Pediatric neurology
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Pediatric neurology · Mar 2010
Case ReportsIntracerebral blood and MRS in neonatal nonketotic hyperglycinemia.
Nonketotic hyperglycinemia is an inborn error of glycine metabolism leading to the accumulation of glycine in the brain. The neonatal form presents in the first days after birth with encephalopathy, seizures. and characteristic "hiccups." Rapid progression can lead to intractable seizures, coma, and respiratory failure. The outcome is invariably poor, and many die before age 1 year. ⋯ However, there have been no reports of intracerebral blood confounding the cerebral glycine detected on long echo time proton magnetic resonance spectroscopy. We report on an infant who presented with neonatal encephalopathy and imaging findings consistent with hypoxic-ischemic encephalopathy, as well as intracerebral hemorrhage and an abnormal glycine peak on spectroscopy. The source of the abnormal glycine on long echo time proton magnetic resonance spectroscopy was intracerebral blood, highlighting an important confounder in the interpretation of long echo time proton magnetic resonance spectroscopy in suspected nonketotic hyperglycinemia.
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Pediatric neurology · Mar 2010
Review Case ReportsDiaphragmatic paralysis associated with neonatal brachial plexus palsy.
Phrenic nerve palsy can occur in the context of neonatal brachial plexus palsy, yet neither outcomes nor definitive treatment guidelines have been established. Diaphragmatic paralysis alone in the newborn results in significant respiratory sequelae and failure to thrive. Reviewing the available literature revealed little information about the incidence of phrenic nerve palsy associated with neonatal brachial plexus palsy, or whether outcomes are associated with the severity of the brachial plexus palsy. ⋯ The severity of brachial plexus palsy failed to correlate with severity of respiratory consequences. None of the patients underwent nerve repair or reconstruction. We suggest that diaphragmatic paralysis should not be overlooked during a brachial plexus examination, and diaphragmatic paralysis in the very young may require aggressive intervention before the treatment of brachial plexus palsy.