Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.

Calcium-sensing receptor gain-of-function mutations are known to cause autosomal dominant hypocalcemia and independently an epilepsy syndrome. We report the unique case of a child with both intractable generalized epilepsy and a chronic abnormality in calcium homeostasis due to a calcium-sensing receptor gene mutation. She is a 16-year-old female who began having staring events around 3 years of age. After her first generalized convulsion at age 5 years, investigations revealed hypocalcemia, hypercalciuria, and central nervous system calcifications. Her electroencephalogram demonstrated generalized epileptiform discharges, a hyperventilation-induced electroclinical seizure, and a photoconvulsive response. She has since been diagnosed with intellectual impairment, behavior disorder, and intractable childhood-onset seizures, the latter of which include eyelid myoclonia with absences. We conclude that calcium-sensing receptor gain-of-function mutations may precipitate an intractable generalized epilepsy syndrome with a comorbid endocrinopathy and that further investigations should be pursued in children with seizures presumed to be provoked by hypocalcemia.

The Complex Diagnostic Challenge in Children With Non-Central Nervous System Cancer and Cerebellar Mutism.

Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical posterior reversible encephalopathy syndrome; and acute disseminated encephalomyelitis may all cause mutism in such patients. This condition warrants prompt recognition and may require treatment with immunotherapy, as it may be an immune-mediated process. We present 2 patients with leukemia and viral illness who developed cerebellar mutism in the setting of acute cerebellitis and responded to immunotherapy, suggesting that the condition involved a parainfectious immune-mediated response.

Severe Neurological Complications Associated With Tourette Syndrome.

BACKGROUND: Tics and Tourette syndrome are common problems evaluated by both the general pediatrician and pediatric neurologist. The common comorbidities of tics are well known, but the severe neurological complications are rare and may not be appreciated. METHODS: This is a retrospective case series and literature review. RESULTS: We present here four adolescents with Tourette syndrome who had severe neurological complications secondary to motor tics. We provide the history, neurological examination, and radiological findings in addition to a review of previously reported cases of vascular and cervical cord complications associated with violent motor tics. CONCLUSIONS: We highlight the importance of recognizing the presenting signs of these complications early and the need to vigorously treat violent motor tics to prevent significant neurological complications.

SmartWatch by SmartMonitor: Assessment of Seizure Detection Efficacy for Various Seizure Types in Children, a Large Prospective Single-Center Study.

INTRODUCTION: Patients with epilepsy and their caregivers are constantly burdened with the possibility of a seizure and its consequences, such as accidents, injuries, and sudden unexplained death in epilepsy. It is the unpredictable nature of seizures that often affects both patients with seizures and their caregivers, limits independence, and hinders quality of life. There are several types of motion detectors on the market, each with varying degrees of sensitivity. MATERIAL AND METHODS: We prospectively tested the SmartWatch, a wrist-worn monitor, on children, adolescents, and young adults with various types of seizures in an epilepsy monitoring unit. Confirmation of seizure type and if there was rhythmic upper extremity jerking associated with the seizure was determined by review of the video electroencephalograph. This was compared with the standard detection system of the watch. RESULTS: This study analyzed a total of 191 seizures in 41 patients aged 5-41 years. Fifty-one of the seizures were generalized tonic-clonic. Forty-seven of the seizures had a rhythmic arm movement component. The SmartWatch detected 30 seizures (16%) of the total, 16 (31%) of the generalized tonic-clonic seizures, and 16 (34%) seizures associated with rhythmic arm movements. DISCUSSION: Overall, only a minority of generalized tonic-clonic seizures or seizures with rhythmic movements were detected, highlighting the need for an effective seizure detection device.

Bupropion Overdose Presenting as Status Epilepticus in an Infant.

BACKGROUND: Bupropion is a monocyclic antidepressant in the aminoketone class, structurally related to amphetamines. The Food and Drug Administration withdrew this product from the market in 1986 after seizures were reported in bulimic patients. It was later reintroduced in 1989 when the incidence of seizures was shown to be dose-related in the immediate release preparation. Massive bupropion ingestion has been associated with status epilepticus and cardiogenic shock in adults. Seizures have been reported in children, but not status epilepticus. This report highlights a patient who presented with status epilepticus and developed cardiopulmonary arrest after bupropion ingestion. False-positive amphetamine diagnosis from urine drug screen on presentation was reported. METHOD: We review the presentation, clinical course, diagnostic studies, and outcome of this patient. We then review the literature regarding bupropion overdose in children. RESULT: Symptoms of bupropion toxicity and risk for seizures are dose-dependent and fatalities have been reported. Our patient developed status epilepticus and cardiopulmonary arrest and then progressed to have a hypoxic ischemic encephalopathy and refractory symptomatic partial seizures. CONCLUSION: Our report highlights the need to keep this medication away from children in order to prevent accidental overdose.