RESUMEN
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.
Asunto(s)
Artrogriposis/complicaciones , Cisterna Magna/anomalías , Neoplasias Renales/complicaciones , Síndrome de Mobius/complicaciones , Tumor de Wilms/complicaciones , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Artrogriposis/diagnóstico , Artrogriposis/genética , Encéfalo/patología , Cerebelo/anomalías , Cerebelo/patología , Cisterna Magna/patología , Consanguinidad , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Femenino , Humanos , Lactante , Riñón/patología , Neoplasias Renales/diagnóstico , Neoplasias Renales/genética , Imagen por Resonancia Magnética , Síndrome de Mobius/diagnóstico , Síndrome de Mobius/genética , Examen Neurológico , Tomografía Computarizada por Rayos X , Tumor de Wilms/diagnóstico , Tumor de Wilms/genéticaRESUMEN
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.
Asunto(s)
Craneosinostosis/diagnóstico , Mucolipidosis/diagnóstico , Anomalías Múltiples/diagnóstico , Craneosinostosis/cirugía , Craneotomía , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Mucolipidosis/genética , Tomografía Computarizada por Rayos XRESUMEN
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.