Use of Complementary and Alternative Medicine in Children With Tourette Syndrome.

INTRODUCTION: Tourette syndrome is a neuropsychiatric condition defined by motor and phonic tics with onset in childhood. Many families have concerns regarding potential side effects of pharmacologic treatments, and often have difficulty accessing comprehensive behavioral intervention for tics. Patients and caregivers may turn to complementary and alternative medicine (CAM) as they perceive these as "natural" and therefore "safe." Although there are anecdotal reports of an increased use of CAM in Tourette syndrome patients, the exact prevalence is unknown. OBJECTIVE: The purpose of this study was to identify commonly used CAM therapies for children with Tourette syndrome at Penn State Hershey Medical Center. METHODS: A questionnaire was administered to the caregivers of children (<18 years old) via telephone. The data pertaining to demographics, type of CAM use, duration of use, adverse effects, and caregiver's perception of the effectiveness were collected. RESULTS: A total of 110 patients participated in this survey. When inquired about the different CAM methods, 69.1% of the participants reported using 1 or more CAM therapies, and 58% of those who used CAM informed the doctor about their use. Ninety-three percent of those who used CAM therapy reported a decrease in tic frequency. The most commonly used CAM therapies were stress management (44.6%), herbal medicine (18.2%), homeopathy (12.7%), and meditation (9.1%). In total, 46% of the participants said that CAM helped more than medication. CONCLUSION: The majority of patients interviewed were using CAM therapies, and a significant portion reported benefit greater than medication. More than half of all participants discussed CAM therapies with their physicians, and 63% of participants felt that their physicians would support their use of CAM therapies.

DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis.

This case represents a novel association of a DNM1 gene mutation with status epilepticus and progressive bilateral mesial temporal sclerosis. This could have future implications for treatment in patients with DNM1 mutation and refractory epilepsy as the mesial temporal sclerosis may become bilateral, making the patient a poor surgical candidate.

Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report.

We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup diagnosed the child with King-Denborough syndrome (KDS). This particular mutation has never been documented in a patient with KDS. Atypical presentation of MH is more likely in patients with RYR1-related myopathy. A high index of suspicion for MH in children with myopathy is important. The MH hotline was helpful in the management of this patient when it was called after the initial dose of dantrolene. A neurology consult was essential for the diagnosis of KDS and future care.

Tourette Syndrome and Comorbid Neuropsychiatric Conditions.

Tourette syndrome is a neuropsychiatric condition characterized by both motor and phonic tics over a period of at least 1 year with the onset in childhood or adolescence. Apart from the tics, most of the patients with Tourette syndrome have associated neuropsychiatric comorbidities consisting of attention deficit hyperactivity disorder, obsessive compulsive disorder, rage attacks, sleep issues, depression, and migraine. Patients may also have physical complications directly from violent motor tics which can rarely include cervical myelopathy, arterial dissection, and stroke. The purpose of this article is to review the associated neuropsychiatric comorbidities of Tourette syndrome with emphasis on recent research.

Pure neuritic leprosy presenting as ulnar nerve neuropathy: a case report of electrodiagnostic, radiographic, and histopathological findings.

Hansen's disease, or leprosy, is a chronic infectious disease with many manifestations. Though still a major health concern and leading cause of peripheral neuropathy in the developing world, it is rare in the United States, with only about 150 cases reported each year. Nevertheless, it is imperative that neurosurgeons consider it in the differential diagnosis of neuropathy. The causative organism is Mycobacterium leprae, which infects and damages Schwann cells in the peripheral nervous system, leading first to sensory and then to motor deficits. A rare presentation of Hansen's disease is pure neuritic leprosy. It is characterized by nerve involvement without the characteristic cutaneous stigmata. The authors of this report describe a case of pure neuritic leprosy presenting as ulnar nerve neuropathy with corresponding radiographic, electrodiagnostic, and histopathological data. This 11-year-old, otherwise healthy male presented with progressive right-hand weakness and numbness with no cutaneous abnormalities. Physical examination and electrodiagnostic testing revealed findings consistent with a severe ulnar neuropathy at the elbow. Magnetic resonance imaging revealed diffuse thickening and enhancement of the ulnar nerve and narrowing at the cubital tunnel. The patient underwent ulnar nerve decompression with biopsy. Pathology revealed acid-fast organisms within the nerve, which was pathognomonic for Hansen's disease. He was started on antibiotic therapy, and on follow-up he had improved strength and sensation in the ulnar nerve distribution. Pure neuritic leprosy, though rare in the United States, should be considered in the differential diagnosis of those presenting with peripheral neuropathy and a history of travel to leprosy-endemic areas. The long incubation period of M. leprae, the ability of leprosy to mimic other conditions, and the low sensitivity of serological tests make clinical, electrodiagnostic, and radiographic evaluation necessary for diagnosis. Prompt diagnosis and treatment is imperative to prevent permanent neurological injury.

Tourette Syndrome: a general pediatrician's 35-year experience at a single center with follow-up in adulthood.

A retrospective analysis of a 35-year single-center experience with pediatric tics and Tourette syndrome was conducted. 482 charts from 1972 to 2007 were reviewed. Follow-up surveys were mailed to last known address and 83 patients responded (17%). Response rate was affected by long interval from last visit; contact information was often incorrect as it was the address of the patient as a child. Males constituted 84%. Mean tic onset was 6.6 years. At first visit, 83% had multiple motor tics and >50% had comorbidities. 44% required only 1 visit and 90% less than 12 visits. Follow-up showed positive clinical and social outcomes in 73/83 survey responses. Of those indicating a poor outcome, mean educational level was lower and attention deficit/hyperactivity disorder and learning disabilities were significantly higher. Access to knowledgeable caregivers was a problem for adult patients. A shortage of specialists may in part be addressed by interested general pediatricians.

Protracted symptoms in lymphocytic choriomeningitis: a case report.

Assumed to be underreported and underrecognized, lymphocytic choriomeningitis presents as a febrile illness transmitted by the common house mouse, Mus musculus. Although asymptomatic or mild febrile illnesses are commonplace, meningitis and meningoencephalitis may develop after symptoms have seemed to improve. Neurologic sequelae are not typical but have been reported and can persist for months. We report a documented case of lymphocytic choriomeningitis in which a previously healthy 17-year-old girl experienced debilitating recurrent headaches and arthralgias for more than a year after discharge. Neuropsychological testing and visual changes were also documented. Further research is needed to estimate the prevalence of this infection, although it has been estimated that 5% of American adults have antibodies to lymphocytic choriomeningitis virus. Education and awareness of the medical community as well as the general public will be critical in prevention as well as advancing future treatment modalities of lymphocytic choriomeningitis virus.

The ketogenic diet for the treatment of pediatric status epilepticus.

BACKGROUND: Refractory status epilepticus carries a high risk of morbidity and mortality for children. Traditional treatment of status epilepticus consists of multiple anticonvulsant drugs and, if needed, induction of a medical coma. The ketogenic diet has been used for intractable epilepsy for many years. The purpose of this article is to report a case series of five patients with refractory status epilepticus successfully managed with the ketogenic diet. METHODS: A summary of pediatric patients with refractory status epilepticus treated with diet was performed. CONCLUSIONS: Ketogenic diet therapy should be considered as a treatment option in pediatric patients with refractory status epilepticus.

Rapid onset of hippocampal atrophy in febrile-infection related epilepsy syndrome (FIRES).

Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic and usually refractory epilepsy syndrome that occurs after a febrile illness in previously normal children. The pathogenesis of the syndrome is unknown, and the diagnosis is typically made by exclusion after an exhaustive negative workup for central nervous system infections and autoimmune or metabolic disorders. Magnetic resonance imaging of patients with this condition has previously shown hippocampal abnormalities, typically found several months or longer after initial seizures. We report a previously healthy 5-year-old child who developed hippocampal atrophy by day 37 of his illness. The development of early hippocampal atrophy in this epileptic encephalopathy may provide insight into pathogenesis and highlights the need for aggressive and effective interventions early in the disease process.

Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase.

Neonatal metabolic encephalopathy may be related to electrolyte imbalances, endocrine dysfunction, or inborn errors of metabolism. The metabolic encephalopathies are always a diagnostic challenge to the neonatologist and pediatricians. This is more so because the signs and symptoms of are nonspecific and are often similar to those with other neonatal emergencies. Clinical suspicion of neonatal encephalopathy should be considered in any infant exhibiting an abnormal level of consciousness, seizures, tone and reflex abnormalities, apnea, aspiration, and feeding difficulties. A definitive diagnosis is frequently not possible during the neonatal care unit or emergency department. But the proper initial management based on the probable diagnosis can be life-saving or reduce neurologic sequelae. In the case of inborn errors of metabolism, imaging may play a vital role either in limiting the differential diagnosis or yet times pointing towards the specific diagnosis or error of metabolism. We report DWI-ADC changes on MRI in the acute stages of neonatal nonketotic hyperglycinemia (NKH) due to sequence changes in GLDC gene.