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)

Seizures are more common in the neonatal period than at any other time of life, partly due to the relative hyperexcitability of the neonatal brain. Brain monitoring of sick neonates in the NICU using either conventional electroencephalography or amplitude integrated EEG is essential to accurately detect seizures. Treatment of seizures is important, as evidence increasingly indicates that seizures damage the brain in addition to that caused by the underlying etiology. Prompt treatment has been shown to reduce seizure burden with the potential to ameliorate seizure-mediated damage. Neonatal encephalopathy most commonly caused by a hypoxia-ischemia results in an alteration of mental status and problems such as seizures, hypotonia, apnea, and feeding difficulties. Confirmation of encephalopathy with EEG monitoring can act as an important adjunct to other investigations and the clinical examination, particularly when considering treatment strategies such as therapeutic hypothermia. Brain monitoring also provides useful early prognostic indicators to clinicians. Recent use of machine learning in algorithms to continuously monitor the neonatal EEG, detect seizures, and grade encephalopathy offers the exciting prospect of real-time decision support in the NICU in the very near future.
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PMID:Diagnosis of seizures and encephalopathy using conventional EEG and amplitude integrated EEG. 3132 21

Neonatal encephalopathy manifests with altered sensorium, tone abnormalities, and often with abnormal movements and seizures. The causes are heterogeneous and many. We report a late preterm neonate who presented with depressed sensorium, cranial nerve abnormalities, mixed hypertonia and hypotonia, and respiratory failure. Neuroimaging and electrophysiological studies were normal. She had neutropenia and elevated lactates in blood. Her dried blood spot analysis by tandem MS/MS showed normal acylcarnitine and amino acid profile. Plasma and cerebro spinal fluid (CSF) amino acid quantification were inconclusive, CSF folate was normal. Urine organic acid analysis showed elevated lactate. Semi-quantitative analysis of urine showed borderline elevation of 3-methylglutaconic acid. Diagnosis of 3-methylglutaconic aciduria (3MGA) type VIII was suggested by whole-exome sequencing, which revealed a homozygous, likely pathogenic, missense mutation in Exon 2 of HTRA2 gene (chr2.74757898A>C). Her parents were found to be carriers of the same mutation. This underscores the importance of genetic studies in the evaluation of neonatal neuro-metabolic disorders. We report the first case of 3MGA type VIII from our region with a review of already reported 11 cases.
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PMID:3-Methylglutaconic aciduria type VIII in an Indian neonate. 3244 93