Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome has various presentations. We report on a case of MELAS in which alternate-sided homonymous hemianopia was the main symptom of recurrent neurological defects. A 19-year-old woman suffered from blurred vision, headaches, vomiting, and fever that subsided within days. The ophthalmic examination demonstrated right homonymous hemianopia. One month later a similar episode occurred again. Computed tomography (CT) and magnetic resonance imaging (MRI) of her brain revealed an infarct in the left temporo-occipital lobes. Exercise tests showed lactic acidosis, and a muscle biopsy confirmed the diagnosis of mitochondrial myopathy. Half a month later, a third episode occurred. Visual field examination demonstrated left homonymous hemianopia and partial recovery of the right visual field. The infarct in the brain, as revealed by CT and MRI, was compatible with the visual field changes. MELAS should be ruled out in young patients who present with homonymous hemianopia accompanied by recurrent headaches or other recurrent symptoms.
 ...
PMID:Alternate-sided homonymous hemianopia as the solitary presentation of mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes syndrome. 1279 Feb 25

We encountered an 11-year-old girl with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) who developed occipital lobe epilepsy at the age of 7 years and 4 months. Thereafter she had repeated status epilepticus associated with stroke-like episodes. Status epilepticus consisted of repetitive complex partial seizures with or without secondarily generalized tonic clonic seizures. The seizures did not respond to conventional anticonvulsive drugs, including diazepam, midazolam, phenytoin, lidocaine, chloral hydrate, and thiamylal sodium, and lasted for several hours (mean 9.5 hours). At the age of 11 years, intravenous infusion of L-arginine (0.5 g/kg body weight) was first given five hours after the onset of status epilepticus. The seizures and electroencephalographic abnormalities improved dramatically. After the introduction of L-arginine, in addition to shortened duration of status epilepticus (mean 3 hours), clinical recovery from the status epilepticus was prompt, and the average hospitalization periods could be shortened. There were no obvious adverse effects, including vomiting, hypotension, and urticaria. Our experience suggests that early intravenous administration of L-arginine may be useful in the treatment of status epilepticus associated with stroke-like episode in patients with MELAS.
 ...
PMID:[Usefulness of L-arginine infusion for status epilepticus in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes]. 1722 17

A 34-year-old man with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) showed chronic intestinal pseudo-obstruction (CIPO), which was improved by the administration of distigmine bromide. He exhibited generalized tonic clonic seizures at the age of 21, and mitochondrial DNA analysis showed the MELAS mutation. At the age of 34, he became akinetic mutism after nonconvulsive status epilepticus and needed enteral nutrition through a nasogasrtic tube. However, he developed abdominal distention and vomiting, and was diagnosed as CIPO, therefore tube feeding was stopped. Although the administration of domperidone, mosapride citrate, butyric acid bacteria, sodium picosulfate, prostaglandin F2 alpha, pantothenic acid, dioctyl sodium sulfosuccinate, and so on, was ineffective, the administration of distigmine bromide improved his bowel motion disturbance and abnormal distention. The present case is the first MELAS patient with CIPO to be ameliorated by distigmine bromide, which might work acetylcholine receptor on the interstitial cells of Cajal.
 ...
PMID:[Distigmine bromide improves chronic intestinal pseudo-obstruction in a case of MELAS]. 1751 Dec 91

We describe a patient in whom abdominal pain and vomiting were the presenting symptoms of Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-like episodes syndrome (MELAS). Mitochondrial disorders usually present with neurological symptoms or with myopathic features at any age. Although many patients develop visceral symptoms at a certain moment during the course of the disease, only in a minority of patients these symptoms are the unique presenting ones. The proband was initially diagnosed as having gastro-oesophageal reflux and it was only after detailed clinical history that an underlying metabolic defect was suspected and the molecular defect identified.
 ...
PMID:Abdominal pain and vomiting as first sign of mitochondrial disease. 1990 74

This report presents a case of massive mucosal necrosis of the small intestine in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), which particularly affects the brain, nervous system and muscles. A 45-year-old Japanese female, with an established diagnosis of MELAS, presented with vomiting. Computed tomography showed portomesenteric venous gas and pneumatosis intestinalis. She underwent a resection of the small intestine. A microscopic study showed necrosis of the mucosa and vacuolar degeneration of smooth muscle cells in the arterial wall. Immunohistochemistry showed anti-mitochondrial antibody to be highly expressed in the crypts adjacent the necrotic mucosa. The microscopic and immunohistochemical findings suggested the presence of a large number of abnormal mitochondria in MELAS to be closely linked to mucosal necrosis of the small intestine.
 ...
PMID:Mucosal necrosis of the small intestine in myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome. 2313 18

No association between mitochondrial disease and pancreatitis has yet been established, although diabetes mellitus and diseases caused by exocrine insufficiency, such as Pearson syndrome, are the commonest pancreatic complications of mitochondrial diseases. Here, we report 2 cases of mitochondrial disease complicated by pancreatitis as an unusual pancreatic exocrine manifestation. One patient was a 10-year-old girl with mild retardation of psychomotor development who had experienced recurrent pancreatitis since the age of 4years. Chronic progressive external ophthalmoplegia (CPEO) due to m.8344A>G mutation was diagnosed when the patient was 10years old. The other patient was a 28-year-old woman who was diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to m.3243A>G mutation at 10years of age. She had experienced regular recurrent vomiting since the age of 16 and suffered an episode of critical pancreatitis at 23years. In both cases, no possible etiological, morphological, or genetic factors for pancreatitis were identified, including anomalous pancreaticobiliary duct. A combination therapy of the standard treatment for chronic pancreatitis and supportive therapy for mitochondrial energy production may be beneficial to prevent the recurrence of acute pancreatitis complicating mitochondrial diseases. The pathophysiological mechanism of pancreatitis in mitochondrial disease has not been adequately established; however, our observations suggest that pancreatitis should be included in the list of pancreatic complications of mitochondrial disease.
...
PMID:Unusual exocrine complication of pancreatitis in mitochondrial disease. 2318 49

A 14-year-old girl was referred to us with severe migraine-like headaches associated with vomiting and right homonymous hemianopsia. On admission, MRI examination showed high signals in the left occipital cortex and subcortex on T2-weighted images, without reduction of apparent diffusion coefficient suggestive of cerebral infarction. Her EEG demonstrated periodic sharp waves in the left posterior region, and laboratory tests revealed she had increased levels of lactic and pyruvic acid both in blood plasma and CSF. Gene analysis confirmed mitochondrial DNA A3243G mutation. Based on this data, we diagnosed her as having mitochondrial myopathy, encephalopathy, lactic acidosis and a stroke-like episode (MELAS). L-arginine infusion was unsuccessful for her severe headaches, which remained prolonged. She received a low dose (0.05 mg/kg/h) midazolam infusion, resulting in immediate improvement and the disappearance of headaches and abnormal EEG findings. By the age of 18, she had been readmitted eight times for stroke-like episodes accompanied by headaches. While L-arginine infusions alleviated her headaches when administered on day 1 of her episodes, they were not effective when started on or after day 2. Her L-arginine-resistant headaches were relieved by midazolam. Although the pathogenesis of headaches in MELAS is still unknown, neuronal hyperexcitability and trigeminovascular activation are considered important. Midazolam may play a role in suppressing neuronal hyperexcitability and trigeminovascular activation. Treatment with midazolam is advisable for headaches in patients with MELAS, in the event that L-arginine therapy is unsuccessful.
...
PMID:[Effectiveness of midazolam for L-arginine-resistant headaches during stroke-like episodes in MELAS: a case report]. 2542 May 61

A 25-year-old Canadian male with a history of 3-methylglutaconyl-coenzyme-A hydratase deficiency, also known as 3-methylglutaconic aciduria type I, a very rare inborn error of metabolism, presented with respiratory distress, nausea, vomiting and signs of multisystem organ failure due to a suspected underlying infectious process. An electrocardiogram revealed bilateral atrial enlargement and an elevated brain natriuretic peptide on the initial laboratory studies, which prompted a more thorough cardiac workup. The transthoracic echocardiogram revealed a dilated cardiomyopathy with severe systolic dysfunction. The deficient enzyme present in this patient is involved in the pathway of leucine catabolism and is particularly important in various tissues for energy production and sterol synthesis. The dilated cardiomyopathy in this patient possibly had a variety of potential mechanisms including: a mitochondrial myopathy due to the deficiency of this enzyme leading to a defect in energy production inside cardiac myocytes; or a direct toxicity from 3-methylglutaconic acid (3-MGA) and its toxic metabolites; or a cardiac dysfunction due to a variety of other potential mechanisms. In conclusion, this patient's clinical presentation suggested that 3-methylglutaconyl-CoA hydratase deficiency could cause a severe dilated cardiomyopathy and heart failure.
 ...
PMID:3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy. 2834 15

We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at adolescence. They all presented with gastrointestinal symptoms at an advanced clinical stage. They were diagnosed with chronic intestinal pseudo-obstruction, and they were resistant to therapy. The mother and her youngest daughter died from aspiration pneumonia because of vomiting. The determination of chronic intestinal pseudo-obstruction is an important prognostic factor in patients with the mitochondrial DNA A3243G variant.
 ...
PMID:Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation. 2915 41

MELAS-syndrome (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with various presentations. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures, muscle weakness, recurrent headaches and vomiting, hearing impairment, and short stature. Uncommon clinical presentations like cerebral venous thrombosis, which is almost unprecedented for MELAS-syndrome, impede correct diagnosis. We describe a novel presentation of MELAS-syndrome with severe cerebral venous thrombosis (CVT) and inflammation with a vasculopathy that affects the venous system as well. This case does not only extend the clinical spectrum of a multifaceted disease, but offers new clues for the pathomechanism of MELAS-syndrome.
 ...
PMID:Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease. 3134 44


<< Previous 1 2