Anthony R. Riela

Juvenile Myoclonic Epilepsy: Long‐Term Response to Therapy

Summary: Data from 50 patients with juvenile myoclonic epilepsy (JME) were analyzed retrospectively to assess the response to drug therapy–long‐term seizure control, relapse rates, and confounding factors in seizure recurrence. Valproate is the only available antiepileptic drug that has been shown to be effective in controlling the generalized seizure components of JME–myoclonic, tonoclonic, and absence seizures–without significant side effects. Data were collected using the EpiMonitor software and represented case follow‐up from 2 months to 9 years. Forty‐three patients (86%) were seizure free for at least 1 year; 25 patients (50%) relapsed at some point during follow‐up. Relapses were precipitated most frequently by fatigue, noncompliance, stress, sleep deprivation, and alcohol consumption. With accurate diagnosis and appropriate therapy, seizures in JME can be adequately controlled, although JME is a chronic disorder that may require lifelong therapy. To minimize relapse, patient management must also focus on patient lifestyle to eliminate or control lifestyle‐associated precipitants of seizure relapse.

Valproate-Associated Pancreatitis

Summary: To assess the clinical characteristics of valproate (VPA)‐associated pancreatitis, information from three sources was gathered: (a) a survey among 507 physicians with a special interest in treatment of epilepsy, (b) a review of the authors’ patient population, and (c) a review of the literature. Of 366 physicians answering the survey, 53 (14.5%) reported a case of pancreatitis. Thirty‐nine cases were available for review (24 from the medical literature, 12 from the survey, and 3 from the authors). Pancreatitis appeared to be more frequent in young persons (mean age 16.4 years) but may occur at any age. The highest risk appears to exist during the first months of treatment: 43.8% of the cases developed during the first 3 months, and 68.8% developed during the first year. Seventy‐six percent of patients were receiving polytherapy, and 41% had some form of associated chronic encephalopathy. In most patients, the reaction was rapidly reversible when VPA was discontinued. It was severe in 6 patients, with 3 deaths reported. Rechallenge with VPA was attempted in 9 patients, with a high incidence of relapses. Asymptomatic elevation of serum amylase in patients receiving VPA was reported by 40 (10.9%) of the physicians surveyed. Awareness of the problem and early discontinuation of VPA may be effective in preventing serious reactions.

Sturge-Weber syndrome: Recommendations for surgery

Received Dec 14, 1993. Accepted for publication Dec 22, 1993. From the Division of Pediatric Neurology (Drs Roach and Riela), University of Texas Southwestern Medical School, Dallas, TX; the Departments of Neurology, Pediatrics, and Nuclear Medicine (Dr Chugani), Children’s Hospital of Michigan and Wayne State University, Detroit, MI; the Division of Pediatric Neurology (Dr Shinnar), Montefiore Medical Center, New York, NY; the Division of Pediatric Neurology (Dr Bodensteiner), West Virginia University School of Medicine, Morgantown, WV; and the Department of Neurology (Dr Freeman), Johns Hopkins School of Medicine, Baltimore, MD.

Transient Magnetic Resonance Imaging Abnormalities During Partial Status Epilepticus

Magnetic resonance imaging is an important tool in the evaluation of patients with seizures. Frequently, abnormalities are found that lead to further, invasive testing. The first child with transient abnormal findings on magnetic resonance imaging during a time of frequent partial seizures is presented. This lesion disappeared with seizure control. The imaging literature is reviewed concerning transient findings on any imaging modality during frequent seizures. Caution in recommending invasive procedures is suggested when abnormalities are found on magnetic resonance imaging during frequent seizures. (J Child Neurol 1991;6:143-145).

Wilson's disease: evoked potentials and computed tomography

SummaryMulti-modality evoked potentials and computed cranial tomography (CT) were performed in ten patients with Wilsons disease to determine if any of these studies would correlate reliably with neurologic status. While all four patients with CT abnormality had neurologic signs, two additional patients with neurologic findings had normal scans. Evoked responses were normal in nine patients. The remaining patient displayed abnormal visual, brainstem, and somatosensory evoked potentials, and follow-up studies after clinical deterioration revealed worsening of the brainstem and visual evoked potentials. This patient died unexpectedly from a subdural hematoma, and postmortem examination confirmed the radiographic findings of cortical atrophy of the cerebrum and cerebellum and bilateral cystic degeneration of the basal ganglia. However, localized demyelination in the visual, auditory, and sensory pathways was not present. We conclude that the clinical neurologic status of patients with Wilsons disease cannot be reliably predicted by either CT or multi-modality evoked potentials.

Hypertrophic neuropathy with spinal cord compression

The case of a 40-year-old patient with Dejerine-Sottas disease, who developed spinal cord compression from hypertrophic nerve roots, is presented. Six previously reported cases are reviewed. We discuss the characteristic myelographic changes seen in Dejerine-Sottas disease.

Metastatic-adenoid cystic carcinoma of the major salivary glands presenting as a spinal cord tumor

An adenoid cystic carcinoma (cylindroma) of the submandibular salivary gland presented 17 years after diagnosis with a compressive syndrome of the spinal cord as well as a local recurrence. This is the first reported case of such an occurrence. The literature is reviewed concerning other malignant tumors of the salivary glands presenting in this way. Fifteen cases of mixed salivary-gland tumors are reviewed. Evidence of histologic change from one tumor type to another and the mechanism of spread to the vertebral column is discussed.

Magnetic resonance imaging in pediatric neurologic disorders

We present our initial experience with magnetic resonance imaging (MRI) in 301 pediatric patients with a variety of neurologic disorders. MRI does not require ionizing radiation and can be done easily and safely in children. It is equal or superior to computed cranial tomographic (CT) scans in demonstrating most types of pediatric neurologic disorders. MRI is often superior to CT scans in demonstrating intracranial tumors, although both studies are usually abnormal in highly malignant tumors. No clear advantage was shown with either MRI or CT scans for fluid-filled intracranial lesions. Lesions of the brain stem and upper cervical region, such as Chiari malformation, are well delineated by MRI. Increased signal from the paranasal sinuses was frequently evident by MRI, but, in most instances, there was no clinical indication of sinus disease. Large arteries can be visualized as an area of diminished signal, and intracranial hemorrhage, dural sinus thrombosis, and cerebral infarction were demonstrated. The increased anatomic detail pictured by MRI allows the diagnosis of congenital defects, such as agenesis of the corpus callosum or septum pellucidum, that are not always apparent with CT scans. Although our experience with spinal cord lesions was not extensive, fluid-filled lesions within the cord can be reliably demonstrated. (J Child Neurol 1987;2:111-116).