RESUMO
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also had non-communicating hydrocephalus with Chiari malformation. This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
Assuntos
Masculino , Recém-Nascido , Humanos , Síndrome , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Polimorfismo de Nucleotídeo Único/genética , Mutação , Coreia (Geográfico) , Predisposição Genética para Doença/genética , Análise Mutacional de DNA , Craniossinostoses/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Anormalidades Múltiplas/diagnósticoRESUMO
Optic neuritis refers to any inflammatory disorder of optic nerves, but it usually denotes an acute or subacute disease of optic nerves attributed to inflammation associated with demyelination. The diagnosis of optic neuritis is usually made on a clinical ground. The condition usually presents as a painful subacute unilateral loss of vision, which progresses over a few days to 2 weeks. The pain varies in severity, although it typically does not interfere with sleep. We report 2 cases of atypical optic neuritis rapidly recovered by the administration of high doses of steroid that presented with severe eyeball pain accompanied by vague visual loss and painlessly insidious onset of visual loss respectively, with normal findings in fundoscopic examinations, visual evoked potentials and orbital MRIs.