Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twelve patients (9 women, 3 men, mean age 26.8 +/- 5.02 years) with spontaneous isolated dissection of posterior cerebral artery (PCA) were studied. Eleven patients (92%) developed ischemic stroke, 1 patient (8%)--transient ischemic attack (TIA). All patients underwent magnetic resonance imaging (MRI) of the head and magnetic resonance angiography (MRA): 9 patients--a follow-up MRA, 3 patients--a single study. Local neurological symptoms (hemianopia, hemianestesia) developed suddenly (75%) during everyday patient's activity (83%) and were combined with headache on the side of dissection in 75% of patients. The main provoked factor was alcohol (67%), 25% had preceding respiratory infection. The initial cerebral angiography carried out in most cases within the first month of stroke demonstrated the occlusion (33%) or stenosis (67%) of PCA. The repeat MRA carried out on 2-3 months or more showed the improvement or normalization of blood flow in PCA (89%). In 1 (11%) patient the occlusive process progressed that correlated with headache increasing. A single MRA carried out in 48 days--6 months (3 patients) found the prolonged irregular stenosis (1), occlusion at P2 segment (1) and normal PCA appearance (1). At the whole, the prolonged irregular stenosis at least in one study, was found in a half of patients. None of patients had atherosclerosis, vasculitis, arterial hypertension or thrombophilia. Clinical manifestations of connective tissue weakness were seen in 67% of patients, hypotonia--in 67%, headache in the past history--in 67% and mitral valve prolapse--in 75%. In conclusion, spontaneous isolated dissection of PCA is one of the causes of ischemic stroke in young adults. The diagnosis is based on characteristic clinical manifestations and follow-up MRA. The development of dissection appears to be connected with arterial wall weakness.
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PMID:[Ischemic stroke due to isolated spontaneous posterior cerebral artery dissection in young adults]. 1989 94

BACKGROUND The urea cycle converts amino acids to urea and is excreted by the kidneys. Ornithine carbamoyltransferase (OTC) deficiency is a rare X-linked urea cycle disorder which results in hyperammonemia. Diagnosis is made based on a clinical presentation of poor feeding, hypotonia, biochemical profile, and genetic testing. Another genetic cause for hyperammonemia is hyperammonia hyperinsulinemia (HAHI) syndrome. A mutation coding for glutamate dehydrogenase (GDH) results in increased alpha-keto glutarate and ATP, triggering the secretion of pancreatic insulin. However, unlike OTC deficiency, these patients are asymptomatic but do have symptoms of hypoglycemia. The purpose of this article is to present the case of a 66-year-old woman with an unusual late-onset of OTC deficiency compounded with an underlying HAHI syndrome with co-disease management. CASE REPORT A 66-year-old female with a history significant for transient ischemic attack (TIA) and urea cycle disorder was admitted for new adverse symptoms. Further evaluation revealed hyperammonemia and hypoglycemia. Despite standard previous treatment for her underlying urea cycle disorder, high ammonia levels and hypoglycemia persisted. The contradicting values with continued hypoglycemia regardless of dextrose treatment was suspicious for underlying HAHI. Further genetic testing during her admission revealed a deletion in GLUD-1 gene concurrent with diagnosis of HAHI. After co-diagnosis was established, effective management required medications for both disorders in concordance with dietary restriction. CONCLUSIONS This is an extremely rare case of OTC deficiency, with a vague presentation in an elderly female. Exploring compounding genetic disorders in the presence of one that is already established and early recognition are crucial for prompt diagnosis and management.
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PMID:Management of Ornithine Carbamoyltransferase Deficiency with Underlying Hyperammonia Hyperinsulinemia Syndrome. 3133 45