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)

This study presents a large multicenter cohort of children with cerebral venous thrombosis from 5 centers in the United States and analyzes their clinical findings and risk factors. Seventy patients were included in the study (25 neonates, 35%). The age ranged from 6 days to 12 years. Thirty-eight (55%) were younger than 6 months of age, and 28 (40%) were male. Presenting features included seizures (59%), coma (30%), headache (18%), and motor weakness (21%). Common neurological findings included decreased level of consciousness (50%), papilledema (18%), cranial nerve palsy (33%), hemiparesis (29%), and hypotonia (22%). Predisposing factors were identified in 63 (90%) patients. These included infection (40%), perinatal complications (25%), hypercoagulable/hematological diseases (13%), and various other conditions (10%). Hemorrhagic infarcts occurred in 40% of the patients and hydrocephalus in 10%. Transverse sinus thrombosis was more common (73%) than sagittal sinus thrombosis (35%). Three children underwent thrombolysis, 15 patients received anticoagulation, and 49 (70%) were treated with antibiotics and hydration. Nine (13%) patients (6 of them neonates) died. Twenty-nine patients (41%) were normal, whereas 32 patients (46%) had a neurological deficit at discharge. Seizures and coma at presentation were poor prognostic indicators. In conclusion, cerebral venous thrombosis predominantly affects children younger than age 6 months. Mortality is high (25%) in neonatal cerebral venous thrombosis. Only 18 (25%) patients were treated with anticoagulation or thrombolysis.
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PMID:Cerebral venous sinus thrombosis in children: a multicenter cohort from the United States. 1818 40

Propionic acidemia is a metabolic disorder (OMIM 606054) caused by deficiency of the propionyl-coenzyme A (CoA) carboxylase, which subsequently results in accumulation of propionic acid. Patients may initially present with poor feeding, vomiting, loss of appetite, hypotonia, and lethargy. Later, most children will show different degrees of motor, social and language delay even more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Two siblings affected with propionic acidemia were screened for putative mutations in PCCA and PCCB genes coding alpha and beta subunits of propionyl-coenzyme A (CoA) carboxylase, respectively. Both patients had a mild-severe form of propionic acidemia. The investigations using PCR, long-PCR, array comparative genomic hybridization (aCGH), and sequencing techniques showed a approximately 73kb deletion extending from intron 16 to intron 19 and an 18bp insertion at the distal end of the deletion in PCCA gene. The deletion so far is the largest gross change reported in the literature for the PCCA gene.
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PMID:Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia. 1879 Jul 21

Nonketotic hyperglycinemia is an autosomal recessive disorder of glycine metabolism. Patients generally present in the neonatal period with lethargy, feeding difficulty, hypotonia, apnea, poorly controlled convulsions, and coma. Myoclonic seizures and burst suppression pattern on electroencephalography are major findings of disease, but development of hydrocephalus is not an expected finding. The present case is that of an infant with acquired hydrocephalus, psychomotor retardation, and myoclonic seizures in whom the final diagnosis was nonketotic hyperglycinemia.
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PMID:Nonketotic hyperglycinemia and acquired hydrocephalus. 1913 33

Ethylmalonic encephalopathy is a recently described inborn error of metabolism characterized clinically by developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. We describe monochorionic twins presenting with hypotonia in infancy and diagnosed with ethylmalonic encephalopathy on the basis of biochemical findings. They are compound heterozygote for missense mutations in ETHE1. Magnetic resonance imaging changes affecting the white matter, corpus callosum, and basal ganglia were seen in both patients. At 10 years of age, they have severe axial hypotonia but never displayed petechiae, orthostatic acrocyanosis, or chronic diarrhea. Their clinical courses differ markedly; one had an episode of coma when she was 3 years old and now has spastic quadraparesis and cannot speak. The other can freely use her upper extremities, her pyramidal syndrome being mostly limited to the lower extremities, and can speak 2 languages. These patients illustrate the clinical heterogeneity of ethylmalonic encephalopathy, even in monochorionic twins.
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PMID:Clinical heterogeneity in ethylmalonic encephalopathy. 1928 97

We describe the first ziprasidone overdose with quantitative serum levels of a pediatric patient in coma and with pinpoint pupils. This case is an important contribution to the pediatric ziprasidone literature because it illustrates that ingestion of just 1 pill may result to profound mental status and respiratory depression in a child. H.C., a 30-month-old girl, presented to the emergency department approximately 30 minutes after an accidental ingestion of an adult family member's medication. The child was found on the floor surrounded by numerous pills and was witnessed to have ingested at least 1 tablet by a caregiver. After finding the child with the pills, the family observed the child for a brief period but transported her to the hospital after she became lethargic and unresponsive. The child received 2 doses of 0.4 mg of intravenous naloxone without change in her neurologic status. The child then underwent a rapid sequence intubation for airway protection and subsequently received gastrointestinal decontamination with 15 g of activated charcoal via the orogastric tube. Ziprasidone is an atypical antipsychotic drug that was approved by the Food and Drug Administration in February 2001 for the general treatment of schizophrenia in adults. Previously reported pediatric ziprasidone overdoses describe a syndrome of sedation, tachycardia, hypotonia, and coma consistent with that of the patient described in this paper. In pediatric ziprasidone overdose, QTc prolongation and hypotension have also been illustrated, but seizures have not been reported. An interesting aspect of this case is the development of pinpoint pupils unresponsive to naloxone. This phenomenon has been reported before with overdose of olanzapine, a similar atypical antipsychotic. The mechanism of miosis associated with overdose of atypical antipsychotics is unclear but is likely related to interference with central innervation of the pupil. Pupil size is maintained by a balance between sympathetic and parasympathetic neurohumeral tones. We propose that an overdose of an alpha-1 receptor blocking agent, such as ziprasidone, results in unopposed parasympathetic stimulation resulting in miosis.
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PMID:Pediatric ziprasidone overdose. 1936 40

A case of transient hyperammonemia of the newborn (THAN) is described in this paper. THAN is the disorder that is much more frequently present than diagnosed. Therefore, it is necessary to estimate the serum ammonia level in every preterm newborn infant, who develops the signs of respiratory distress syndrome in the first hours of life, along with the symptoms of hyperammonemia (lethargy, hypotonia, seizures, and coma). Dialysis proved the most effective treatment.
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PMID:A case of transient hyperammonemia in the newborn transient neonatal hyperammonemia. 1965 37

Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia, is a life-threatening metabolic disease caused by inherited deficiency of the glycine cleavage system (GCS). GE is characterized by accumulation of a large amount of glycine in serum and cerebrospinal fluids. In typical cases with GE, coma, profound hypotonia, and intractable seizures develop within several days of life. Patients with atypical symptoms may have delayed or missed diagnosis because of non-specific symptoms. It is sometimes problematic to confirm the diagnosis of GE since it requires either invasive liver biopsy for measurement of GCS activity or exhaustive mutational screening of three GCS genes, GLDC, AMT, and GCSH. We herein describe two novel laboratory tests for diagnosis of GE, [1-(13)C]glycine breath test and the multiplex ligation-dependent probe amplification (MLPA) for detection of large deletions in GLDC. The [1-(13)C]glycine breath test has been developed for noninvasive enzymatic diagnosis of GE. Because the GCS generates CO(2) by degradation of glycine, the GCS activity could be evaluated in vivo by measurement of exhaled (13)CO(2) after administration of a stable isotope, [1-(13)C]glycine. The MLPA has been developed for improvement in mutation detection rate in GE: Deletions involving multiple GDLC exons are prevalent among GE patients, but cannot be detected by the exon-sequencing analysis. Two novel diagnosis methods would facilitate diagnosis of hyperglycinemic patients as having GE.
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PMID:Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia). 2147 Aug 5

An 8-month old girl, weighing 9 kg, was brought by her parents at 8.15 am to the Emergency Department (ED) for a progressive worsening of weakness and acute respiratory failure. On admission, the baby presented with poor oral intake, a weak cry and extremely weak muscular body control. Poor gag and suck, unreactive mydriasis, hypotonia, lethargy and absence of peristalsis were noted. Laboratory data showed severe respiratory acidosis. Chest X-ray, electroencephalography, encephalic CT scan and MRI were all normal, as were cerebrospinal fluid analysis and viral tests. Orotracheal intubation and continuous mechanical ventilation were applied. The patient received fluids, corticosteroids, aerosol therapy, large-spectrum antibiotics and enteral-nutrition. Further investigation revealed ingestion of an improperly prepared home-canned homogenized turkey meal. Type A botulinum neurotoxin was identified. Trivalent botulinum antitoxin, prostigmine and oral activated charcoal were administered. Generalized flaccid paralysis, areflexic bilateral mydriasis, gastric stasis and deep coma persisted for the duration of the hospital stay, and the patient died of severe respiratory failure and cardiac arrest 12 days after ED admission. Botulism poisoning should be suspected in any infant presenting with feeding difficulties, constipation, descendent paralysis or acute respiratory failure. Supportive treatment and antidotal therapy should be performed as soon as a clinical diagnosis is made. We describe a case of foodborne botulism in an 8-month old infant caused by ingestion of an improperly prepared home-canned homogenized turkey meal, representing the youngest fatal case reported in medical literature.
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PMID:Fatal course of foodborne botulism in an eight-month old infant. 2235 16

We describe a case of accidental cannabis poisoning in a 10-month-old girl, who presented with impaired consciousness, with drowsiness and restlessness, generalized hypotonia, and inadequate smiles. No circulatory or respiratory problems were observed. Initial investigations were not informative (blood biology, CT scan, and cerebrospinal fluid examination), while the main causes of coma (meningoencephalitis, head trauma, metabolic disorders) were excluded. Questioning the parents led to suspecting accidental ingestion of a piece of cannabis, which was confirmed by the detection of high blood and urine levels of cannabinoid derivatives. Management was symptomatic and the clinical course, marked by the occurrence of agitation and irritability episodes lasting up to H18, led to complete regression of symptoms. Because of the high consumption in France, pediatric poisoning by cannabis seems increasingly common. The toxic levels in children are unknown however. Diagnosis is based on questioning and the search for cannabinoid derivatives in urine. In children, clinical symptoms are more expressive compared to adults, with neurological (drowsiness, agitation, abnormal behavior, ataxia, hypotonia, coma, and convulsions) or cardiopulmonary (tachycardia, bradypnea, apnea) or homeostatic presentations (hypothermia). Treatment in children is essentially symptomatic but sometimes requires active resuscitation. Recommendations are based on clinical monitoring the first 24h after intoxication and on medicosocial support.
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PMID:[Acute cannabis poisoning in a 10-month-old infant]. 2265 16

There was an outbreak of new emergence viral encephalitis caused by Nipah virus among humans in some areas of Bangladesh during 2001 - till to date. The disease affected mainly the young, had increased suspicion to spread from bat to man through eating of the same fruits. The risk of human-to-human transmission is thought to be low though many of the affected individuals belonged to the same family. The disease presented mainly as acute encephalitis with usually a short incubation period of less than two weeks, with the main symptoms of fever, headache, and giddiness followed by coma. Distinctive clinical signs include areflexia, hypotonia, hypertension, tachycardia and segmental myoclonus. Serology was helpful in confirming the diagnosis. Magnetic resonance imaging (MRI) showed distinctive changes of multiple, discrete or confluent small high signal lesions, best seen with fluid-attenuated inversion recovery (FLAIR) sequences. Mortality was as high as 32-92% and death was probably due to severe brainstem involvement. Relapse encephalitis was seen in those who recovered from acute encephalitis, and late-onset encephalitis was seen in those with initial non-encephalitic or asymptomatic diseases. Both these manifested as focal encephalitis arising from recurrent infection.
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PMID:Re-emergence Nipah - a review. 2313 35


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