Biomedical subjects
Publications and source records attributed to P F Bray.
The neuropathological basis for myoclonic encephalopathy associated with neuroblastoma has never been demonstrated. In our 6-year-old patient, the brain changes were restricted to the cerebellum and consisted of demyelination, gliosis, and loss of Purkinje's cells.
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The clinical courses and serial computerized tomography (CT) scans of four patients with Menkes disease are described. Although the initial clinical presentations were similar, head growth and serial CT scans showed striking individual differences. The CT scans varied from showing no abnormalities early in the disease to showing diffuse cortical atrophy, subdural accumulation of fluid, or multifocal areas of ischemic infarction. The pathologic findings in one patient showed only cerebral and cerebellar atrophy, whereas the findings in another patient showed areas of ischemic infarction, probably secondary to abnormal vessels. Menkes disease should be suspected in male infants with psychomotor deterioration and seizures, or when trauma is suspected from subdural hematoma and multiple fractures.
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Thirteen infants and children with proved gastroesophageal (GE) reflux had complaints that suggested a CNS disorder. Symptoms began in early infancy in ten cases, but accurate diagnosis and proper treatment were not instituted in three cases until three to five years of age. A CNS basis for their disease was suspected because they exhibited specific signs or because the importance of associated gastrointestinal (GL) and respiratory tract symptoms was not appreciated. The presenting CNS symptoms and signs included dystonia in 11, developmental retardation in ten, dysphagia in nine, seizures in six, and extreme irritability in ten. We believe that the diagnosis of symptom-causing GE reflux is being missed regularly. The effects of proper medical or surgical therapy are often dramatic, and the consequences of missed diagnosis or improper treatment are potentially lethal.
We review the records of 153 infants weighing 2,500 gm or less admitted consecutivtly to the University of Utah Medical Center Newborn Intensive Care Unit. Thirty-one (20.2%) infants had seizures and 28 (90%) of these died. In comparison, only 17% (21 of 122) of patients without seizures died. The diagnosis of intraventricular hemorrhage (IVH) was made in 27 (87%) of the seizure patients. These findings differ significantly from those studies in which no distinction was made between the birth weight of neonates with seizures. Anticonvulsant medication had little effect on clinical seizure activity and did not significantly alter the outcome.
This study links a midfacial anomaly in an 8-year-old boy, with underlying bony skull defects and abnormalities of the cerebral vasculature, with an earlier spontaneous miscarriage and the subsequent birth of a frankly anencephalic sibling. We believe that the midfacial and vascular anomalies in the second child could represent a forme fruste of anencephaly, which should alert the physician to monitor subsequent pregnancies for the complete anencephalic phenotype.
A patient with Menkes' kinky hair syndrome was treated with oral CuSO4. Plasma copper, ceruloplasmin, red cell copper, and 24-hr urine copper excretion remained essentially unchanged. Intravenous copper infusion resulted in a rise of serum ceruloplasmin. During administration of a test meal of 64Cu(NO3)2, the patient was given alternately a volume of 0.9% NaCl or an equal volume of plasma intravenously. Radioactivity found in the blood was unchanged after each infusion period. During 427 days of subcutaneous copper, plasma p-phenylenediamine oxidase activity and plasma copper rose toward normal. Subsequent balance studies showed that the patient was in negative copper balance because of large losses in feces. Scanning electron microscopy demonstrated persistent pili torti.
A serum/cerebrospinal fluid (CSF) ratio method was used to determine whether elevated CSF vaccinia antibody titers in some patients with multiple sclerosis are the result of central nervous system antibody synthesis or of a leak in the blood-brain barrier. Nine of 20 multiple sclerosis patients were noted to have a depressed serum/CSF vaccinia antibody ratio and a normal ratio for poliovirus-I, an agent thought not to be involved in the pathogenesis of multiple sclerosis. These data suggest central nervous system synthesis of vaccinia neutralizing antibody. Vaccinia virus antigens may play an important direct or indirect role in the pathogenesis of multiple sclerosis.
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A newborn baby girl with progressive hydrocephalus and congenital defects of the skin and eyes was born to a mother who experienced bilateral bronchopneumonia in her first trimester. At the time of her infection, the mother's serum cold agglutinin titer was 1:128 and at delivery the mother's and baby's serum samples had complement-fixation titers to Mycoplasma pneumoniae of 1:1,024 and 1:256, respectively. At 1 week of age the baby's serum IgM value was 44 mg/100 ml (98% of cord IgM values in normal newborns range from 0 to 20 mg/100 ml). The baby died of progressive hydrocephalus, which may have had an inflammatory basis in view of the cerebrospinal fluid (CSF) protein level of 192 mg/100 ml. We realize that the significance of this association is questionable, but we believe that it is worthwhile to call the coincidence of events to the attention of others.
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Attention is directed to the potential danger of therapy with haloperidol in children. Its value in reducing the excessive movements of Sydenham chorea must be weighed against the usual tendency of this disorder to remit spontaneously and the occasional tendency of the drug to cause castastropic adverse reaction