Oculocerebrorenal syndrome: case report with CT and MR correlates.
نویسندگان
چکیده
We report a detailed imaging investigation of the oculocerebrorenal syndrome (OCRS), or Lowe's syndrome. Our study includes the first detailed account of the cranial CT features, as well as the first MR imaging observations. A combination of soft-tissue and bony abnormalities may allow a specific radiographic separation of this disorder from other diseases causing the CT appearance of leukoencephalopathy. Also, the radiographic features cast new light on the neuropathologic basis of OCRS.
منابع مشابه
18F-FDG PET/CT findings in a possible MELAS syndrome: A case study
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA, presenting a wide range of clinical symptoms comprising headaches, seizures, aphasia, hearing loss, visual defects, and hemiparesis. Herein we report a case of a previously asymptomatic 40-year-old male who presented with recurrent headache, seiz...
متن کاملMR findings in oculocerebrorenal syndrome.
Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital ocular abnormalities, mental retardation, renal disease, and metabolic bone disease. We report a case of oculocerebrorenal syndrome and, using T1-, proton density-, and T2-weighted imaging sequences, are able to characterize two distinct white matter abnormalities: one lesion is punctate and has signal char...
متن کاملUnusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature
We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...
متن کاملAplastic anemia evolving to myelodysplastic syndrome and later to a lymphoproliferative malignancy in a treated case of carcinoma breast: A case report emphasizing the importance of PET-CT in cutaneous T cell lymphoma
Although aplastic anemia (AA) and myelodysplastic syndrome (MDS) are separate entities with different management, distinction between the two can be difficult on morphological basis due to hypocellularity of bone marrow. MDS is one of the serious complications of AA. Karyotyping is definitive in the diagnosis of MDS. Better and robust investigations like 18F-Fluoro-deoxy-Glucose Posi...
متن کاملGerstmann’s syndrome in non- dominant hemisphere: a case report
Gerstmann’s syndrome is caused by a left (dominant) inferior parietal lesion, particularly involving the angular gyrus or subjacent white matter of the left hemisphere. We describe case of an 80 year old right handed man admitted to our hospital with history of sudden onset of blurred vision. At first in neurological examination, he had left hemonymus hemianopia and characteristic features of G...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 8 3 شماره
صفحات -
تاریخ انتشار 1987