32 documents found, page 1 of 4

Growth hormone-releasing hormone-secreting pulmonary neuroendocrine tumor assoc...

SUMMARY Acromegaly caused by ectopic growth hormone-releasing hormone (GHRH)-secreting tumor is exceedingly rare. We report a case of acromegaly secondary to GHRH secretion by an incidentally diagnosed pulmonary neuroendocrine tumor (NET) and review 47 similar cases in literature. A 22-year-old male patient presented with symptoms of pituitary apoplexy. Magnetic resonance imaging (MRI) showed apoplexy of a pitu...

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

ABSTRACT Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients...

The role of biopsies and autopsies in the diagnosis of cognitive impairment, wi...

ABSTRACT. Acquired and hereditary microangiopathies cause cerebral small vessel diseases (CSVD) that impair cognition. The most frequent is primary angiitis of the CNS (PACNS), whose diagnosis remains challenging, requiring a multidisciplinary approach. Secondary vasculitis, CADASIL, miscellaneous microangiopathies and lymphomas, also cause cognitive impairment. Despite the fact that the need for biopsy has dec...

Cadasil - genetic and ultrastructural diagnosis: case report

ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent transient i...

The first Brazilian neuropsychiatrist, José Martins da Cruz Jobim, tuberculous ...

The intersection between infectious diseases, poverty and mental disease was an important subject to the Brazilian Neuropsychiatry in the early 19th century. José Martins da Cruz Jobim (1802–1878) was engaged in a hygienist approach based on symptomatological and anatomopathological studies. He wrote “Insânia loquaz” (Loquacious insanity), 1831, the first written text about mental illness in Brazil, founde...

Dysembryoplastic neuroepithelial tumor originally diagnosed as astrocytoma and ...

Dysembryoplastic neuroepithelial tumor (DNT), described in 1988 and introduced in the WHO classification in 1993, affects predominantly children or young adults causing intractable complex partial seizures. Since it is benign and treated with surgical resection, its recognition is important. It has similarities with low-grade gliomas and gangliogliomas, which may recur and become malignant. OBJECTIVES: To inves...

Diffusion-weighted MR images and pineoblastoma: diagnosis and follow-up

Pineoblastomas are uncommon pineal tumors, which demonstrate rapid growing and poor prognosis. We report the case of a 43-year-old man with an enhancing pineal region mass, which showed restriction of the diffusion on diffusion-weighted (DW) MR images. The surgical biopsy defined the diagnosis of pineoblastoma and the therapy was initiated with radiation and chemotherapy. Three months later, the follow-up MR im...

Inclusion body myositis and HIV infection

Prion diseases are under compulsory notification in Brazil: Surveillance of cas...

Abstract The emergence of the new variant of Creutzfeldt-Jakob disease (vCJD) in the United Kingdom has raised concerns over the risks of this prion disease in other parts of the world. Since 2005, human prion diseases have been under compulsory notification in Brazil. It is well known that some polymorphisms within the cellular prion gene (PRNP) have been associated to a higher susceptibility to sporadic CJD (...

Valor do exame citológico per-operatório em neurocirurgias

INTRODUÇÃO: Mais de 90% dos resultados citológicos per-operatórios neurocirúrgicos correlacionam-se com o histopatológico. Porém, a sua real necessidade é por vezes questionada. OBJETIVO: Avaliar a necessidade do exame per-operatório tendo-se em vista a conduta neurocirúrgica imediata. MATERIAL E MÉTODOS: Revimos 130 casos de exames per-operatórios solicitados de um total de 293 procedimentos cirúrgicos para tr...