Gastritis with valproate therapy.

We have identified ten children who developed gastritis after prolonged anticonvulsant therapy that included either valproic acid or divalproex sodium. Presenting symptoms were primarily feeding difficulties, including anorexia and refusal to eat. Vomiting was present in two thirds of the patients, with diarrhea, weight loss, and abdominal pain occurring less frequently. Occult blood in stool samples was a late development. All patients responded to therapy with H2-receptor antagonists, oral antacids, or both, with prolonged treatment often necessary to prevent relapse. Although gastrointestinal tract side effects are common with the initiation of valproate sodium therapy, feeding difficulties after long-term treatment are less common. Gastritis should be suspected in children receiving valproate therapy when feeding difficulties arise, particularly if the symptoms are persistent or recurrent.

Infantile spasms.

Infantile spasms are a seizure disorder in young infants with diverse etiologies, suggesting that they arise from any disturbance of central nervous system function during susceptible periods of development. The prognosis for normal intellectual and neurologic development parallels that of the underlying etiology. Early and appropriate treatment with ACTH may lead to seizure control in a majority of patients. The treating physician must anticipate the side effects of this modality.

'Benign' familial neonatal convulsions.

Nine family members over five generations are described in whom convulsions occurred in the first week of life. Routine studies, including cranial computed tomography and electroencephalography, failed to reveal an etiology in the proband, nor was a specific etiology ever found in other affected family members. All affected individuals developed normally. Three had recurrent seizures outside the first year of life. This condition is of particular importance to those who care for infants with seizures. An appropriate family history should obviate the need for unnecessary diagnostic tests as well as prolonged anticonvulsant therapy, but counseling regarding the increased risk of subsequent seizures should be provided to affected individuals.

The treatment of infantile spasms by child neurologists.

Infantile spasms is a refractory seizure disorder for which a number of different treatment regimens are available. No information is available on which treatment regimens are most widely used and which would be of practical importance in designing clinical trials to determine efficacy of new treatments. We proceeded to gather data on the most commonly employed methods of treating infantile spasms. A survey was mailed in 1991 to all junior, active, and emeritus members of the Child Neurology Society asking details about the treatment of infantile spasms. Telephone follow-up on a random sample of nonresponders was made. The total response rate was 58.3%. Most respondents who treat infantile spasms use corticotropin (ACTH) as their drug of first choice (88%). The most frequently used dosage was 40 IU per day, and the most frequent duration of treatment was 1 to 2 months. The most frequently reported side effects of ACTH or oral corticosteroid treatment were cushingism, behavior changes or irritability, hypertension, topical infections, and systemic infections. Of those not using ACTH, valproic acid was the next most commonly employed agent, followed by oral corticosteroids. The results were similar for all respondents regardless of age, sex, type of practice, number of cases of infantile spasms seen, location (United States or abroad) or whether the survey was completed by mail or telephone. These data suggest that there is a relative uniformity among child neurologists in the management of infantile spasms despite the publication of many alternative treatment strategies.

Maternal-fetal HLA sharing and risk of newborn encephalopathy and seizures: a pilot study.

A pilot case-control study was done to collect data on whether susceptibility to newborn encephalopathy and neonatal seizures is influenced by the degree of maternal-fetal sharing of HLA antigens. Cases included 13 infants with moderate or severe newborn encephalopathy and seven infants with neonatal seizures but no other signs of encephalopathy. Controls were neurologically normal infants matched to cases by date of birth, sex, race, and payment status. Infants and their mothers were typed for HLA-A, -B, -DR, and -DQ antigens. The observed frequency of sharing of maternal antigens was greater than expected (ie, 0.5) for cases compared to controls at the HLA-B, -DR, and -DQ loci but not for HLA-A. The risk of neurologic problems in the neonatal period was increased 6.3 times when there was more than one match at the HLA-DR or -DQ locus. Placental abnormalities were noted at delivery only among cases, and the mean placental weight in cases was 598 g versus 695 g in controls. Further studies with sample sizes sufficiently large to statistically test this hypothesis are needed.

Parainflammatory leukoencephalomyelitis: clinical and magnetic resonance imaging findings.

Parainflammatory leukoencephalomyelitis is a broad term used to include the spectrum of disorders that affect the central nervous system following infection, immunization, or other noxious stimuli. There is a wide range of clinical and pathologic severity, ranging from acute cerebellar ataxia to acute hemorrhagic leukoencephalopathy. With the improved survival of these patients, magnetic resonance imaging provides a window to the pathologic process, which can aid in the long-term management of these patients. Although lesions of the brainstem and spinal cord correlate well to clinical symptoms, multiple cortical lesions may be present without specific localizing signs. The distribution of magnetic resonance lesions is different from that commonly seen in multiple sclerosis. In some cases, prolonged immunosuppression may be required to prevent recrudescence of the inflammatory response.

Neuroimaging findings in Alexander's disease.

We present the findings from magnetic resonance imaging, computed tomographic scan, and single photon emission computed tomography of the brain in a 2-year-old girl with Alexander's disease. Computed tomographic scans showed prominent low-density white matter throughout the cerebral hemispheres. Magnetic resonance imaging showed increased T2 signal from the cerebral white matter but not the cerebellum or brain stem. Single photon emission computed tomography revealed diminished cerebral metabolism, particularly in the frontal regions, as compared with the cerebellum.

Selective type II muscle fiber hypertrophy in severe infantile spinal muscular atrophy.

The diagnostic muscle biopsy finding in severe infantile spinal muscular atrophy (Werdnig-Hoffmann disease, SMA type 1) is considered to be large-group atrophy with isolated clusters of hypertrophic type I myofibers. We present a unique case of severe infantile spinal muscular atrophy with selective hypertrophy of type II myofibers. A male infant presented at age 2 months with breathing difficulties and by age 4 months was hypotonic and weak. Electromyography revealed denervation in all extremity muscles, and nerve conduction velocities were normal but with small compound muscle action potentials. Quadriceps muscle biopsy revealed many hypertrophied type II myofibers (myofibers with a mean least diameter of 25.4 microns). In contrast, the largest type I myofibers were 20 microns in least diameter (mean diameter, 14.9 microns), and there was a normal-size population of type II fibers (mean diameter, 15.7 microns). In addition, sheets of atrophic type I and type II fibers averaged 2.0 microns in least diameter. Sural nerve biopsy was normal. Breathing difficulties progressed, with death ensuing at age 5 1/2 months. Autopsy revealed atrophy of ventral spinal roots with normal dorsal roots. There was loss of anterior horn cells, while remnant neurons were reduced in size. No other pathologic changes were identified. This case indicates that in severe infantile spinal muscular atrophy, relative sparing of the motor units with type II myofibers may occur.

Subacute encephalopathy in a 5-year-old boy.

A 5-year-old boy presented with an acute ataxia and altered mental status. Although he initially recovered from these symptoms, he presented a second time with myoclonus and seizures and rapidly became vegetative. Cerebrospinal fluid studies, magnetic resonance imaging, and brain biopsy all confirmed the presence of subacute sclerosing panencephalitis. Despite courses of therapy with cimetidine, amantadine, ribavirin, and inosine, no clinical improvement has been seen. Clinicians need to be alert to the possibility of subacute sclerosing panencephalitis even in the vaccinated child in the appropriate clinical setting.

Electrodiagnosis of compressive nerve lesions.

Electrodiagnostic studies provide valuable information that can be a useful adjunct to careful clinical evaluation in the diagnosis of compression neuropathy. Such studies can also help to predict the outcome of treatment and differentiate nerve injuries amenable to successful surgical intervention.

Hypertrophic cardiomyopathy during corticotropin therapy for infantile spasms. A clinical and echocardiographic study.

OBJECTIVE: To evaluate the incidence and clinical features of abnormal cardiac hypertrophy during treatment of infantile spasms with corticotropin. DESIGN: A prospective, echocardiographic study. PARTICIPANTS: Eighteen children treated for infantile spasms with high-dose corticotropin at a large tertiary children's hospital. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Abnormal cardiac hypertrophy was seen in 13 (72%) of 18 patients. Five of 18 patients (group 1) developed hypertrophic cardiomyopathy with asymmetric septal hypertrophy; none developed significant left ventricular outflow obstruction. Concentric left ventricular hypertrophy was seen in eight patients (group 2), whereas no changes were observed in five (group 3). CONCLUSION: Abnormal ventricular hypertrophy occurs in the majority of patients treated with corticotropin for infantile spasms. In our study, many of these patients developed hypertrophic cardiomyopathy with dramatic asymmetric septal hypertrophy; however, none developed significant obstruction to left ventricular outflow. All changes were reversible, and did not require premature discontinuation of therapy.

Esthesioneuroblastoma presenting as an orbital mass in a young child.

A 3-year-old boy presented with uniocular proptosis and ophthalmoplegia. Investigation revealed a mass involving the right orbit with extension into the left orbit and paranasal sinuses, and intracranial extension involving both frontal lobes. Biopsy of an enlarged cervical node and the intranasal mass revealed esthesioneuroblastoma. This tumor has been reported rarely in a child this age, and only 12 case reports document patients under 10 years of age. The presentation as an orbital mass is previously unreported and must now be considered in the differential diagnosis of proptosis in childhood. The usual clinical, radiological, and pathological features of olfactory esthesioneuroblastoma are reviewed.

Infantile botulism.

We present the first two known cases of infantile botulism in Oklahoma. The first case was due to type B toxin; the second was due to type A toxin. Both cases demonstrate most of the classic features of what now appears to be the most common form of botulism. Infantile botulism is an underrecognized but reversible cause of hypotonia. In most cases, the prognosis is excellent with institution of appropriate supportive care. The recognition of cranial nerve palsies or a history of constipation should raise the suspicion of infantile botulism. Aminoglycoside antibiotics and other agents that may precipitate or exacerbate neuromuscular blockade should be used with extreme caution in hypotonic infants until the cause of the hypotonia is clearly identified.