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Biomedical subjects

I J Butler

Publications and source records attributed to I J Butler.

At least 37 records · Page 2Linked to original sources
PubMed1994

D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.

D-2-Hydroxyglutaric aciduria was documented in a newborn who presented with seizures, hypotonia, cortical blindness, a movement disorder, and developmental delay. Her clinical presentation differs from that of patients with L-2-hydroxyglutaric aciduria and a single previously reported patient with D-2-hydroxyglutaric aciduria. Cerebrospinal fluid levels of gamma-aminobutyric acid were elevated, while biogenic amine metabolites were normal. The movement disorder in our patient and in those with L-2-hydroxyglutaric aciduria suggests involvement of the basal ganglia in the disease process. Prenatal diagnosis of an affected fetus was accomplished during a subsequent pregnancy.

Basal Ganglia Diseases↗
PubMed1994

Neuropsychological characteristics of children with Tourette syndrome: evidence for a nonverbal learning disability?

In this study the neuropsychological characteristics of thirty-one 6 to 16-year-old children with Tourette Syndrome (TS) were compared to 20 normal siblings and 10 children with arithmetic disabilities (AD) who were comparable in age and socioeconomic status. Unlike the sibling group, neuropsychological profiles of the TS and AD groups were expected to reflect nonverbal learning disabilities (NLD). The three groups performed generally within the average range on academic and cognitive measures. Like the AD children, the TS group demonstrated poorer performance on written arithmetic tasks with comparatively better word reading and written word spelling. Unlike the AD group, who demonstrated generalized nonverbal deficiencies, children with TS demonstrated reduced performance on visual-motor and expressive language measures as well as measures of complex cognition. These results are suggestive of an "output" subtype of learning disability and support theories that implicate the mesocortical dopaminergic system in the pathophysiology of TS.

Adolescent↗
PubMed1993

Proton magnetic resonance imaging and spectroscopic studies of the pathogenesis and treatment of juvenile dermatomyositis.

Juvenile dermatomyositis is an inflammatory disorder of muscle, skin, and connective tissue. Immune vasculopathy is central to the pathophysiology. We studied a 13-year-old boy with juvenile dermatomyositis using proton magnetic resonance imaging (MRI) with short tau inversion recovery (STIR), and proton magnetic resonance spectroscopy (MRS) to quantitate lipid and water in affected regions of muscle. Tissue perfusion was assessed by measuring tissue water concentration changes during isometric exercise of the tibialis anterior muscle. During sequential studies over 3 months of steroid treatment, STIR image abnormalities, resting water concentrations, and diminished perfusion returned to normal. Resting lipid concentrations increased during this period. MRI serves to guide muscle biopsy and monitor progress of the disease state. MRS demonstrates the vasculopathy and provides noninvasive assessment of steroid therapy in juvenile dermatomyositis.

Adolescent↗
PubMed1993

Rapid-onset dystonia-parkinsonism.

We studied a large family with a previously undescribed, autosomal dominant dystonia-parkinsonism syndrome. We chose to call the disorder "rapid-onset dystonia-parkinsonism" (RDP) based on the unusually rapid evolution of signs and symptoms. Affected individuals developed dystonia and parkinsonism between 14 and 45 years of age. The onset was acute in six individuals with the abrupt onset of symptoms over the course of several hours, and subacute in four others who had evolution over several days or weeks. Thereafter, progression of symptoms was usually very slow. Two had intermittent focal dystonia without parkinsonism, and one obligate gene carrier was asymptomatic at 68 years. CSF levels of homovanillic acid were decreased in the two individuals tested, but dopaminergic therapy provided only slight benefit. The DYT1 gene responsible for early-onset, generalized idiopathic torsion dystonia in Jewish and some non-Jewish families has been mapped to chromosome 9q34. Linkage analysis with three markers near the DYT1 gene showed several obligate recombinations, excluding DYT1 as a candidate gene for RDP. We believe RDP is unique and should be classified separately from other forms of hereditary dystonia-parkinsonism.

Adolescent↗
PubMed1992

A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors.

We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle weakness and fatigability unresponsive to acetylcholinesterase (AChE) inhibitors. Repetitive nerve stimulation showed a significant compound muscle action potential (CMAP) area decrement at 2 or 3 Hz. Nerve conduction studies and concentric needle electromyography were normal, and repetitive CMAPs to single nerve stimulation were not observed. Voluntary single fiber electromyography (SFEMG) showed increased jitter and blocking. Assessment of individual end-plates using SFEMG with intramuscular axonal microstimulation showed no uniform relationship between jitter and the rate of stimulation, consistent with a postsynaptic defect of neuromuscular transmission. Edrophonium eliminated the decremental response to repetitive nerve stimulation, but caused no significant clinical improvement, suggesting an additional mechanism for weakness in these patients.

Adult↗
PubMed1992

Movement disorders of children.

Abnormal movements occur in many of the neurologic disorders affecting children and in certain conditions are the presenting major manifestations. In children abnormal movements may be transient and benign and do not necessarily indicate a progressive degeneration of the central nervous system. Clinical observations and appropriate laboratory investigation will frequently lead to a neurologic diagnosis that in many instances will respond to specific pharmacologic treatment.

Child↗
PubMed1992

Persistent unilateral tibialis anterior muscle hypertrophy with complex repetitive discharges and myalgia: report of two unique cases and response to botulinum toxin.

Unilateral enlargement of the tibialis anterior muscle associated with complex repetitive discharges occurred over several months in two patients and was preceded by pain and numbness in the lower leg. Neuroradiologic investigations excluded a compressive radiculopathy, but pharmacologic and neurophysiologic studies suggested a neurogenic basis for the muscle hypertrophy. Botulinum toxin A injection into the hypertrophied muscles led to a decreased muscle volume and cessation of muscle pain.

Adult↗
PubMed1992

Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair.

Child↗
PubMed1991

Proton magnetic resonance spectroscopic studies of hypertrophied muscle. Effect of botulinum toxin treatment.

In vivo image-guided localized proton magnetic resonance spectroscopy (MRS) studies have been performed in a patient with hypertrophied tibialis anterior (TA) muscle and following two injections of botulinum toxin into the affected muscle. Prior to treatment, lipid levels in hypertrophied muscle were found to be low compared to normal. Lipid levels were observed to approach control levels after the second injection. Three months following treatment the trend in exercise-induced changes in lipids was observed to be similar between the hypertrophied and normal TA muscle. This preliminary report demonstrates the potential clinical utility of MRS in evaluating patient response to medical treatment.

Adult↗
PubMed1990

Cerebrospinal fluid studies in the Rett syndrome: biogenic amines and beta-endorphins.

The etiology of the Rett syndrome (RS) is unknown. Reduced function of biogenic amines has been described. Symptoms of central apnea, hyperventilation, hypothermia, peripheral analgesia, muscle rigidity, myoclonic jerks, hand stereotypy and seizures occur in RS and have been suggested as a result of elevated central beta-endorphins. It was hypothesized that a dysfunctional modulation of endogenous opiate systems and biogenic amines may be present. Cerebrospinal fluid (CSF) from 12 girls with RS was studied for beta-endorphin immunoreactivity, and biogenic amines. Lactates and pyruvate levels were measured. Eleven of the 12 girls had elevated beta-endorphin immunoreactivity in CSF, 4 girls had reduced biogenic amines and 6 girls had elevated pyruvate and lactate levels. Whether the elevated beta-endorphin immunoreactivity is a primary disorder or is a result of secondary feedback mechanisms is unknown. Naltrexone, an antiopioid drug, may reduce symptoms.

Adolescent↗
PubMed1990

Proton magnetic resonance of exercise-induced water changes in gastrocnemius muscle.

Exercise-induced water concentration changes have been determined in the medial gastrocnemius muscle noninvasively with image-guided in vivo proton magnetic resonance spectroscopy (MRS). These measurements were performed on seven normal male volunteers during and after isometric and ischemic-isometric exercise at 5, 10, and 20% maximum voluntary contraction (MVC). The observed water flux changes during different phases of exercise have been interpreted in terms of fluid transfer between the vasculature and exercising muscle. Good correlation between individual MVC and changes in water fluxes and the decay of water content was observed after 20% MVC exercise level. MRS results have been found to be consistent with those reported in the literature based on invasive biopsy techniques.

Adult↗
PubMed1990

Neurologic morbidity associated with achondroplasia.

Neurologic morbidity has long been appreciated in adults with achondroplasia and has recently been recognized to be common in children. Neurologic complications result from bony stenosis involving the entire vertebral column and the base of the skull. These complications are reviewed with special attention to the findings in children.

Achondroplasia↗
PubMed1989

Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome.

We evaluated cerebrospinal fluid biogenic amine metabolites in 32 patients with Rett syndrome. Significant reductions were noted in the metabolites of norepinephrine, dopamine, and serotonin, as compared with controls of similar age (p less than 0.001, p less than 0.001, and p less than 0.05, respectively). Tetrahydrobiopterin is an essential cofactor and may be rate-limiting for the synthesis of catecholamines and serotonin. Accordingly, total cerebrospinal fluid biopterin was measured and found to be elevated in patients compared with controls (p less than 0.002). These findings constitute the only biochemical changes detected in Rett syndromes so far.

Adolescent↗
PubMed1989

Neurological deterioration in adult phenylketonuria.

A 28-year-old man with classical phenylketonuria had increased seizure frequency and rapidly progressive spasticity. There was a marked reduction of biogenic amine neurotransmitter metabolites in cerebrospinal fluid. Dietary therapy reduced serum phenylalanine levels, improved symptoms of hypertonicity, and cerebrospinal fluid neurotransmitter metabolites became normal. An adolescent male with classical phenylketonuria, treated by dietary restriction until age 6 years, was assessed for decreasing school performance at 18 years. Cerebrospinal fluid biogenic amine neurotransmitter metabolites were significantly reduced. Magnetic resonance imaging in both subjects showed multiple areas of increased signal intensity in cerebral white matter. Neuropathological changes in classical phenylketonuria have been characterized as a dysmyelinating or demyelinating process. Neurochemical studies show a defect in brain lipids and biogenic amine metabolism. In the past, dietary therapy was directed at reducing hyperphenylalaninaemia only during the first decade of life. This report, as well as other studies, indicates that dietary therapy should be lifelong in patients with classical phenylketonuria, in order to prevent progressive and insidious neurological deterioration in later life.

Adolescent↗