Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BACKGROUND--Acute dehydration with hypochloronatremic metabolic alkalosis is a classical complication of cystic fibrosis of the pancreas. Its progressive development as a revealing manifestation of the disease is rare as is its appearance in newborns. Case n. 1.--A 13 month-old girl was admitted because of status epilepticus. She was severely dehydrated (20% weight loss) but had normal diuresis. Investigations showed metabolic alkalosis, hypochloronatremia and hypokalemia. All the manifestations disappeared within 5 days with treatment but three sweat tests were abnormal. Case n. 2.--A 7 month-old girl was admitted because she suffered from progressive loss of weight (10%); she was dehydrated and had metabolic alkalosis plus hypochloronatremia, but her diuresis was normal. Two sweat tests were abnormal. Case n. 3.--A 4.5 month-old boy was admitted because he suffered from severe (12%) weight loss. His diuresis was normal despite dehydration; metabolic alkalosis and hypochloronatremia were found. Two subsequent sweat tests were abnormal. Case n. 4.--A 3 day-old girl was admitted suffering from meconium ileus. Two initial mechanism analysis for protein were abnormal. She had a cardiorespiratory arrest on the 13th day of life, when she had lost 14% of her birth weight; investigations showed metabolic alkalosis, hyponatremia (83 mEq/l), hypochloremia (45 mEq/l); kalemia was 5.9 mEq/l. Peritoneal dialysis was needed to correct hydroelectrolytic changes. A sweat test performed on the 26th day of life was also abnormal. Investigations performed during the periods of dehydration, and repeated later, showed transient functional kidney failure. None of the four patients had any respiratory or gastrointestinal clinical manifestations of cystic fibrosis. CONCLUSION--Metabolic alkalosis with hypochloronatremia plus progressive, severe dehydration in infants whose diuresis is paradoxically normal must be followed by examination for cystic fibrosis.
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PMID:[Cystic fibrosis revealed by dehydration with hypochloronatremic alkalosis in 3 infants and a neonate]. 808 18

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is most commonly associated with a mitochondrial DNA A to G point mutation at nucleotide 3243 (A3243G) and individuals with the disorder present a wide range of multisystemic symptoms. Seizures in MELAS patients are often intractable and require multiple antiepileptic drugs. Here we report a MELAS patient who presented with acute intestinal pseudo-obstruction following the administration of phenytoin (PHT) as an antiepileptic treatment. She presented with the first stroke-like episode at the age of 6 years and mitochondrial DNA analysis revealed A3243G with 94% mutation load in skeletal muscle. Despite treatment with phenobarbital and clobazam at the age of 16 years, she developed status epilepticus which ceased following PHT infusion. Thereafter, she was started on PHT treatment. One month later, however, she was readmitted because of remarkable abdominal distention. Although abdominal CT showed acute ileus with hepatic portal venous gas mimicking surgical emergency, the abdominal distention gradually recovered over several days following the discontinuation of PHT. Our clinical observations suggest the possibility that intestinal pseudo-obstruction in this patient related to PHT therapy. Careful clinical observation including gastrointestinal symptoms is required in the management of epilepsy in MELAS patients.
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PMID:Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy. 1822 64