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)

Cf the 87 survivors of extracorporeal membrane oxygenation over a 10-year period, 67 participated in a follow-up study which included neurologic examination (n = 67), cognitive testing (n = 67), and audiologic assessment (n = 33). Matched control subjects for those older than 5 years were also evaluated. Outcome was defined as normal for cognitive scores greater than or equal to 85 and normal neurologic examination results, suspect for cognitive scores 70 through 84 or nonfocal neurologic findings such as hypertonia/hypotonia, and abnormal for cognitive scores less than 70 or abnormal neurologic examination results. Of the 10 school-aged children studied, 9 were normal and there were no differences in mean cognitive scores between subjects and controls (IQ subjects = 109 +/- 12 [SD], IQ controls = 107 +/- 13). For preschoolers aged 2.7 through 4.11 years, the mean cognitive score was 91 +/- 11 and 7 (70%) were normal. For infants 6 through 30 months, the mean cognitive score was 101 +/- 22 and 27 (57%) were normal. A total of 7 children (21% of those studied) had abnormal audiologic assessments. Three children demonstrated mild high-frequency and 4 moderately severe high-frequency sensorineural hearing loss which was bilateral in 3 and of undetermined laterality in 1. Abnormal neurodevelopmental outcome was significantly associated with cerebral infarction and chronic lung disease. Outcome was not related to demographic or perinatal variables, illness severity prior to extracorporeal membrane oxygenation, or underlying diagnosis. Neurodevelopmental outcome among survivors of extracorporeal membrane oxygenation in this series is consistent with previous reports of morbidity among neonates with severe respiratory failure treated conventionally.
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PMID:Ten years of extracorporeal membrane oxygenation: neurodevelopmental outcome. 170 57

Cerebral arterial infarction is a more common cause of neonatal seizures than has been previously appreciated. In 50 full-term newborns with seizures studied, 7 had cerebral infarction which was the second most common definable cause of seizures. We describe these 7 full-term infants with cerebrovascular accidents who presented with focal or generalized seizures. Obstetrical histories were normal in 5 of these patients. Their neurological examinations demonstrated lethargy and generalized hypotonia. Electroencephalograms demonstrated focal abnormalities in 4 infants. Computed tomographic scans in the first week of life showed infarctions in 6 newborns and in another at age 6 months. Neonatal stroke should be considered as a cause of seizures in a full-term newborn in spite of a normal obstetrical history and a nonfocal neurological examination.
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PMID:Seizures and cerebral infarction in the full-term newborn. 400 59

The clinical courses of 8 term infants with focal cerebral infarction or neonatal stroke were studied to determine whether such infants can be identified by current markers of perinatal distress, and whether changes in cerebral blood flow velocity (CBFV) occur during the acute phase of the disease. CBFV was measured from the middle cerebral artery (MCA) and anterior cerebral artery (ACA) utilizing duplex Doppler. Seven of the 8 patients required no resuscitation in the delivery room; 1 infant required brief bag and mask ventilation. No infant had evidence of severe fetal acidemia (i.e., cord pH < 7). All 8 infants were initially admitted to the newborn nursery. Infants were identified on the basis of abnormal clinical findings observed during the first 48 hours: seizures (n = 6) and hypotonia and apnea (n = 2). Serum electrolytes, calcium, magnesium, and glucose levels were normal, and the sepsis evaluation including a spinal tap was sterile in all patients. Neuroimaging revealed nonhemorrhagic left focal MCA infarction (n = 6) and right focal MCA infarction (n = 2). Duplex Doppler demonstrated transient ipsilateral decreases in CBFV as compared to the contralateral unaffected side at clinical presentation in 4 infants. In 2 of these infants the decrease in CBFV involved both the MCA and ACA, and in 2 infants, only the MCA vessels. These side-to-side differences were not present at subsequent CBFV measurements. The data indicate that infants who develop neonatal stroke cannot be distinguished from infants who do not develop the lesion by current markers of perinatal distress.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Neonatal stroke: clinical characteristics and cerebral blood flow velocity measurements. 770 86

A full-term neonate was born to a 41-year-old woman via elective primary cesarean section for frank breech presentation after a 41-week pregnancy. Starting at 6 hr of age the infant presented with multiple episodes of apnea and cyanosis, in association with moderate hypotonia, subsequently requiring assisted ventilatory support for 2 days. Computerized axial tomography of the brain revealed infarction in the distribution of the left middle cerebral artery. Magnetic resonance imaging of the brain showed a left middle cerebral artery territory infarct and also a small right posterior-temporal infarct. Magnetic resonance angiography of the head and neck was normal, however, inferring that the vascular infarction was peripheral in location. Maternal anticardiolipin antibodies were elevated. This is only the fifth reported case of cerebral infarction in a newborn in association with elevated maternal anticardiolipin antibodies.
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PMID:Neonatal middle cerebral artery infarction: association with elevated maternal anticardiolipin antibodies. 972 63

We describe a patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS). This patient showed central hypotonia, mental retardation, disappearance of language, multiple facial anomalies, and intractable epilepsy. Overnight EEG showed CSWS (spike & wave index = 99.2%) at seven years of age. Chromosomal analysis using G-banding revealed a deletion at the end of chromosome 22, indicative of 22q13 syndrome. In addition, subsequent magnetic resonance imaging (MRI) demonstrated cerebral infarction in the left posterior temporal area, which was probably caused by recurrent status epilepticus. Unlike previous case reports, a striking feature in this patient was the development of motor deterioration after 15 years of age. The severe EEG abnormalities and frequent status epilepticus might induce this deterioration and brain infarction.
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PMID:[A patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS) and cerebral infarction]. 1802 68

An autopsy case report of Trousseau's syndrome caused by intrahepatic cholangiocarcinoma is presented, and seven previously reported cases are reviewed. A 73-year-old woman experiencing light-headedness and dementia of unknown cause for 6 months developed severe hypotonia. A hypointense lesion compatible with acute cerebral infarction was detected by magnetic resonance imaging. Abdominal computed tomography revealed an ill-defined large liver mass in the right lobe. The mass was not further investigated because of the patient's poor condition. She died of multiple organ failure, and an autopsy was conducted. Postmortem examination revealed intrahepatic cholangiocarcinoma, fibrous vegetations on the mitral valves and multiple thromboemboli in the cerebrum, spleen and rectum. Trousseau's syndrome is defined as an idiopathic thromboembolism in patients with undiagnosed or concomitantly diagnosed malignancy. This syndrome is encountered frequently in patients with mucin-producing carcinomas, while the incidence in patients with intrahepatic cholangiocarcinoma is uncommon. We found that tissue factor and mucin tumor marker (CA19-9, CA15-3 and CA-125) expression in cancer cells may be involved in the pathogenesis of thromboembolism. A patient with unexplained thromboembolism may have occult visceral malignancy; thus, mucin tumor markers may indicate the origin of a mucin-producing carcinoma, and postmortem examination may play an important role in revealing the hidden malignancy.
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PMID:Trousseau's Syndrome Caused by Intrahepatic Cholangiocarcinoma: An Autopsy Case Report and Literature Review. 2498 59

Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan (GAG) side chains. The enzyme glucuronyltransferase 1, encoded by B3GAT3, adds the last four saccharides comprising the linker region. Mutations in B3GAT3 have been reported in two unrelated families with the same homozygous mutation (c.830G>A, p.Arg277Gln). We report on a patient with a novel homozygous B3GAT3 (c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma. Our patient was a 12-month-old boy born to consanguineous parents and, like previously reported patients, he had bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes, bilateral club feet, and atrial and ventricular septal defects. He had the additional features of bilateral glaucoma, hypertelorism, upturned nose with anteverted nares, a small chest, a diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, and perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas. We highlight the extended phenotypic range of B3GAT3 mutations and a provide comparative overview of the phenotypic features of the linkeropathies associated with mutations in XYLT1, B4GALT7, B3GALT6, and B3GAT3.
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PMID:A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. 2608 40