Basal ganglia calcifications in a case of biotinidase deficiency.

Biotinidase deficiency leads to a biotin-deficient state, with cardinal symptoms of ataxia, alopecia, and skin rash presenting in infancy. Previous reports of head CTs in patients with biotinidase deficiency did not note basal ganglia calcifications. We report the first case of biotinidase deficiency with basal ganglia calcifications. There were no symptoms referable to basal ganglia dysfunction.

Strokes in children due to vertebral artery trauma.

Strokes due to vertebral artery lesions are rare in children. We describe three new patients and compare them with the 16 other patients described in the literature. All of these patients are boys. Traumatic vertebral artery lesion at C1-2 level was the most common cause of stroke, and the prognosis for neurologic recovery was good. We suggest that vertebral artery disease be considered in boys with posterior circulation ischemia.

Encephalocraniocutaneous lipomatosis.

Two patients with encephalocraniocutaneous lipomatosis have been studied. The main features of the syndrome are unilateral cutaneous and ophthalmologic lesions with ipsilateral cerebral malformations. Seizures beginning in infancy and varying degrees of mental retardation are present in affected patients. The involved tissues are derived from the embryonic ectodermal and mesodermal layers.

Studies with antisera against peripheral nervous system myelin and myelin basic proteins. II. Immunohistochemical studies in cultures of rat dorsal root ganglion neurons and Schwann cells.

Antiserum against rat peripheral nervous system (PNS) myelin contained immunoglobulins which bound preferentially to the extracellular surfaces of myelin-related Schwann cells in intact cultures of dorsal root ganglion (DRG) neurons and Schwann cells, while antiserum against basic protein (BP) from central nervous system myelin or the PNS basic protein P2 did not. We demonstrate the presence of PNS myelin proteins P1 (identical to BP) and P2 by immunoperoxidase techniques in DRG cultures that had been treated to disrupt cellular membranes. These observations suggest that P1 and P2 are not exposed on the extracellular surfaces of myelin-related Schwann cells in culture. The results also support the hypothesis concerning the possible mechanisms by which anti-PNS myelin serum demyelinates DRG cultures, while anti-BP serum and anti-P2 serum do not.

Studies with antisera against peripheral nervous system myelin and myelin basic proteins. I. Effects of antiserum upon living cultures of nervous tissue.

We studied the effects of antiserum against rat peripheral nervous system (PNS) myelin, rat or chicken central nervous system myelin basic protein (BP), or rabbit P2 protein from PNS myelin on myelinated cultures containing only rat dorsal root ganglion neurons and Schwann cells. While anti-PNS myelin serum consistently produced segmental PNS demyelination, anti-BP serum and anti-P2 serum did not. The culture results suggest that the myelin PNS proteins P1 (identical to basic protein from central nervous system myelin) and P2 are not exposed on the extracellular surfaces of myelin-related Schwann cells in tissue culture.

Acute effect of glycerol on net cerebrospinal fluid production in dogs.

The effect of glycerol administration on cerebrospinal fluid (CSF) formation in dogs was studied by means of a ventriculocisternal perfusion technique. Net CSF production rate decreased after oral administration of glycerol (3 gm/kg) from a baseline level of 42.33 +/- 6.68 microliter/min (mean +/- standard error) to a trough of 10.33 +/- 4.88 microliter/min at 90 minutes after administration (p less than 0.025). Serum osmolality concomitantly increased from a baseline value of 296 +/- 2.83 to 309 +/- 4.7 mOsm/kg H2O at 90 minutes. The mean percentage change in CSF production inversely correlated to the mean percentage change in serum osmolality, r = -0.85. Thus, glycerol administration decreases net CSF formation, and this effect may be related in part to the rise in serum osmolality.

Encephalocraniocutaneous lipomatosis.

Encephalocraniocutaneous lipomatosis is a distinct clinical syndrome characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. The cutaneous lesions are confined to the head. The central nervous system lesions consist in part of cerebral hemiatrophy, porencephaly, and defective opercularization of the insula. The intracranial lesions and clinical symptomatology are progressive, and appear, in part, to have a vascular pathogenesis. This suggests that a primary defect in the formation of tissues derived from embryonic mesenchyme may be responsible for the syndrome and that tissues derived from ectoderm may be secondarily affected.

Child neurology: past, present, and future.

The emergence of child neurology as an independent discipline was enhanced by pediatricians developing an organ system approach to the study of illnesses of children and indirectly by their interest in normal psychomotor development, a function of maturation of the nervous system. Technological innovations, advances in neuroimaging, and the development of therapeutic agents directly benefited patients with neurologic disorders and enhanced the role of the neurologist. The American Board of Psychiatry and Neurology was founded in 1934. It formally recognized child neurology as a special area of expertise in 1959 when Sidney Carter was appointed as a director and the clinical examination was changed to include an hour devoted specifically to child neurology. In 1969, special certificates in child neurology were issued. Thirty candidates, or more, have successfully passed the examination each year since then. As of Spring 1995, there had been 1007 certificates issued to child neurologists. In 1991 and 1992, alternative pathways to training in child neurology were developed. These substituted a year of internal medicine or a year of basic neuroscience research for 1 year of pediatrics. Relatively few child neurologists have chosen these alternative pathways. The performance of child neurologists, on Board examinations has generally been comparable to that of adult neurologists with the latter holding a slight edge. In 1990, a study of first-time takers of the certification examination was begun. In child neurology, 54% of the cohort passed both parts I and II on their first attempts, and as of July 1995, 81% of the original cohort was certified. In adult neurology, the comparable rates are 56% and 84%. Accreditation of child neurology training programs began in 1987. As of November 1995, there were 75 accredited child neurology training programs, which offered slightly over 200 total positions. Changes in health care delivery are currently taking place and have placed greater emphasis on primary care physicians. Proposals have been put forth that, if enacted, will reduce the current number of medical students and also reduce the total number of residents being trained. Reductions as great as 40% of current resident number have been proposed. Child neurology will need to reassess our current work force and training needs and re-evaluate our role in the training of primary care physicians. There appears to be a paradox. Explosions of information in both the basic and clinical neurosciences have directly benefited our patients, but yet our continued growth as a subspecialty is being challenged.

Update on bacterial meningitis.

Recently, advances in identifying the etiologic agent, improving antibiotic therapy, and understanding the pathogenesis of complications of bacterial meningitis have been made. The acute and long-term sequelae and their courses have been documented. Acridine orange staining of the cerebrospinal fluid may identify bacteria in children with partially treated meningitis when gram-staining is not helpful. Monoclonal antibodies for meningococcus group B antigen have been developed and may prove useful for testing cerebrospinal fluid. Several newer cephalosporins have been shown to have excellent in vitro activity against the bacteria commonly associated with meningitis. They are indicated in the treatment of infants between 4 and 8 weeks of age, children in septic shock, children with liver disease, and children with infection with gram-negative enteric agents or bacteria resistant to ampicillin and chloramphenicol. Vasculitis and cerebral infarction may result in some of the complications, such as seizures and hemiparesis, noted in children, and their consequences can be documented by various neuroimaging procedures. The prognosis for ataxia is good, while that for sensorineural deafness is poor. The majority of children will have neither intellectual deficits nor difficulty with academic achievement. An effective vaccine against Haemophilus influenzae type b has been developed and is recommended for children between 18 and 60 months of age.

Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome.

An infant with a Sturge-Weber variant syndrome developed progressive megalencephaly and eventual hydrocephalus, which required shunting. Cerebral angiography revealed absence of the deep cerebral venous system and the development of abnormal drainage channels via the periorbital veins. It is postulated that the abnormal enlargement of the brain was due to the impaired venous return. Resistance of the brain to continued expansion may have caused an increase in hydrostatic pressure and the development of hydrocephalus.

Multicore myopathy, microcephaly, aganglionosis, and short stature.

Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. We report an unusual case of multicore myopathy with an expanded clinical syndrome involving the central nervous system, as well as additional congenital malformations. Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.

Neck-tongue syndrome.

Two patients with neck-tongue syndrome, a rare disorder of the upper cervical nerves that results in paroxysmal neck pain and paresthesia of the tongue, are described. Signs are the result of compression of the C2 root by disorders affecting the first two cervical vertebrae. Conservative management is effective in most cases if no masses are in the involved area. The disorder has been observed rarely in children. Clinical onset occurred at 6 and 11 years of age, respectively, in the reported patients.

Cerebellar hemorrhage in the term neonate: developmental and neurologic outcome.

To elucidate the effects of cerebellar hemorrhage on the term neonate, neurodevelopmental assessments were conducted at a mean age of 32 months on six children. In addition to cerebellar hemorrhage, ventriculomegaly was present on each subject's initial computed tomographic scan. All were managed without surgical evacuation. Two patients required shunts for progressive ventriculomegaly. Five patients had follow-up computed tomography indicating mild atrophy of the superior anterior vermis of the cerebellum; however, none had abnormal ventricular size or abnormalities of the cerebrum. On detailed examination conducted between the ages of 18 and 48 months, five had hypotonia, truncal ataxia, and intention tremor; two had nystagmus. Only one patient walked independently. Intellectual performance of four patients was within the retarded range and two had mildly delayed development. Two patients had markedly disordered expressive language. These data suggest that term neonates surviving cerebellar hemorrhage have neurologic deficits related to the site of hemorrhage, and cognitive deficits related to more generalized cerebral insult.

Density effects in population growth: an exploration.

In this paper a heuristic approach is taken to the investigation of density effects in population growth when the limiting factor is food resources. Explicit modeling of resource dynamics lets us to distinguish between density effects that are due to the diminution of the available resources, from density effects arising from direct interference among individuals. While species specific growth dynamics should vary extensively, it is possible to postulate some properties of hopefully, general applicability. This work examines the consequences of three postulates: (a) no growth occurs in the absence of resources; (b) the per capita growth rate increases with available resources; and (c) intraspecies interference competition causes the per capita growth rate to decrease as population density increases. Using these three postulates, I have constructed generalized functional description for each type of density dependence. These functions let us examine interspecies competition in class specific terms. The results indicate that intraspecies interference confers significant advantages in interspecies competition for long term occupation of ecological niches.