PubMed Health⌕ Search

Biomedical subjects

G N Breningstall

Publications and source records attributed to G N Breningstall.

At least 19 recordsLinked to original sources
PubMed2001

Mortality in pediatric epilepsy.

Mortality in pediatric epilepsy is the subject of this review. Epilepsy in both adults and children increases the risk of premature death. Conditions that are comorbid with epilepsy may carry an increased mortality risk. Patients with neurologic compromise may be at risk for aspiration and critical respiratory disease. Epilepsy per se enhances the risks of accidents, particularly drowning. Epilepsy may result in unwitnessed or, less frequently, witnessed sudden death. Witnessed sudden death frequently involves an observed seizure. Cardiac and respiratory mechanisms for epileptic sudden death have been proposed. Reducing the number of seizures should reduce the risk for sudden death. Awareness of the increased risk for premature death associated with epilepsy may enhance patients' and parents' cooperation with therapy.

Accidents↗
PubMed2000

Intrauterine subdural hematoma.

A patient with neonatal macrocephaly due to bilateral chronic subdural hematoma is presented. There was no history of intrauterine trauma or coagulopathy. Such patients are apparently rare. The pathogenesis of intrauterine chronic subdural hematoma in such patients is unclear.

Cesarean Section↗
PubMed2000

Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children.

Carnitine transporter defect is characterized by severely reduced transport of carnitine into skeletal muscle, fibroblasts, and renal tubules. All children with dilated cardiomyopathy or hypoglycemia and coma should be evaluated for this transporter defect because it is readily amenable to therapy that results in prolonged prevention of cardiac failure. This article details the cases of 3 children who have carnitine transporter defect, 2 of whom had severe dilated cardiomyopathy. Plasma and skeletal muscle carnitine levels were extremely low and both children were treated with oral L-carnitine, resulting in resolution of severe cardiomyopathy and prevention of recurrence or cardiac enlargement for more than 5 years. The third child had hypoglycemia and coma as presenting findings of the transporter defect and had mild left ventricular hypertrophy but no cardiac failure. The prognosis for long-term survival in pediatric dilated cardiomyopathy is poor. Children with carnitine transporter defect can have a different outcome if their underlying condition is detected early and treated medically.

Biological Transport↗
PubMed1999

An adolescent with complicated migraine.

During an evaluation for complicated migraine, a 14-year-old adolescent female was found to have a left frontoparietal cortical infarction on magnetic resonance imaging study. A transthoracic echocardiogram was normal, but a transesophageal echocardiogram, with contrast study, showed occasional right to left shunting through a patent foramen ovale. The role of cardiac anomalies in the pathogenesis of migraine-associated stroke is discussed.

Adolescent↗
PubMed1999

An 11-year-old girl with syndrome of inappropriate antidiuretic hormone secretion.

An 11-year-old girl presented with a syndrome of inappropriate antidiuretic hormone secretion, which was transitory and, initially, of obscure origin. Subsequently, the patient's hypothalamic disorder emerged as a component of a steroid-responsive relapsing encephalomyelitis with cerebral pathology restricted to the basal ganglia and brainstem. Where such a disorder fits in the spectrum from acute disseminating encephalomeylitis to multiple sclerosis is discussed.

Amitriptyline↗
PubMed1999

Acute or subacute cranial computed tomography findings in patients with congenital lactic acidemia.

Two patients with congenital lactic acidemia of unknown etiology developed striking and extensive cranial computed tomography abnormalities of acute or subacute onset. In addition to Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), other lactic acidemia disorders may produce evolving cerebral radiographic abnormalities. An aggressive effort should be made in such patients to obtain a specific diagnosis through biochemical and molecular genetic studies.

Acidosis, Lactic↗
PubMed1996

Breath-holding spells.

Two particularly common, and frequently frightening, forms of syncope and anoxic seizure in early childhood are pallid and cyanotic breath-holding spells. Pallid breath-holding spells result from exuberant vagally-mediated cardiac inhibition. Cyanotic breath-holding spells are of more complex pathogenesis, involving an interplay among hyperventilation, Valsalva maneuver, expiratory apnea, and intrinsic pulmonary mechanisms. The history is the mainstay of diagnosis; videotape documentation may be possible. Performance of an electrocardiogram to evaluate for prolonged QT syndrome should be strongly considered. In patients with pallid breath-holding spells, a characteristic sequence of changes may be documented on an electroencephalogram with ocular compression, if this study is performed. Spontaneous resolution of breath-holding spell, without sequelae, is anticipated. Reassurance is the mainstay of therapy. Occasionally, pharmacologic intervention may be of benefit.

Apnea↗
PubMed1994

Magnetic resonance imaging in a patient with I-cell disease.

Autopsy reports in I-cell disease patients describe no salient abnormality of central nervous system morphology. Magnetic resonance imaging of the cranium in a patient with I-cell disease showed ventriculomegaly with frontal lobe atrophy and bifrontal leukomalacia. Central nervous system morphological abnormalities may occur in a subset of patients with I-cell disease.

Brain Diseases, Metabolic↗
PubMed1991

Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy.

Muscle biopsy was used to attempt determination of carrier status in mothers and maternal relatives of patients with severe neonatal centronuclear (myotubular) myopathy, an X-linked recessive disorder. We report findings from muscle biopsies of 3 mothers, one an obligate carrier. All biopsies showed abnormalities of nonspecific character. Whether such abnormalities assist in defining carrier status is uncertain. A more specific tissue marker for this disorder is required before muscle biopsy will facilitate carrier identification.

Biopsy↗
PubMed1991

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this disorder, the presenting features of 15 affected infants and children were examined. Progressive cardiomyopathy, with or without chronic muscle weakness, was the most common presentation (median age of onset, 3 years). Other patients presented with episodes of fasting hypoglycemia during the first 2 years of life before cardiomyopathy had become apparent. A defect in carnitine uptake was demonstrable in fibroblasts and leukocytes from patients. The defect also appears to be expressed in muscle and kidney. Concentrations of plasma carnitine and rates of carnitine uptake in parents were intermediate between affected patients and normal control subjects, consistent with recessive inheritance. Early recognition and treatment with high doses of oral carnitine may be life-saving in this disorder of fatty acid oxidation.

Biological Transport↗
PubMed1988

Fibrous dysplasia in a patient with tuberous sclerosis.

Though osseous abnormalities are associated with tuberous sclerosis, involvement of the skull base and orbit has not been reported. We describe a patient with superior displacement of the orbit and proptosis that were due to sphenoid hyperplasia and sclerosis characteristic of fibrous dysplasia. A pelvic osteosclerotic lesion suggested polyostotic involvement. The bony abnormalities implied neither concurrent neurofibromatosis nor McCune-Albright syndrome in this patient with tuberous sclerosis.

Child↗
PubMed1988

Neonatal rhabdomyolysis as a presentation of muscular dystrophy.

We report a unique presentation of X-linked recessive dystrophy as neonatal rhabdomyolysis. There was induration of the proximal musculature in an otherwise well neonate and striking CK elevation, without myoglobinuria. Muscle biopsy at age 1 year showed dystrophic alterations, and X chromosome analysis showed a deletion within or adjacent to the Duchenne/Becker locus.

Creatine Kinase↗