Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a 45-year-old woman with pheochromocytoma, who presented with severe abdominal pain and headache, diabetes mellitus, lactic acidosis and pulmonary edema, is described and discussed. Spleen infarction, not so far described as an ischemic complication of pheochromocytoma, was seen in computer tomography. After medical pretreatment with labetalol, a pheochromocytoma (2 x 2 cm) of the left adrenal gland was removed. The postoperative course was uneventful.
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PMID:[Splenic infarct, lactate acidosis, and pulmonary edema as manifestations of a pheochromocytoma]. 915 31

The therapeutic efficacy of a regimen consisting of intravenous injection of Cardiocrome, containing cytochrome c, flavin mononucleotide and thiamine diphosphate for mitochondrial encephalomyopathy (MEM) was examined. This combined therapy was applied to nine patients with MEM, including four with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. For the standard regimen, Cardiocrome was first injected daily, usually for 4 weeks, and later by means of intermittent injections for maintenance treatment. Clinical improvement was obtained in eight of the patients. Improvement was observed in the muscle symptoms of easy fatigability, motor disability and severity of stroke-like episodes, as well as in various other symptoms such as phosphate, tinnitus, headache, corneal edema, chilblains, thalamic pain, respiratory failure, and nystagmus. This clinical improvement was maintained for more than 1 year by additional intermittent injections. In conclusion, this therapy was fairly effective for the management of patients with MEM.
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PMID:Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. 918 76

Diabetes mellitus associated with mitochondrial tRNA mutation at position 3243(DM-Mt3243) is a new disease. Patients have a distinctly different picture from MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). During observations at the Saiseikai Central Hospital, the following findings were noted in DM-Mt3243 patients: DM-Mt3243 patients are diagnosed earlier with diabetes, compared to NIDDM (non-insulin dependent diabetes mellitus) controls without family history. DM-Mt3243 patients often need insulin more often than NIDDM controls without family history. Post-treatment neuropathy and insulin edema are often found in DM-Mt3243, and the two phenomena possibly have a similar pathophysiology related to mitochondrial dysfunction. Ambiguous psychiatric disorders of functional psychosis are observed frequently in DM-Mt3243. Mild headache is common in DM-Mt3243 cases. Ambiguous neuromuscular abnormalities such as sleep disturbance, paresthesia of the legs, edema of the legs, and palpitation may be symptoms associated with mitochondrial dysfunction in DM-Mt3243. Coenzyme Q may be effective in the relief of these neuromuscular symptoms.
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PMID:Diabetes mellitus associated with 3243 mitochondrial tRNA(Leu(UUR)) mutation: clinical features and coenzyme Q10 treatment. 926 20

Myoclonic seizures, intractable abdominal pain, and headaches resolved during the concomitant administration of sodium dichloroacetate and vita min B1 in two Japanese siblings with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike syndrome).
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PMID:Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome. 932 26

A case of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) which presented as migraine complicated by stroke is reported. Strokes associated with migraine have often been reported, but the mechanism remains unclear and may include a variety of pathologies. MELAS also presents with migrainous headache, vomiting, and stroke-like symptoms. Magnetic resonance imaging demonstrates characteristic findings. MELAS should be considered in the differential diagnosis of infarct-like lesions with migrainous headaches in young adults, especially if the symptoms fluctuate and are accompanied by a homonymous hemianopia.
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PMID:MELAS presenting as migraine complicated by stroke: case report. 940 3

We present the clinical and laboratory effects of dichloroacetate (DCA) in three children with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) who had not responded to other medications. Administration of DCA lowered the elevated levels of lactate and pyruvate in the serum and CSF. DCA ameliorated abdominal pain, headache, and strokelike episodes, and improved cognitive function and fatigability in the three patients during the study period. Some transient liver dysfunction, hypocalcemia, and peripheral neuropathy were observed. The use of DCA in MELAS merits further study.
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PMID:Effects of dichloroacetate in three patients with MELAS. 948 92

Epilepsia partialis continua (EPC) is a rare epileptic syndrome characterized by continuous focal seizures. We report on a 16-year-old girl who died of prolonged pharmacoresistant EPC in whom we identified a 7472insC mutation within the mitochondrial transfer ribonucleic acid (tRNA)(ser(UCN)). Additional symptoms included ataxia, lactic acidosis, myopathy, sensorineural hearing loss, severe headaches, and mental retardation. Quantification revealed 100% mutant mitochondrial DNA (mtDNA) in the patient, 4% in her mother, and none in her half-sister. This highly skewed mtDNA distribution is most improbable (approximately 3 x 10(-30)) if only explained by random genetic drift. Clustering of dysfunctional mitochondria and replicatory advantage of mutant mtDNA may play a role in the rapid segregation towards homoplasmy within one generation.
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PMID:Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation. 977 73

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is an uncommon neuromuscular disorder caused by mitochondrial dysfunctions that result in headaches, seizures, and progressive dementia. The authors describe a clinical case study of gastrointestinal manifestations in a pedigree with MELAS, in which all three children, ages 11, 8, and 6, demonstrated acute onset of intestinal obstruction. They unexpectedly showed severe abdominal distension and vomiting. Their parents had no clinical manifestation. The first female sibling underwent an emergent laparotomy because she was diagnosed to have intestinal strangulation. She had postoperative complications caused by progressive lactic acidosis and died the next day. The second and third sisters had similar onsets of the disease and were treated with gastrointestinal decompression and intravenous administration of lactate-free fluid and coenzyme Q10. Genetic testing using blood samples showed an A-to-G point mutation at nucleotide position 3243 in the tRNALeu(UUR) region in the mitochondrial DNA. In MELAS children who demonstrate acute onset of gastrointestinal manifestations, a careful review of family history and an elevation of serum lactate and pyruvate levels may enable a differential diagnosis to be made of acute abdomen to avoid unnecessary surgical intervention.
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PMID:Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). 986 67

To clarify the electroencephalographic characteristics of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), the medical records and electroencephalograms of six patients with MELAS and two of their relatives with MELA (mitochondrial myopathy, encephalopathy, and lactic acidosis, without strokelike episodes) were retrospectively reviewed. All have a point mutation in the mitochondrial DNA at nucleotide position 3243. The electroencephalograms (n = 79) were divided into four groups according to the time relation to the strokelike episode: (1) before the first strokelike episode, (2) within 5 days after the strokelike episode (acute stage), (3) between 6 days and 1 month after the strokelike episode (subacute stage), and (4) more than 1 month after the strokelike episode (chronic stage). In the acute stage, 10 of the 11 electroencephalograms (9 strokelike episodes in four patients) revealed focal high-voltage delta waves with polyspikes (FHDPS), which were recognized as ictal electroencephalogram. Ictal events during FHDPS included focal clonic or myoclonic seizure and migrainous headache. In the subacute and chronic stages, focal spikes or sharp waves and 14- and 6-Hz positive bursts were frequently recorded. The authors' results suggest that FHDPSs present a reliable and accurate indicator of a strokelike episode in patients with MELAS.
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PMID:Serial electroencephalographic findings in patients with MELAS. 1002 59

Accumulation of D-lactate after gastrointestinal surgery, particularly jejuno-ileal bypass, is an uncommon and often misdiagnosed clinical disturbance. The syndrome may be complicated by dizziness, ataxia, confusion, headache, memory loss, and aggressive behavior. Serum chemistries are often deceptive because the anion gap is frequently normal in spite of severe metabolic acidosis. Moreover, the urine anion gap may be positive, incorrectly suggesting a defect in renal net acid excretion. Indeed, the combination of a normal anion gap metabolic acidosis and positive urine anion gap may erroneously suggest a diagnosis of renal tubular acidosis. Importantly, all reported cases of D-lactic acidosis secondary to bypass surgery have been encountered within 5 to 10 years following the surgery. Here we present an unusual case of D-lactic acidosis (complicated by encephalopathy) presenting 23 years after a jejuno-ileal bypass procedure. The patient was initially diagnosed with a drug intoxication secondary to benzodiazepines. Ultimately, the diagnosis of D-lactate encephalopathy was established after challenging the patient with a carbohydrate load. Thus, administration of 40 kcal/kg over 16 hours reproduced the clinical syndrome and was accompanied by a marked increment in serum and urine D-lactate concentration. The patient had sustained resolution of her symptoms after treatment with oral vancomycin.
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PMID:D-lactic acidosis 23 years after jejuno-ileal bypass. 1092 30


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