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)

Even though acute poisonings with benzodiazepines are extremely common, less is known of the clinical toxicity of recent derivatives, particularly in children. 1,989 cases involving ethyle loflazepate, flunitrazepam, prazepam or triazolam recorded at the Lyons Poison Center and due to 1 compound and associated with clinical symptoms were selected for study. Children less than 16-y of age accounted for 482 cases. Sleepiness, agitation and ataxia were significantly more frequent in the children. Hypotonia was seldom observed but was indicative of severe poisoning. The dangerous toxic dose of these compounds in children is suggested to be 0.78-0.90 mg ethyle loflazepate/kg, 0.26-0.29 mg flunitrazepam/kg, 7.80-9.00 mg prazepam/kg and 0.06-0.07 mg triazolam/kg. These results are in keeping with the relatively low acute toxicity of the older benzodiazepines.
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PMID:Acute poisonings with ethyle loflazepate, flunitrazepam, prazepam and triazolam in children. 135 7

P, an Indonesian boy, 5 years old, 15 kg of body weight and 110 cm of body length, was admitted to the PTP IX Hospital on March 30, 1987 with cerebral palsy. The patient had fever since 10 days before admission which lasted 7 days; he showed restlessness by involuntary movements when catching, thus when holding something in his hand, it fell off. He had difficulty in walking and talking. On physical examination, were hyperemic the tonsils and pharynx; there was muscular hypotonia, flexed arms and metacarpophalangeal extension. Laboratory findings showed leukocytosis, increased ASTO titer, positive CRP and normal cerebral spinal fluid. Head CT scan showed no abnormality. Electrocardiogram and EEG were in normal limits. Throat swab culture produced Group A Streptococcus beta hemolyticus. The diagnosis of sydenham's chorea was established. Procaine penicillin, phenobarbital and vitamins were administered to the patient. After 5 weeks in the ward the patient was doing well, and now he is working and speaking normally; he is on ambulatory treatment with 1.2 million units/month of long-acting benzathine penicillin, at the Department of Child Health, Tembakau Deli Hospital, Medan.
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PMID:Sydenham's chorea. 207 7

Overdose of pentazocine (Talwin), an agonist/antagonist opioid analgesic, is relatively uncommon. Fifty-seven cases occurring over ten years are reported. Twenty-three patients (40%) had ingested only pentazocine and did not have the classic opioid toxidrome of CNS and respiratory depression with miosis. Most patients were awake, and no patient had a respiratory rate below 12/minute. Other findings included: grand mal seizures, hypertension, hypotonia, dysphoria, hallucinations, delusions, and agitation. Eleven of 23 patients received IV naloxone (0.4-2.4 mg), but only two showed improvement. Thirty-four patients (60%) had coingested pentazocine with one to five additional substances. Patients who had ingested pentazocine with alcohol, a sedative/hypnotic drug, or an antihistamine, showed increased toxicity, including apnea, deep coma, and recurrent seizures. One patient developed opioid pulmonary edema. One patient died. Three of five patients with coma and inadequate respirations responded to IV naloxone in doses of 0.4 to 1.2 mg.
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PMID:Pentazocine (Talwin) intoxication: report of 57 cases. 235 1

A 74-year-old woman with a history of cerebrovascular disease developed profound central nervous system (CNS) and respiratory depression, generalized hypotonia, sinus bradycardia, and urinary retention following an increase in dose of baclofen, an antispasticity agent. Before receiving baclofen therapy the patient had had minor urinary dysfunction associated with a remote cerebrovascular accident but no urinary retention. Cessation of baclofen therapy and the relief of the urinary obstruction improved mental status and normalized motor function within 24 hours. A withdrawal syndrome of agitation, hallucinosis, and convulsive activity persisted for eight days following discontinuation of the baclofen. Our experience suggests that patients with various forms of CNS disease states may be at risk of serious CNS depression with even small therapeutic doses of baclofen.
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PMID:Aggravated CNS depression with urinary retention secondary to baclofen administration. 402

The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of skin biopsy specimens in three individuals with the disorder (aged 17, 9, and 8 years) revealed cytoplasmic, membrane-bound, electron-lucent vacuoles and some electron-dense membranous inclusion bodies in fibroblasts and Schwann cells, as well as axonal degeneration and vascular changes. Computed tomographic scans evidenced brain atrophy. Urinary excretion of glycosaminoglycans (GAG) was four to five times greater than in normal controls. The predominant urinary GAG was a low-sulfated chondroitin-4-sulfate; chondroitin-6-sulfate and heparan sulfate excretion levels were normal. A tenfold increase in urinary GAG excretion was found in one patient with oculocerebrorenal syndrome during periods of behavioral agitation. These findings suggest that the clinical stigmata of oculocerebrorenal syndrome may be related to a defect in GAG metabolism.
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PMID:Ultrastructural, neurological, and glycosaminoglycan abnormalities in lowe's syndrome. 608 20

Ornithine transcarbamylase (OTC) deficiency, the most common inborn error of the urea cycle, shows X-linked inheritance with frequent new mutations. Using polymerase chain reaction (PCR) amplification of the individual exons including adjacent intron sequences followed by direct sequencing of the amplimers we identified four new mutations affecting donor splice sites of introns 2, 5, 6, and 8. The mutation at the first position of intron 2 was a G to A exchange associated with acute neonatal hyperammonemia in a male patient at the age of 5 months. A G to C substitution in intron 5 was detected in a boy who developed 2 days after birth hypotonia, and respiratory distress, followed by severe hyperammonemia and terminal coma. The intron 6 mutation, a G to T substitution, was detected in a girl presenting with first episodes of vomiting and agitation at the age of 2 months. The mutation in intron 8, also a G to T transition, caused fatal hyperammonemia and early death at the age of 15 days in a male patient. We present four donor splice site mutations resulting in severe neonatal or very early onset of the disease in three boys and in one female patient. As the GT dinucleotide of the 5' donor splice site is invariant and required for correct splicing the described mutations may lead to improperly spliced mRNAs and aberrant gene products.
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PMID:Identification of four novel splice site mutations in the ornithine transcarbamylase gene. 856 55

We report a novel inborn error of metabolism identified in a child with an unusual neurodegenerative disease. The male patient was born at term and recovered well from a postnatal episode of metabolic decompensation and lactic acidosis. Psychomotor development in the first year of life was only moderately delayed. After 14 mo of age, there was progressive loss of mental and motor skills; at 2 years of age, he was severely retarded with marked restlessness, choreoathetoid movements, absence of directed hand movements, marked hypotonia and little reaction to external stimuli. Notable laboratory findings included marked elevations of urinary 2-methyl-3-hydroxybutyrate and tiglylglycine without elevation of 2-methylacetoacetate, mild elevations of lactate in CSF and blood, and a slightly abnormal acylcarnitine profile. These abnormalities became more apparent after isoleucine challenge. Enzyme studies showed absent activity of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) in the mitochondrial oxidation of 2-methyl branched-chain fatty acids and isoleucine. Under dietary isoleucine restriction, neurologic symptoms stabilized over the next 7 months.
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PMID:Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. 1110 58

A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneous prehension, long face, synophris, hypertelorism with epicanthic folds, internal alternating strabismus, retinal abnormalities with macular degeneration, beaked nose, long philtrum, high-arched palate, lumbar spina bifida, right paravertebral dimple at the upper sacral region, prominent coccyx, broad thumbs and great toes, fetal pads and cryptorchidism. The special behavioural difficulties were made of restlessness, hyperactivity, obsessive compulsive reactions with a self-injurious tendency and episodes of apparently voluntary vomiting crisis concomitant with stress periods. A review of the available literature strongly suggests that individuals with small chromosomal deletions are at high risk of developing behavioural problems.
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PMID:Terminal 6q25.3 deletion and abnormal behaviour. 1169 83

An 11-year-old girl with Sydenham chorea presented with a rapid onset of serious restlessness of mainly the right side of the body. Additional laboratory investigations revealed no abnormalities, yet this is not unusual for such cases. Valproic acid and pimozide were then successively prescribed because of the chorea. For secondary prevention she received long-term oral penicillin. Sydenham chorea is a manifestation of rheumatic fever and occurs after a throat infection by group A streptococci. The disease is characteristic and consists of a combination of choreic movements, hypotonia and emotional lability. The clinical course is diverse. Improvement usually occurs over a period of several months, although a significant proportion of patients exhibit little recovery.
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PMID:[A child with peculiar movements: Sydenham chorea]. 1262 82

Deficiency of dihydropyrimidine dehydrogenase (DPD) is a rare inborn error of pyrimidine metabolism. To date, only about 50 patients are known worldwide. The clinical picture is varied and is not yet fully described. Most patients are diagnosed at the age of 1-3 years. We present a patient diagnosed 8 weeks postpartum. The female patient presented in the first 3 days after birth with agitation, choking, and vomiting. Six weeks later, the patient presented again with vomiting and insufficient weight gain. Metabolic screening of urine showed a strongly increased excretion of uracil and thymine, with no other abnormalities. This suggested a deficiency of DPD which was confirmed by enzyme analysis in peripheral blood mononucleair (PBM) cells (patient: activity <0.01 nmol/mg/h; controls: 9.9 +/- 2.8 nmol/mg/h). The patient was homozygous for the IVS14+1G>A mutation.MRI of the brain showed some cerebral atrophy; myelinization appeared normal. Many patients with DPD-deficiency suffer from convulsions and mental retardation, some show microcephaly, feeding difficulties, autism, and hypertonia. Our patient showed feeding difficulties and in the second half-year she developed slight motor retardation and generalized hypotonia. Further observation of the development of the patient may shed more light on the relationship between clinical symptoms and DPD deficiency. DPD deficiency may present in newborns with vomiting and hypotonia as the main symptoms.
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PMID:A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. 1706 71


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