RESUMO
Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interesting because she developed Wilms' tumor at 21 months of age. To our knowledge, this is the first case of this association reported in the literature.
Assuntos
Artrogripose/complicações , Cisterna Magna/anormalidades , Neoplasias Renais/complicações , Síndrome de Möbius/complicações , Tumor de Wilms/complicações , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Artrogripose/diagnóstico , Artrogripose/genética , Encéfalo/patologia , Cerebelo/anormalidades , Cerebelo/patologia , Cisterna Magna/patologia , Consanguinidade , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Lactente , Rim/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Imageamento por Ressonância Magnética , Síndrome de Möbius/diagnóstico , Síndrome de Möbius/genética , Exame Neurológico , Tomografia Computadorizada por Raios X , Tumor de Wilms/diagnóstico , Tumor de Wilms/genéticaRESUMO
CASE REPORT: In this paper, a patient with mucolipidosis II (I-cell disease) is described. The initial findings were microcephaly and metopic craniosynostosis. He had coarse facial features and dysostosis multiplex. The first child in his family had died with severe bone pathology at 5 months of age. CONCLUSION: The case is presented to emphasize that craniosynostosis may be the first symptom in mucolipidosis II.
Assuntos
Craniossinostoses/diagnóstico , Mucolipidoses/diagnóstico , Anormalidades Múltiplas/diagnóstico , Craniossinostoses/cirurgia , Craniotomia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Mucolipidoses/genética , Tomografia Computadorizada por Raios XRESUMO
Hypertension is one of the rare causes of peripheral facial paralysis in children. The unawareness of this association at presentation may cause serious medical errors and result in delays in the diagnosis of hypertension, which may worsen with corticosteroid therapy given for Bell's palsy. We describe a severely hypertensive child who was first seen with peripheral facial paralysis and given corticosteroid therapy in another hospital. She presented to our clinic during the second facial paralysis attack with hypertensive pontine hemorrhage.
