used to study the cisternal and canalicular portion of the seventh cranial nerve in six Möbius patients. Also, the anteroposterior dimension of the brainstem was measured at the level of the pons in the authors' 6 patients and in 20 age-matched healthy control subjects. Furthermore, the MRIs were evaluated for associated congenital brain anomalies. RESULTS: The facial nerves were absent in all six patients despite residual function in some facial muscles. The authors confirmed brainstem hypoplasia but did not find tegmental calcifications. The anteroposterior dimension of the brainstem ranged between 17 and 25 mm vs 20 to 27 mm for controls. In three patients there were congenital abnormalities in the posterior fossa. CONCLUSION: The absent facial nerves on MRI and the unusual distribution of the facial weakness, which is characteristic of Möbius syndrome, suggests that other cranial nerves, possibly the trigeminal, hypoglossal, or glossopharyngeal nerve, aberrantly innervate some lower facial muscles. Radiologic findings support the notion that Möbius syndrome is part of a more complex congenital anomaly of the fossa posterior.
Assuntos
Tronco Encefálico/anormalidades , Nervo Facial/anormalidades , Síndrome de Möbius/patologia , Malformações do Sistema Nervoso/patologia , Adulto , Criança , Nervos Cranianos/anormalidades , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/patologia , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/patologia , Deficiências do Desenvolvimento/fisiopatologia , Músculos Faciais/inervação , Músculos Faciais/patologia , Músculos Faciais/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Síndrome de Möbius/fisiopatologia , Debilidade Muscular/etiologia , Debilidade Muscular/fisiopatologia , Malformações do Sistema Nervoso/fisiopatologia , Plasticidade Neuronal/fisiologia , Transtornos da Motilidade Ocular/etiologia , Transtornos da Motilidade Ocular/fisiopatologia , Coluna Vertebral/anormalidades , Língua/inervação , Língua/fisiopatologia , Doenças da Língua/etiologia , Doenças da Língua/fisiopatologiaRESUMO
We present a patient with posttraumatic tremor who did not show any [(123)I]FP-CIT uptake in the contralateral putamen and caudate. The absence of hypokinesia and rigidity is surprising in the presence of a striatal dopaminergic denervation that is even more severe than in Parkinson's disease. An explanation, therefore, could be that the lesion in the subthalamic nucleus in our patient prevented the onset of a Parkinson syndrome.