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Biomedical subjects

J Bodensteiner

Publications and source records attributed to J Bodensteiner.

At least 19 recordsLinked to original sources
PubMed1998

Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions.

In a patient with clinical features of myoclonus epilepsy with ragged red fibers (MERRF), molecular genetic analysis of mitochondrial DNA did not show either of the two point mutations typically associated with MERRF but did show multiple deletions by Southern blot. This case further illustrates the heterogeneity observed with mtDNA mutations.

Adolescent↗
PubMed1995

Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan.

Low concentrations of the serotonin metabolite 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF) of patients with progressive myoclonus epilepsy (PME) suggest hypofunctional serotonergic neurotransmission. To study this hypothesis, we enrolled 6 patients with PME [Unverricht-Lündborg disease (U-L), mitochondrial encephalomyopathy, or Lafora disease] in a controlled, double-blinded, dose-ranging, cross-over add-on pilot clinical trial of 5-hydroxy-L-tryptophan (L-5-HTP) plus carbidopa after 2 other patients had received open-label L-5-HTP for compassionate use. Prestudy CSF 5-HIAA concentrations were low (< 20 ng/ml) in 6 patients regardless of the etiology of PME. One patient with U-L disease showed clinical improvement and a fivefold increase in CSF 5-HIAA, and 1 with Lafora disease showed a twofold increase in CSF 5-HIAA without improvement. A patient with Lafora disease reported enough improvement in myoclonus-evoked convulsions to continue chronic use of the drug. One patient with mitochondrial encephalomyopathy developed status epilepticus during treatment with L-5-HTP. As a group, patients had no statistically significant changes in myoclonus evaluation scale scores, subjective and objective measures of ataxia, seizure frequency, antiepileptic drug (AED) levels, or routine blood tests. These data suggest a serotonergic abnormality regardless of the underlying etiology of PME, but one that seldom responds to acute treatment with L-5-HTP.

5-Hydroxytryptophan↗
PubMed1994

Hypoplasia of the corpus callosum: a study of 445 consecutive MRI scans.

The size of the corpus callosum was assessed visually and by computer-assisted image analysis in a series of 445 consecutive magnetic resonance imaging (MRI) scans in children under 17 years of age. Fifty individuals were subjectively identified with small corpora callosa on visual inspection of the MRI scans. Seven patients had true hypoplasia of the corpus callosum after comparing the computer-measured relative size of the structure to previously established normal values. Five additional patients had complete agenesis, and two had partial agenesis of the corpus callosum. The cognitive functional levels of the seven patients with callosal hypoplasia and a control group of 63 randomly selected individuals from the remainder of the group were ascertained by record review. Seventy-one percent of the patients with hypoplasia of the corpus callosum and 29% of the control group had impaired function. The P value determined by Fisher's exact test was P = .061, suggesting that further study with greater numbers may be warranted. The prevalence of mental retardation in this condition, and the fact that hypoplasia is as common as complete and partial agenesis of the corpus callosum combined, suggest that hypoplasia of the corpus callosum is a marker of cerebral dysgenesis that should be looked for in the appropriate clinical setting.

Agenesis of Corpus Callosum↗
PubMed1994

Electrodiagnosis of infantile botulism.

Analysis of the literature on the electrophysiologic features of infantile botulism was undertaken. Small compound muscle action potential amplitude is a very sensitive feature but lacks specificity. The decremental response to 2- to 3-Hz repetitive nerve stimulation is inconsistent and not a reliable sign. Tetanic and posttetanic facilitation are highly sensitive and highly specific. Absence of posttetanic exhaustion is also highly specific for infant botulism and shared only by hypermagnesemia. We conclude that the findings of low compound muscle action potential amplitude in combination with tetanic facilitation or posttetanic facilitation and absence of posttetanic exhaustion constitute the triad on which the electrodiagnosis of infantile botulism can be supported.

Botulism↗
PubMed1994

Treatment of spastic gait in cerebral palsy.

The most common presentation of cerebral palsy is spastic diplegia, which in severe cases can impede nursing care and in less severe cases can impair a child's ability to move around with facility. A procedure has been developed to decrease spasticity in which there is selective section of portions of the dorsal roots L2-S2. In a series of such operations in 19 children with spastic diplegia, we were able to decrease their spasticity significantly with resultant improvement in motor function and self care. There were no significant complications and patient and family satisfaction was high. Our experiences further confirm existing evidence that this procedure is very helpful and highly recommended for selected children with spasticity due to cerebral palsy.

Cerebral Palsy↗
PubMed1993

Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel.

We describe here a new congenital myasthenic syndrome associated with a kinetic abnormality of the acetylcholine receptor (AChR) channel. The propositus had poor suck and cry after birth. Subsequently, she had intermittent ocular symptoms and fatigued abnormally on exertion. At age 9 years, significant weakness was detected only in the frontalis, levator palpebrae, and neck flexor muscles. Electromyography showed no decrement in limb muscles but single-fiber examination of the facial muscles was consistent with a neuromuscular transmission defect. The ocular symptoms responded partially to pyridostigmine, but the abnormal fatigability did not. Tests for anti-AChR antibodies were negative. A younger sister had elements of the same disease. An intercostal muscle specimen was obtained from the propositus at age 9 years for endplate studies. The quantal content of the endplate potential was normal. Miniature endplate currents were abnormally large and their decay time constant was abnormally short. AChR channel properties were studied by analysis of acetylcholine-induced current noise. The mean single-channel conductance was increased 1.7-fold and the mean channel open time was 30% shorter than normal. The number of AChR per endplate was normal. Electron microscopy of most endplates showed no abnormality, but a few were degenerating or simplified. The channel abnormality may stem from a point mutation in an AChR subunit affecting a single amino acid residue lining the pore of the AChR channel. The mechanism by which the physiological abnormality produces clinical symptoms is not known, but possible explanations are considered.

Adult↗
PubMed1992

Spontaneous intracerebral hemorrhage: a very late delayed effect of radiation therapy.

Cerebral necrosis is a well-known delayed sequela of radiation to the central nervous system. Delayed intracerebral hemorrhage occurring several years after radiation is rare; however, with increased survival, this complication will become more common. We report a child who developed a brain-stem hemorrhage 4.5 years following radiation therapy for brainstem tumor. The possible pathogenesis for the spontaneous hemorrhage is discussed. The onset of the neurologic symptoms in this setting occurs later than the usual symptoms of radiation necrosis. It is important to recognize this entity as a late delayed complication of radiation therapy and not to mistake it for tumor recurrence.

Brain Neoplasms↗