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Biomedical subjects

Richard E Frye

Publications and source records attributed to Richard E Frye.

6 recordsLinked to original sources
PubMed2006

Air swallowing caused recurrent ileus in Tourette's syndrome.

This report describes an adolescent boy who has Tourette's syndrome and developed a subtle but significant increase in vocal tics after an 8-month respite. The increase in vocal tics was associated with an acute increase in psychological stressors and resulted in recurrent air swallowing, which, in turn, caused abdominal cramping, eructation, and flatus, eventually leading to aeroenteria. Air swallowing was recognized only after a second hospital admission for recurrent ileus. Air swallowing and associated symptoms were mitigated by reinstitution of psychopharmacologic treatment and an increase in the patient's self-awareness of the air-swallowing behavior. Clinically significant air swallowing has not been described previously in Tourette syndrome or a tic disorder. This case is important for pediatricians and pediatric gastroenterologists because either may be the first to evaluate a child or an adolescent with unexplained recurrent ileus. This report also documents the importance of the connection between the brain and the body.

Adolescent↗
PubMed2006

Recurrent aseptic encephalitis in periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome.

An 11-year-old boy with episodes of periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) is reported. Two PFAPA episodes were associated with aseptic encephalitis and seizures. Recurrent acute aseptic encephalitis or seizures have never been reported during the febrile episodes of PFAPA. This possible association is discussed within the context of the etiology of PFAPA.

Child↗
PubMed2006

Developmental regression and mitochondrial dysfunction in a child with autism.

Autistic spectrum disorders can be associated with mitochondrial dysfunction. We present a singleton case of developmental regression and oxidative phosphorylation disorder in a 19-month-old girl. Subtle abnormalities in the serum creatine kinase level, aspartate aminotransferase, and serum bicarbonate led us to perform a muscle biopsy, which showed type I myofiber atrophy, increased lipid content, and reduced cytochrome c oxidase activity. There were marked reductions in enzymatic activities for complex I and III. Complex IV (cytochrome c oxidase) activity was near the 5% confidence level. To determine the frequency of routine laboratory abnormalities in similar patients, we performed a retrospective study including 159 patients with autism (Diagnostic and Statistical Manual of Mental Disorders-IV and Childhood Autism Rating Scale) not previously diagnosed with metabolic disorders and 94 age-matched controls with other neurologic disorders. Aspartate aminotransferase was elevated in 38% of patients with autism compared with 15% of controls (P <.0001). The serum creatine kinase level also was abnormally elevated in 22 (47%) of 47 patients with autism. These data suggest that further metabolic evaluation is indicated in autistic patients and that defects of oxidative phosphorylation might be prevalent.

Aspartate Aminotransferases↗
PubMed2005

Focal seizure and cerebral contrast retention after cardiac catheterization.

Although rare, ionic and nonionic contrast-induced seizures occur as a complication of enhanced cranial computed tomography for both adults and children. However, contrast-induced seizures after cardiac catheterization has only been reported in adults. This report describes an 18-month-old male who developed a new-onset focal seizure 12 hours after cardiac catheterization. Unenhanced cranial computed tomography 1 hour after the seizure demonstrated general cerebral edema and unilateral focal cerebral contrast retention with sparing of the area supplied by the middle cerebral artery. The contrast was reabsorbed from the subarachnoid space over a 48-hour period, the cerebral edema resolved over several days, and the child returned to his baseline state 4 days after the seizure episode. This study documents the evolution of computed tomographic findings after contrast-induced seizures in a child. Contrast toxicity should be considered in any case of a new-onset neurologic deficit arising after angiography or enhanced computed tomography.

Brain↗
PubMed2003

Folinic acid-responsive seizures presenting as breakthrough seizures in a 3-month-old boy.

Neonatal seizures associated with white-matter changes on neuroimaging suggest an etiology of hypoxic-ischemic encephalopathy. Metabolic and idiopathic etiologies are also considerations but are less likely. Despite the fact that two disorders associated with neonatal seizures are diagnosed by cerebrospinal fluid neurotransmitter analysis, such an analysis is not standard in the work-up for idiopathic neonatal seizures. We describe an infant who had a prolonged delivery, seizures on the first day of life, and white-matter changes on neuroimaging. A progressive seizure disorder that was refractory to standard antiepilepsy medications developed at 2 months of age. Analysis of cerebrospinal fluid neurotransmitters at that time demonstrated a pattern consistent with folinic acid-responsive seizures. Seizures ceased 24 hours after starting folinic acid. Serial neuroimaging, electroencephalograms, and metabolic changes from this patient are presented. This case illustrates the importance of cerebrospinal fluid neurotransmitter analysis as part of the work-up for idiopathic neonatal seizures.

Anticonvulsants↗