Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of the study was to estimate the preponderance of patterns of pediatric stroke, ischemic or hemorrhagic, their etiologies and the correct diagnostic protocol for acute management. Forty-one consecutive pediatric patients (age range 5-16 years) with an acute stroke observed in acute phase during a 10-year period, were retrospectively evaluated. Twenty-three patients underwent magnetic resonance imaging (MRI), 3 cases were studied by computed tomography (CT) without MRI, and 15 underwent both CT and MRI studies. In 9 cases, intra-arterial digital subtraction angiography (IADSA) was performed after non-invasive preliminary assessment. Seventeen hemorrhagic (41%) and 24 ischemic (59%) strokes were found. Among hemorrhagic forms, 5 cases were due to arteriovenous malformation (AVM), 7 to cavernoma, and 2 to aneurysm. Among ischemic forms, 2 were due to sickle-cell disease, 1 to hyperomocysteinemia, 1 to moyamoya syndrome, 1 to pseudoxantoma elasticum, 3 to prothrombotic state, 1 to Fabry's disease, 1 concomitant with CO intoxication, 5 to venous sinus thrombosis, and 4 to cardio-embolic state. Etiology remains unknown in 8 cases (20.5%). This study shows a moderate prevalence of ischemic over hemorrhagic strokes. Moreover, personal experience suggests that MRI is always more informative than CT and in selected cases should be the first-choice examination in the acute phase.
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PMID:Radiological strategy in acute stroke in children. 1921 43

Fabry disease is an X-linked inborn error of metabolism, which is caused by the deficiency of α-galactosidase A, leading to progressive accumulation of neutral glycosphingolipids and a-galactosyl breakdown products in most body fluids and several tissues, resulting in the clinical manifestations. The onset of Fabry disease symptoms in females is not observed as early as in males. We report a novel presentation of Fabry disease in a female patient with medical history of relapsing strokes and brain magnetic resonance angiography showing signs of microangiopathy and multiple lacunar strokes that were first diagnosed as Moyamoya disease (a chronic progressive cerebrovascular disease). The patient subsequently displayed increased levels of serum creatinine and proteinuria. Diagnosis of Fabry disease was made by a renal biopsy and was confirmed by molecular studies showing a missense mutation: c1066C > T (het) [R356W]. The diagnosis was delayed by 21 years with respect to her first symptom (stroke), probably because her initial clinical presentation was neurological and diagnosed as Moyamoya disease. Other factors that contributed to the delay of the diagnosis were the lack of acute or chronic pain (neuropathic pain) and angiokeratomas. Some similarities in the pathogenic aspects of the patient's vascular lesions lead us to speculate that this patient has Fabry disease, with a phenotype that had not yet been described. It is necessary to be aware of this possibility to avoid misdiagnosis of Fabry disease as Moyamoya disease.
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PMID:What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease. 2353 85

Neurovascular diseases are among the leading causes of mortality and permanent disability due to stroke, aneurysm, and other cardiovascular complications. Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and Marfan syndrome are two neurovascular disorders that affect smooth muscle cells through accumulation of granule and osmiophilic materials and defective elastic fiber formations respectively. Moyamoya disease, hereditary hemorrhagic telangiectasia (HHT), microcephalic osteodysplastic primordial dwarfism type II (MOPD II), and Fabry's disease are disorders that affect the endothelium cells of blood vessels through occlusion or abnormal development. While much research has been done on mapping out mutations in these diseases, the exact mechanisms are still largely unknown. This paper briefly introduces the pathogenesis, genetics, clinical symptoms, and current methods of treatment of the diseases in the hope that it can help us better understand the mechanism of these diseases and work on ways to develop better diagnosis and treatment.
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PMID:Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle. 2589 82