Visual and somatosensory evoked potentials in vitamin E deficiency with cystic fibrosis.

Patients with cystic fibrosis (CF) and pancreatic malabsorption frequently have vitamin E deficiency. Affected patients may develop spinocerebellar degeneration with dysarthria, ataxia, proximal weakness, proprioceptive loss and areflexia. Of a highly selected group of 10 patients with vitamin E levels below 5 micrograms/ml (normal 5-20 micrograms/ml), 7 had abnormal neurological examinations, predominantly affecting vibration and joint position perception with some severely affected patients manifesting diminished visual acuity, tremor, ataxia and diffuse weakness. Evoked potential studies showed marked abnormalities in 3 patients, demonstrating deficits in the optic pathways and in the cervical cord dorsal column pathways. Evoked potential studies may supplement careful neurological examination in patients with CF before and after supplementation with vitamin E to evaluate their progression and response to treatment.

Hyperdensity on CT after seizure: a pitfall.

A 12-year-old boy had a hyperdense area corresponding to a gyral pattern on an enhanced CT brain scan within 12 hours of his last seizure. The hyperdense area disappeared on a subsequent enhanced CT scan after he was seizure free for about 48 hours. The hyperdense area was in a location (mesial frontal lobe) predicted by the interictal physical exam findings and the seizure type recorded on video-EEG monitoring. We postulate that the CT abnormality was due to transitory increase of regional cerebral blood flow and vascular permeability.

Birth injury-induced glossolaryngeal paresis.

Glossolaryngeal paresis followed a difficult delivery and forceps manipulation and was due to a single extracranial traumatic lesion. Although the laryngeal palsy was suspected, hypoglossal involvement was not initially apparent. Search for additional neurologic insult is warranted when a single birth injury is identified. The glossolaryngeal paresis disappeared by age 6 months.

Efficacy of vincristine and cyclophosphamide in the therapy of recurrent medulloblastoma.

We conducted a Phase II study of combination therapy with vincristine and cyclophosphamide in the treatment of patients with recurrent or metastatic medulloblastoma. Fourteen patients were treated with vincristine 2 mg/m2 (2.0-mg maximal dose) by intravenous bolus on Day 1 and cyclophosphamide 1 g/m2 by intravenous infusion on Days 1 and 2, with cycles repeated every 4 weeks. All 4 patients with extraneural disease (biopsy-proven bony metastases) responded (duration of responses 2+, 6+, 8, and 16+ months) and 4 of 8 evaluable patients with neuraxis disease responded (duration of response 2, 2+, 2+, and 21+ months). Toxicity was limited to neutropenia without any episodes of infection. These therapeutic results compare favorably with other reports of therapy for recurrent medulloblastoma and support the inclusion of vincristine and cyclophosphamide in randomized adjuvant therapy trials of patients with medulloblastoma.

Discontinuing antiepileptic medication in children with epilepsy after two years without seizures. A prospective study.

Antiepileptic medications were discontinued in 88 children with epilepsy of various causes who had been free of seizures for two to four years. The subjects were then followed for six months to five years (mean, 22 months). Sixty-six (75 per cent) remained free of seizures. Electroencephalographic characteristics, type of seizure, and age at onset were important in predicting outcome. Specific electroencephalographic features (such as the presence or absence of slowing or spikes) were more predictive than simple classification of an electroencephalogram as normal or abnormal. A history of complex partial seizures that had been controlled for two years carried a relatively favorable prognosis (P less than 0.05), whereas a history of atypical febrile seizures carried a poor prognosis (P less than 0.05). The variable of a younger age at onset was also associated with a better outcome (P less than 0.05), but only if accompanied by electroencephalographic slowing. Altogether, six variables (the interaction of age at onset with electroencephalographic slowing, electroencephalographic spikes, atypical febrile seizures, complex partial seizures, electroencephalographic slowing, and electroencephalographic change) were statistically significant (P less than 0.05) in predicting outcome. We conclude that in most children with epilepsy who have been free of seizures for two or more years, antiepileptic medications can safely be discontinued, and that it is possible to predict reasonably well which children will remain free of seizures.

Status epilepticus.

Status epilepticus represents a true medical emergency that can affect all age groups. Failure to adequately treat this problem can lead to potentially serious systemic and neurologic complications. Management strategies should include stabilization of the cardiovascular and respiratory status of the patient, use of anticonvulsants intravenously and in proper doses, search for a cause, and maintenance therapy.

Cerebrospinal metastases in malignant childhood astrocytomas.

Over a period of five years, antemortem diagnosis of leptomeningeal spread was made in six of thirteen children with high grade astrocytomas. These included four of seven children with hemispheral tumors and two of six children with malignant brainstem gliomas. Leptomeningeal spread was diagnosed by the clinical picture and CSF profile. Meningeal spread occurred an average of 5 months (range 0-16) after initial diagnosis of tumor was made. Several patients responded well to local radiation and/or chemotherapy. Mean survival after evidence of meningeal spread was 7 months (range 2-16) with one patient still alive. Meningeal spread of malignant childhood astrocytomas appears to be common and should be sought for in these patients as local radiation is beneficial. Serious consideration should be given to a controlled trial of prophylactic craniospinal radiation in three tumors. The role of chemotherapy also requires further study.

Long-term outcome of children with severe head trauma and prolonged coma.

Forty-six children with significant head trauma who remained in coma more than 24 hours were the subjects of this long-term outcome study. Twelve (38%) died. The average length of coma in the 34 survivors was 15.5 days. Follow-up ranged from 9 months to 4 years (mean 21 months). Twenty-nine percent of the survivors were normal at follow-up. An additional 53% had mild cognitive or behavioral problems, but 61% of these had evidence of similar problems prior to the injury. Nine percent of survivors had motor residua but normal intellect. Nine percent had severe intellectual and motor problems. Children less than 2 years of age had a worse outcome. Despite severe injury and prolonged coma after head trauma, most children do well. Intensive medical and surgical care increases the rate of survival and does not result in a large number of severely disabled survivors.

Cisplatin therapy in recurrent childhood brain tumors.

Twenty-two patients with brain tumors were initially treated with surgery, radiation therapy, and/or adjuvant chemotherapy. Histologic diagnosis included 11 gliomas, seven ependymomas, one dysgerminoma, one teratocarcinoma, one pinealoma, and one small cell tumor. At recurrence, documented on computerized tomographic scan, cisplatin (60 mg/m2/day iv X 2) was given every 3-4 weeks. Seventeen patients received two or more courses and were considered to be evaluable for response. Response parameters included change in the size of tumor on computerized tomographic scan and/or in clinical findings. Four patients had complete response, five had partial response, four had stable disease, and four had disease progression. Toxic effects were manageable. The number of patients with grade 3-4 toxic reactions, by category, were: thrombocytic, ten; leukocytic, four; renal, five; metabolic, four; gastrointestinal, none; and neurologic, seven. Two of the 14 patients tested had grade 3-4 ototoxicity. Acute fluid retention with decreased serum electrolytes and serious but reversible changes in the mental status, which were experienced in earlier patients, decreased in severity with increasing experience of the investigator. In summary, cisplatin appears to be active in a spectrum of brain tumors and should be studied further for therapeutic efficacy.

The diagnosis and management of headaches in childhood.

Chronic headaches are relatively common in children and adolescents. The majority of these are benign and do not reflect organic pathology. Diagnosis can usually be made by careful history and physical examination, and extensive laboratory investigations are rarely required. Most children can be managed with reassurance, simple analgesics, and mild sedation. For more severe cases, particularly of migraine, effective pharmacologic agents are available. The prognosis is favorable. Very few of these children go on to develop significant intracranial pathology, and the majority will remit spontaneously. A significant number, however, do have chronic headaches in adult life.

Stopping medication in children with epilepsy: predictors of outcome.

Anticonvulsant therapy was discontinued in 68 children with epilepsy who had had no seizures for four years, in an attempt to find the risk of relapse and the factors predictive of recurrence. In this population the probability of remaining free of seizures for four years after discontinuation of medication was 69 per cent. Children were more likely to have recurrent seizures if they were mentally retarded, if their seizures had begun before two years of age, if they had had many generalized seizures before control, or if they had had a definitely abnormal electroencephalogram before medication was discontinued. Multivariate analysis showed that the best predictors of outcome were the electroencephalogram taken at cessation of medication and the number of seizures before control. We conclude that in the normal child who has not had many seizures and whose electroencephalogram is normal or mildly abnormal, the risks of discontinuing medication after four seizure-free years are acceptable.

Toxoplasmosis: a treatable neurologic disease in the immunologically compromised patient.

A 10-year-old girl with aplastic anemia developed seizures and a mild hemiparesis following a bone marrow transplant. Based on serologic evidence and a computed tomography scan, which showed a left parietal lucency with ring enhancement, a diagnosis of toxoplasmosis was considered. A brain biopsy of the lucent area demonstrated the inflammation and necrosis but no organisms were seen. During a six-week course of pyrimethamine, sulfadiazine, and folinic acid therapy there was clinical and neuroradiologic resolution. The short course of therapy as well as the inadvertent substitution of folic acid for folinic acid and trimethoprim-sulfamethoxazole for sulfadiazine resulted in the reappearance of neurologic deficits. Reinstitution of appropriate therapy produced gradual improvement over a nine-month period. Serial computer tomography scans correlated with the clinical course. In the immunologically compromised host CNS toxoplasmosis should be considered in the differential diagnosis of an evolving CNS syndrome. Early detection and prolonged therapy with appropriate drugs can result in a favorable outcome. Computed tomography scanning may be helpful in diagnosis and follow-up.

Sandifer syndrome: an unappreciated clinical entity.

Five cases of Sandifer syndrome are reported, and the authors suggest that frequently the diagnosis may be overlooked, especially when the patient has a milder or incomplete form of the syndrome. None of the children had hiatal hernia, so this is not an essential requirement for the syndrome. The findings in these five cases suggest that the abnormal posturing associated with this syndrome may be the result of extreme sensitivity of the esophagus to refluxed gastric acid.

Nuclear anatomy of diversionary central nervous system shunts in children.

A simple method of demonstrating shunt morphology with 99m technetium diethylene triamine penta-acetic acid (99m Tc-DTPA) is described. The anatomic abnormalities are illustrated. Demonstration of the site of obstruction is useful in selecting the neurosurgical approach. The procedure is minimally invasive, accurate, and simple to interpret.

Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia.

Patients previously described with cartilage-hair hypoplasia, a distinctive form of short-limbed dwarfism, have been found to have deficient cell-mediated immunity with intact antibody-mediated immunity. The patient with cartilage-hair hypoplasia described in the present report is unusual in that she had both deficient antibody-mediated immunity and deficient cell-mediated immunity. In addition, she developed severe, vaccine-related paralytic poliomyelitis. This complication suggests that live viral vaccines should not be administered to children with short-limbed dwarfism until the form of short-limbed dwarfism is established and immunologic evaluation is performed when indicated.