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J B Bodensteiner

Publications and source records attributed to J B Bodensteiner.

At least 19 recordsLinked to original sources
PubMed1999

The utility of the determination of CTG trinucleotide repeat length in hypotonic infants.

A 9-month-old male infant was floppy from birth with nonprogressive facial and distal limb weakness and apparently normal mother and father. The facial characteristics and distribution of involvement suggested congenital myotonic dystrophy and the infant, but not the mother, had insertional myotonia in one of four muscles tested. Had the number of CTG trinucleotide repeats been tested when the presence of a congenital myotonic dystrophy-like clinical picture was first appreciated, the proper diagnosis could have been made several months earlier. The application of new molecular genetic techniques is changing the usual sequence of studies performed in the evaluation of the hypotonic infant.

Humans↗
PubMed1999

Alexander's disease: unique presentation.

Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathologic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, but many cases have no identified metabolic abnormality. We report a case that clinically, metabolically, and neuroradiologically appeared to be Leigh syndrome. In addition, our patient exhibited other unusual clinical findings, including ocular motility abnormalities. Neuropathologically, however, the diagnosis of Alexander's disease was confirmed. A review of the literature failed to find other cases of Alexander's disease reported with the metabolic abnormalities and clinical manifestations with which our patient presented.

Autopsy↗
PubMed1998

Volumetric neuroimaging in Usher syndrome: evidence of global involvement.

Usher syndrome is a group of genetic disorders consisting of congenital sensorineural hearing loss and retinitis pigmentosa of variable onset and severity depending on the genetic type. It was suggested that the psychosis of Usher syndrome might be secondary to a metabolic degeneration involving the brain more diffusely. There have been reports of focal and diffuse atrophic changes in the supratentorial brain as well as atrophy of some of the structures of the posterior fossa. We previously performed quantitative analysis of magnetic resonance imaging studies of 19 Usher syndrome patients (12 with type I and 7 with type II) looking at the cerebellum and various cerebellar components. We found atrophy of the cerebellum in both types and sparing of cerebellar vermis lobules I-V in type II Usher syndrome patients only. We now have studied another group of 19 patients (with some overlap in the patients studied from the previous report) with Usher syndrome (8 with type I, 11 with type II). We performed quantitative volumetric measurements of various brain structures compared to age- and sex-matched controls. We found a significant decrease in intracranial volume and in size of the brain and cerebellum with a trend toward an increase in the size of the subarachnoid spaces. These data suggest that the disease process in Usher syndrome involves the entire brain and is not limited to the posterior fossa or auditory and visual systems.

Adult↗
PubMed1998

The rise and fall of the plantar response in infancy.

To determine when the plantar response becomes reliably flexor in infants, 169 infants underwent serial evaluation from 2 weeks to 12 months of age during routine well-child visits. The plantar response, elicited in a standardized fashion, was extensor in 95.5%, 64.8%, 10.9%, 0.7%, and 0% of the infants at 2, 4, 6, 9, and 12 months, respectively. The plantar response becomes predominately flexor by 6 months of age in normal infants. This maturation of response correlates closely with that of other infantile reflexes.

Age Factors↗
PubMed1998

Does selection bias determine the prevalence of the cavum septi pellucidi?

This study was undertaken to ascertain the prevalence of the persistent cavum septi pellucidi in children and adults by magnetic resonance imaging (MRI) and to compare the clinical indications for neuroimaging in the two age groups as a measure of group selection bias. All scans performed at West Virginia University during 1997 were reviewed for the presence of a persistent cavum septi pellucidi. The clinical indications for the MRI study were determined in 100 consecutive adult (17 years of age or older) and 100 consecutive pediatric (younger than 17 years of age) scans. In the 203 pediatric patients the prevalence of a persistent cavum septi pellucidi was 6.9%, and in the 814 adults the prevalence was 2.1%. Mental retardation/developmental delay was the clinical indication for at least 26% of the pediatric patients but was not an indication for neuroimaging in the adult study group. The known association of persistent cavum septi pellucidi with mental retardation and in several groups of patients with conditions clinically characterized by mental dysfunction suggests that the higher prevalence in the pediatric study group may primarily be the result of the patient selection bias operating through the different clinical indications for neuroimaging in the two populations.

Adolescent↗
PubMed1998

Radiological findings in developmental delay.

This article reviews the neuroimaging findings in patients with nonsyndromic mental retardation and global developmental delays. The frequency and type of abnormal neuroimaging findings in this patient population are discussed. Specifically addressed are the issues of which patients should have neuroimaging studies in light of (in the vernacular) "cost-benefit" analysis. The extension of these studies to "milder" developmental delays, and other neurodevelopmental disorders are also discussed.

Brain↗
PubMed1998

Basilar artery occlusion and the dense artery sign in the newborn.

A child with basilar artery occlusion in the neonatal period is reported. The occlusion was documented by unenhanced computed tomography performed in the neonatal period demonstrating a "dense" artery at the tip of the basilar artery. The pattern of cerebral damage on MRI scan at 10 years of age confirmed the site of the vascular occlusion. The evidence suggests that embolization was the operating pathogenic mechanism of cerebral vascular occlusion. Neonatal arterial thrombosis involving the carotid circulation has been well documented and may be due to many pathological factors including direct trauma to the carotid artery and embolization from remote sites. Thrombosis of the vertebral artery in the neonate is only rarely reported and only in association with significant cervical trauma. A second child with a similar pattern of cerebral injury demonstrated on neuroimaging is described suggesting that this event may be more common than recognized. The clinical features of basilar artery occlusion as seen in the adult are not apparent in the neonate. Recognition of the neuroimaging characteristics seen in this condition may help to provide the clinician with a reasonable pathogenetic explanation for unexplained cerebral injury.

Adult↗
PubMed1998

Cavum septi pellucidi and cavum vergae in normal and developmentally delayed populations.

Recent studies have shown that the persistence of the cavum septi pellucidi beyond the neonatal period is a marker of cerebral dysgenesis. It has been suggested that the finding of a persistent cavum vergae is also a marker of disturbed brain development. In order to investigate this hypothesis we reviewed 161 brain magnetic resonance imaging scans from normal individuals for the presence of cavum septi pellucidi or cavum vergae, or both. In the 34 prospectively obtained normal adults, there were no individuals with either a cavum septi pellucidi or cavum vergae. In the "defined" normal subjects 3 of 127 individuals (2.4%) had a cavum septi pellucidi whereas a cavum vergae was noted in 26 of 127 (20.5%). We next reviewed the neuroimaging studies of 249 children and adults evaluated for mental retardation or developmental delay. A cavum septi pellucidi was found in 38 of 249 (15.3%) and a cavum vergae in 48 of 249 (19.3%) of these patients. A cavum septi pellucidi and cavum vergae were found together in 19 of 249 (7.6%). We interpret these data as showing that the cavum septi pellucidi is rarely seen in normal individuals although the cavum vergae is seen with the same frequency in normal and retarded populations. Thus we conclude that the cavum septi pellucidi serves as a significant marker of cerebral dysfunction manifested by neurodevelopmental abnormalities while the cavum vergae alone does not identify individuals at risk for cognitive delays.

Adolescent↗
PubMed1997

The neuroimaging findings in Sotos syndrome.

We reviewed the neuroimaging studies of 40 patients with classic Sotos syndrome. The studies consisted of CT scans only in 4 patients and one or more MRI scans in 36 patients. The diagnosis of Sotos syndrome was made using well-established clinical criteria. The neuroimaging studies of each patient were evaluated subjectively by visual inspection and the chief findings were tabulated and grouped into five categories: 1) ventricular abnormalities, 2) extracerebral fluid spaces, 3) midline abnormalities, 4) migrational abnormalities, and 5) others. The most common abnormality of the cerebral ventricles was prominence of the trigone (90%), followed by prominence of the occipital horns (75%) and ventriculomegaly (63%). The supratentorial extracerebral fluid spaces were increased for age in 70% of the patients and the fluid spaces in the posterior fossa were increased in 70% also. A variety of midline abnormalities were noted but anomalies of the corpus callosum were almost universal. Gray matter heterotopias occurred in only 3 (8%) of 36 patients. Periventricular leukomalacia, presumably the result of prenatal or perinatal difficulties and unrelated to the basic condition, was the most common of the miscellaneous other abnormalities noted. The neuroimaging findings of Sotos syndrome are distinct enough to allow differentiation of this syndrome from other mental retardation syndromes with macrocephaly.

Abnormalities, Multiple↗
PubMed1997

The plantar response in normal newborn infants.

The neonatal plantar response has been reported as extensor in 90% of newborns and flexor in 93% of newborns, leading to uncertainty about its reliability and significance. To determine the normal neonatal plantar response we examined 349 healthy newborn infants, > 32 weeks gestation within 24 hours of birth. A supramaximal noxious stimulus was applied in a standardized manner to the lateral plantar surface of each foot. The plantar response was extensor in 90%, equivocal in 7%, and flexor in 3%. With proper physiologic technique, the normal neonatal plantar response is extensor.

Foot↗
PubMed1997

Macrocerebellum: neuroimaging and clinical features of a newly recognized condition.

Other than hamartomatous enlargement of the cerebellum as in Lhermitte-Duclos syndrome, diffuse enlargement of the cerebellum is not clearly described. We report four patients (ages 9 months to 2 years) with diffusely enlarged cerebelli as identified by measurement of the cerebellum and comparison to age appropriate normal values. The cerebellar measurements were determined in absolute numbers and expressed as ratios of cerebellum to whole brain and supratentorial brain. The clinical features of these four children (3 boys, 1 girl) consistently include global developmental delay, tone abnormalities, preserved reflexes, delayed or abnormal maturation of the visual system (oculomotor apraxia), and deficient or delayed myelination of cerebral white matter. The etiology of the macrocerebellum is unknown but we propose that the cerebellum is responding to the elaboration of growth factors intended to augment the slow development of cerebral structures. Regardless of the etiology, the finding of a macrocerebellum appears to allow the clinician to predict the clinical features of the patient and probably represents a marker for disturbed cerebral development.

Brain↗
PubMed1997

Dementia pugilistica and cavum septi pellucidi: born to box?

Described nearly 70 years ago as the 'punch drunk' syndrome, dementia pugilistica has recently received increasing attention in both the medical and lay press. The association between the finding of cavum septi pellucidi and dementia in old boxers was first described by Ferguson and Mawdsley in 1965. Since then it has commonly been listed as one of the features of this condition. We review the significance and the epidemiology of cavum septi pellucidi and present an alternative explantation for the association between this developmental anomaly of the brain and dementia pugilistica.

Aged↗
PubMed1996

Hypoplasia of the cerebellar vermis in neurogenetic syndromes.

There are conflicting reports on the relationship between cerebellar vermal lobule hypoplasia and autism. Using quantitative magnetic resonance image analysis, we measured the cerebellar vermis in 125 normal individuals with a broad age range and 102 patients with a variety of neurogenetic abnormalities. We conclude that hypoplasia of cerebellar vermal lobules VI and VII is a nonspecific finding that even occurs in several conditions with-out autistic behavior. This suggests that it is not a specific neuroanantomical marker for autism, nor is cerebellar dysgenesis likely to be solely responsible for clinical autistic behaviors.

Abnormalities, Multiple↗
PubMed1996

Mental retardation plus macrocephaly in a 16-year-old boy.

The evaluation of mental retardation is a frequent and challenging problem in pediatric neurology. Often clues obtained on history or by physical examination will help to direct the evaluation in the appropriate channel. This 16-year-old boy had clinical features which suggested the appropriate diagnostic studies.

Adolescent↗