Fusiform basilar artery aneurysm in a child.

A giant fusiform aneurysm of the basilar artery was present in a 10-year-old boy with a 2-year history of intermittent headaches and the acute onset of neurologic signs. Elevated sedimentation rate, cerebrospinal fluid pleocytosis, and an apparent response to corticosteroid therapy suggest a chronic inflammatory vascular process. The uniqueness of this aneurysm in a child and the possible underlying arteriopathies are discussed.

Familial sensory autonomic neuropathy with arthropathy in Navajo children.

Eight Navajo children had a neuropathy characterized by Charcot's joints and unrecognized fractures. Their reflexes were intact and they had normal strength. The sensory examinations in the group were variable. Many had no discernible sensory deficit. Others had subtle deficiency in deep pain sensation, temperature discrimination, and corneal sensitivity. Electromyography and nerve conduction velocities were normal in the seven studied; however, sural nerve biopsy revealed a marked reduction in small myelinated and unmyelinated nerve fibers. This sensory neuropathy, which we call "Navajo familial neurogenic arthropathy," differs from the acromutilating sensory neuropathy previously described by Appenzeller et al in Navajo children. It also differs clinically from a number of previously reported cases of hereditary sensory autonomic neuropathies in non-Navajos. The disorder in these eight children emphasizes the usefulness of pathologic investigation of the sural nerve in patients with Charcot's joints with minimal or no other neuropathic signs.

Magnetic resonance imaging in pathologically proven Hallervorden-Spatz disease.

We present an 11-year-old girl in whom high field strength MRI performed 2 1/2 years and 6 months before her death showed prominent hypointensity in the globus pallidus and substantia nigra consistent with iron deposition. This finding suggested Hallervorden-Spatz disease, which was confirmed at autopsy.

Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype.

We studied dystrophin in three young girls with a sporadic myopathy of early onset, manifested by mild to severe limb weakness, calf hypertrophy, high serum creatine kinase, normal karyotype, and morphologic features in muscle consistent with muscular dystrophy. DNA analysis did not reveal a deletion of the dystrophin gene. Immunohistochemical studies of dystrophin in muscle biopsies showed a mosaic of fibers with and without dystrophin, and immunoblot analysis showed partial dystrophin deficiency in all three patients, more severe in the patient with the highest proportion of dystrophin-deficient fibers. These observations suggest that the patients are Duchenne muscular dystrophy carriers. The data also support the concept that uneven lyonization in muscle is responsible for the clinical myopathy in these patients. We suggest that any girl with sporadic proximal limb weakness should be evaluated as a possible Duchenne carrier by dystrophin studies.

Neuropathy in Navajo children: clinical and epidemiologic features.

We describe a rare and apparently unique neuropathic syndrome among Navajo children living on the Navajo Reservation. Clinical features include sensorimotor neuropathy, corneal ulcerations, acral mutilation, poor weight gain, short stature, sexual infantilism, serious systemic infections, and liver derangement including Reye's syndrome-like episodes. Progressive CNS white matter lesions were diagnosed through magnetic resonance imaging. We identified 20 definite and 4 probable cases occurring between 1959 and 1986. Mean age at the time of 1st recognized symptom was 13 months (range, 1 month to 4 years 6 months). Ten individuals have died; 6 of the deaths occurred before 5 years of age. The incidence of this syndrome on the western Navajo reservation is 5 times higher than that on the eastern reservation (38 compared with 7 cases per 100,000 births). Although the etiology is unknown, this syndrome is consistent with an inborn error of metabolism, inherited in an autosomal recessive manner.

Prednisone therapy in Becker's muscular dystrophy.

Two boys with Becker's muscular dystrophy had a dramatic and sustained improvement in strength with therapeutic use of pred nisone. Both had documented Xp-21 defects on DNA testing. Concurrently with improvement, there was a decrease in their serum creatine kinase levels. One patient had two muscle biopsies, the first before prednisone treatment and the second during treatment. Both biopsies demonstrated an immunoblot decrease in the quantity of muscle dystrophin. Routine histology on the first biopsy was consistent with muscle dystrophy, and the second biopsy was normal. These two patients suggest that a small percentage of patients with Becker's muscular dystrophy have a dramatic and sus tained improvement in strength with the use of therapeutic corticosteroids. All patients with Becker's muscular dystrophy should be given a careful trial of prednisone to define those who benefit.

Subtle encephalomyelitis in children: a variant of acute disseminated encephalomyelitis.

Four children with chronic, mild, nonspecific symptoms are described in whom magnetic resonance imaging (MRI) showed the presence of multifocal white-matter lesions suggestive of acute disseminated encephalomyelitis. The children ranged in age from 14 months to 15 years. The clinical picture was vague and inconclusive and consisted of several months of headaches, irritability, clumsiness, and personality change. Physical examinations were noncontributory. Laboratory investigation revealed no other cause of the demyelination. All of the patients have done well without any treatment, with a disappearance of symptomatology. The white-matter lesions on MRI scan in these children may indicate subtle exposure to a myelinolytic antigen. It has been suggested that such an exposure may create a state of complete or partial resistance to the encephalitogenic potential of the next infection or immunization. With complete resistance, the patient remains healthy and with partial resistance progressive demyelination results. Verification of these findings by others would suggest a possible benefit of a multicenter study of such patients, with virological, HLA testing, and long-term follow-up, in understanding the etiopathogenesis of multiple sclerosis.

Some important pitfalls in the diagnosis and treatment of bacterial meningitis in children.

Some of the common errors and problems of the physician who cares for the child with bacterial meningitis are: 1) misdiagnosis; 2) inappropriate handling of cerebrospinal fluid; 3) inadequate assessment of therapeutic responses; 4) inappropriate drug therapy; 5) improper treatment of seizures; 6) inadequate care of increased intracranial pressure; 7) inappropriate evaluation of persistent fever; 8) inappropriate fluid therapy; 9) inadequate investigation of persistent neurologic deficit; 10) overvigorous treatment of subdural effusion; 11) inadequate assessment of neurologic or psychologic impairment; and 12) inadequate consideration of possible underlying defects.

Velocity prediction in corrective saccades during smooth-pursuit eye movements in monkey.

It has been noted in a variety of studies in both humans and monkeys that saccades made during smooth pursuit eye movements are usually quite accurate. Since saccades are known to be planned on the basis of neuronal information existing at some interval of time before the actual onset of the movement, it is generally accepted that some sort of prediction or use of visual motion velocity is combined with static position error in the execution of these saccades to moving targets. However, statistical treatment of this response in humans has provided evidence for alternative mechanisms, including a strategy of saccading ahead in the direction of target motion without any incorporation of actual speed information about target motion in the response. We reinvestigated this question quantitatively in the monkey on a large data base of saccades. We found evidence that supports the hypothesis that information about target speed per se is used in this species in the production of saccades to moving targets. Multiple linear regression analysis supported the hypothesis that information about the position error and the target velocity that exists at about 100 ms prior to the saccade onset are both required to provide a statistical explanation of saccade size during pursuit eye movements under the conditions of our experiments.

Local cerebral blood flow as assessed by xenon stable computed tomography in child drowning.

A comatose patient who nearly drowned was studied with xenon stable computed tomography (CT) to assess regional cerebral blood flow (rCBF) after a basic CT studied revealed bilateral lucencies in the basal ganglia. Xenon stable CT revealed increased rCBF in the lucent areas of the basal ganglia and previously unsuspected absence of flow in the posterior circulation. Xenon stable CT may be a more sensitive indicator of ischemic cerebral damage than basic CT.

Cytochrome c oxidase deficiency in Leigh syndrome.

We studied 6 mitochondrial enzymes in crude extracts and isolated mitochondria from 5 children with pathologically proven subacute necrotizing encephalomyelopathy (Leigh syndrome). Samples were taken from brain (5 patients), skeletal muscle (4 patients), liver (4 patients), kidney (4 patients), heart (1 patient), and cultured fibroblasts (3 patients). An isolated defect of cytochrome c oxidase (COX) activity was found in brain (decrease of activity to 15 to 39% of the normal mean), muscle (9 to 20%), kidney (1 to 67%), and in the 1 available heart (4%) from a patient with cardiopathy. COX activity was also decreased in liver of 3 patients (2 to 13% of normal) and in cultured fibroblasts of 2 patients (18 and 27%), but it was normal in both liver and fibroblasts from 1 patient. Immunotitration using polyclonal antibodies against human heart COX showed essentially normal amounts of cross-reacting enzyme protein in various tissues from different patients. Electrophoresis of COX immunoprecipitated from brain mitochondrial extracts showed normal patterns of COX subunits in 2 patients. This study confirms the theory that COX deficiency is an important cause of Leigh syndrome.