RESUMO
A 13-year-old girl with perinatally acquired HIV infection was admitted to us with acute onset, right-sided hemiparesis of 30 days duration and right-sided myoclonic jerks of 2 days duration affecting the face, upper and lower limbs. On examination, she exhibited increased tone and a pyramidal pattern of weakness in her right upper and lower limbs, along with spontaneous multifocal myoclonic jerks in the affected area. IgG levels in the serum and cerebrospinal fluid for measles were significantly elevated. Brain MRI depicted T2-weighted-hyperintensities in the subcortical white matter. The electroencephalogram demonstrated evidence of lateralised long interval periodic discharges. This patient had no past behavioural problems or poor academic performance. This case underlines the fact that, though subacute sclerosing panencephalitis (SSPE) is a chronic disease, a rare fulminant form of SSPE might develop acutely and atypically, with an increased proclivity for HIV-infected patients.
Assuntos
Infecções por HIV , Panencefalite Esclerosante Subaguda , Adolescente , Eletroencefalografia , Feminino , Infecções por HIV/complicações , Humanos , Neuroimagem , Paresia/etiologia , Panencefalite Esclerosante Subaguda/complicações , Panencefalite Esclerosante Subaguda/diagnósticoRESUMO
This 55-year-old man was admitted to the hospital with an insidious onset, progressive backward fall (due to severe truncal ataxia), dysarthria, stiffness in extremities, distal dominant muscle wasting along with behavioural changes and urinary incontinence. Clinical assessment indicated mild cognitive decline (Mini-Mental State Examination 22/27) with cerebellar, pyramidal and peripheral nerves involvement. On investigations, nerve conduction studies revealed symmetrical, sensorimotor peripheral neuropathy affecting both lower limbs. Brain and whole spine MRI revealed widespread cerebral and mild cerebellar atrophy, pons and medulla volume loss, and a normal spinal cord. Transthoracic echocardiography revealed concentric left ventricular hypertrophy. His gene analysis revealed eight GAA repeats on allele 1, and 37 GAA repeats on allele 2 in the first intron of the frataxin gene. Considering his clinical profile and genetic analysis, he was diagnosed as a case of very late-onset Friedreich's ataxia with likely compound heterozygous genotype.
Assuntos
Ataxia de Friedreich , Atrofia de Múltiplos Sistemas , Alelos , Cerebelo , Ataxia de Friedreich/diagnóstico , Ataxia de Friedreich/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A 52-year-old man presented to the outpatient department with breathlessness and generalised weakness since 2 months. He was found to have anaemia and thrombocytopenia. A complete haematological workup failed to point towards a definite aetiology. Bone marrow biopsy revealed fibrosis with predominantly collagen fibres. An elevated prostate-specific antigen level and CT scan of the abdomen and pelvis suggested prostate carcinoma, which prompted a transrectal ultrasound-guided biopsy, revealing a poorly differentiated adenocarcinoma of the prostate.