Assuntos
Encéfalo , Doenças Desmielinizantes , Linfo-Histiocitose Hemofagocítica , Humanos , Biópsia , Encéfalo/patologia , Encéfalo/diagnóstico por imagem , Doenças Desmielinizantes/diagnóstico por imagem , Doenças Desmielinizantes/patologia , Diagnóstico Diferencial , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/patologia , Linfo-Histiocitose Hemofagocítica/genética , Imageamento por Ressonância MagnéticaRESUMO
Mucopolysaccharidosis IIID (MPS IIID/Sanfilippo syndrome D, OMIM # 252940) is an autosomal recessive lysosomal storage disorder (LSD) and the rarest form of the mucopolysaccharidosis (MPS) III subtypes. It is caused by sequence variations in the gene encoding lysosomal enzyme N-acetyl glucosamine-6-sulphatase (GNS). Deficiency of GNS impairs catabolism of glycosaminoglycans causing accumulation of heparan sulphate within lysosomes of various tissues, which is visualized as membranous cytoplasmic bodies (MCBs) on electron microscopy. The recognition of this ultrastructural feature in a muscle biopsy instigated genetic evaluation for LSD in our case resulting in the detection of a novel pathogenic GNS gene variant. The patient also exhibited intellectual disability since childhood, reduced vision due to pigmentary retinopathy, and behavioral abnormalities without other systemic features of MPS. In this study, we report a patient of Indian origin with MPS IIID based on a novel pathogenic variant c.1078 G>T (p.G360C) in the GNS and the presence of MCBs in muscle biopsy, characterized by several novel findings including the occurrence of pigmentary retinopathy, which extends the clinical spectrum of MPS IIID.
Assuntos
Mucopolissacaridose III , Retinose Pigmentar , Humanos , Criança , Mucopolissacaridose III/genética , Mucopolissacaridose III/diagnóstico , Mucopolissacaridose III/patologia , Glicosaminoglicanos/metabolismo , Genômica , Reconhecimento PsicológicoRESUMO
The occurrence of longitudinally extensive transverse myelitis (LETM) in an elderly patient should evoke search for underlying systemic malignancy. Intramedullary spinal cord metastases and paraneoplastic myelopathy are the most common etiology for LETM in patients with systemic malignancy. The occurrence of LETM in association with renal cell carcinoma with aquaporin-4 (AQP4) antibody positivity has not been reported. We report an elderly woman who presented with acute paraplegia and was diagnosed as having LETM with AQP4 positivity and renal cell carcinoma.
Assuntos
Aquaporina 4/imunologia , Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Mielite Transversa/diagnóstico , Paraplegia/diagnóstico , Idoso , Carcinoma de Células Renais/complicações , Feminino , Humanos , Neoplasias Renais/complicações , Mielite Transversa/etiologia , Mielite Transversa/imunologia , Paraplegia/etiologiaRESUMO
Neurocysticercosis is an infection of the central nervous system caused by the larval form of the pork tapeworm Taenia solium. In the brain it occurs in two forms: parenchymal and extraparenchymal or racemose cysts. The clinical presentation of racemose cysts is pleomorphic, and is quite different from parenchymal cysticercosis. The clinical diagnosis of racemose cysts is quite challenging, with neuroimaging being the mainstay. However, the advent of newer brain imaging modalities has made a more accurate diagnosis possible. The primary focus of this article is racemose neurocysticercosis and its multitude manifestations, and includes a discussion of the newer diagnostic modalities and treatment options.