Pediatric Neurology

Sydenham's Chorea: A Practical Overview of the Current Literature

Daniëlla M. Oosterveer, Wilhelmina C.T. Overweg-Plandsoen, Raymund A.C. Roos — 2010-07-01

Sydenham's chorea is characterized by uncoordinated movements, emotional instability, and hypotonia. It can occur up to several months after group A β-hemolytic Streptococcus infection. A diagnosis of Sydenham's chorea in a patient with acute chorea involves an application of the Jones criteria and the exclusion of other causes of chorea. In patients with an atypical history or hemichorea, cranial magnetic resonance imaging is indicated to exclude other cerebral pathologies. A pathogenesis has not been elucidated, and therapy has not been investigated in placebo-controlled trials. Antibiotic treatment and a 2-week or 3-week schedule of antibiotic prophylaxis are recommended. If the chorea is severe, valproate or carbamazepine can be effective. In more severely affected patients, dopamine receptor blocking agents or corticosteroids can be used.

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

Lina Basel-Vanagaite, William B. Dobyns — 2010-07-01

Microcephaly may be present at birth or develop postnatally. Classification according to the genetic cause cannot always predict the severity of the clinical course. The aim of this research was to group a large cohort of patients with primary microcephaly into more discrete subtypes, to optimize assessment of the patients based on their clinical and brain imaging findings. Medical records and brain images were reviewed for 4442 patients with brain malformations diagnosed and treated over 24 years and identified 247 patients classified as having microcephaly with simplified gyri alone or in association with additional brain abnormalities. For each case, clinical records were retrospectively reviewed for consanguinity, positive family history, sex, associated anomalies, and cranial magnetic resonance imaging. A subset (n = 12) of representative patients with the most complete available data was studied in greater detail, to define the most common subtypes and clinical presentations. Overall, four relatively common brain imaging presentations were identified, involving abnormalities in the gyral pattern, extra-axial space, and small size of the brainstem and cerebellum. Classifying patients with microcephaly according to brain imaging findings could enable more accurate counseling of the families with regard to prognosis.

Complications of Antipsychotic Therapy in Children With Tourette Syndrome

Tamara Pringsheim, Michelle Pearce — 2010-07-01

Antipsychotics are effective at suppressing tics in Tourette syndrome, but can cause side effects. At a single center, all children with Tourette syndrome requiring antipsychotics were systematically monitored for metabolic and neurologic side effects every 6 months. Seventy-three children were followed for a mean of 39.6 months. Most children were treated primarily with an atypical antipsychotic. Thirty-three of 73 children (45%) developed lipid abnormalities. Compared with population-based mean lipid values for boys, total cholesterol, low-density lipoprotein, high-density lipoprotein, and triglyceride levels were significantly higher in our male sample (P < 0.0001). Girls had significantly lower high-density lipoprotein concentrations (P = 0.0033). Thirty-six of 73 (49%) children demonstrated abnormal body mass index percentiles. The odds of having lipid abnormalities were significantly higher in children with abnormal body mass indices (odds ratio, 6.0; 95% confidence interval, 2.15-16.7; P = 0.0004). Three of 73 children developed neurologic complications. Metabolic complications of antipsychotics are common in children. These findings underscore the need to discuss benefits and risks before initiating therapy, and the importance of routinely monitoring growth and lipid profiles. Neurologic complications are uncommon, which is likely attributable to the primary use of atypical antipsychotics in this setting.

Increased Vulnerability to Oxidative Stress in Pediatric Migraine Patients

Ilknur Erol, Füsun Alehan, Derya Aldemir, Ersin Ogus — 2010-07-01

Little is known about the role of oxidative stress in the pathogenesis of pediatric migraine. The objective of the present study was to investigate, during a headache-free period, the activities of erythrocyte antioxidant enzymes in children and adolescents diagnosed with migraine. In all, 47 migraine patients (age range, 8-17 years; mean, 14.1 ± 2.4 years, 14 with aura) and 35 control subjects were included. Superoxide dismutase, glutathione peroxidase, and catalase activities were measured in erythrocytes. Although superoxide dismutase activities did not differ between groups, both catalase and glutathione peroxidase activities were significantly lower in migraine patients (P = 0.001 and P = 0.009, respectively). Activities of all three antioxidant enzymes were similar across migraine subgroups; there was no correlation with age and sex. These results confirm vulnerability to oxidative stress in pediatric migraine. Further studies and search for new therapeutic agents with antioxidant properties are needed.

APOE Gene ε Polymorphism Does Not Determine Predisposition to Ischemic Stroke in Children

2010-07-01

Ischemic stroke in children is relatively rare, but it remains an important medical problem. Previous studies on Polish children have implicated dyslipidemias as significant risk factors in stroke. To search for genetic factors associated with the disease, the possible association between apolipoprotein E gene ε polymorphism and childhood stroke was evaluated. The study population consisted of 243 individuals: 72 children with ischemic stroke and 100 of their biological parents and 71 children without any symptoms of stroke. The apolipoprotein E gene ε polymorphism was genotyped using restriction fragment length polymorphism methodology. To analyze the possible association between this polymorphism and stroke, the transmission disequilibrium test and the case-control model were used. No preferential distribution of any allele from parents to the affected children was observed. There were also no significant differences in genotype and allele distribution between patients and control subjects. Study findings did not confirm that ε polymorphism of the apolipoprotein E gene is a risk factor of ischemic stroke in children.

Vagus Nerve Stimulation for Refractory Epilepsy in Tuberous Sclerosis

2010-07-01

The goal of the study was to assess the long-term seizure and neuropsychologic outcomes of patients with tuberous sclerosis and refractory epilepsy who received vagus nerve stimulator implantation. Eleven patients with a follow-up period of at least 12 months were studied retrospectively. The mean age at the time of implantation was 14 years (range, 2-35). Seizure outcome was rated as class I (>80% seizure frequency reduction) in 1 (9%), class II (50-79% reduction) in 7 (63%), and class III (<50% reduction) in 3 (27%). No patient experienced permanent adverse effects after the procedure. A significant increase of adaptive behaviors and quality of life was observed. Patients who had implantation during childhood exhibited a greater improvement in cognitive and neuropsychologic functioning. Vagus nerve stimulation can be considered an effective and safe therapeutic option in patients with tuberous sclerosis and refractory epilepsy who are not candidates for epilepsy surgery.

Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome

2010-07-01

Rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl CpG binding protein 2 gene (MECP2). The MECP2 protein is expressed primarily in neurons, and mutations in the gene lead to the clinical features of Rett syndrome in human patients and neurologic deficits in murine models. Visual function is relatively preserved in Rett syndrome patients, but the cause is unknown. The eyes of two Rett syndrome patients who died of the disease were analyzed; no gross or microscopic changes were found. MECP2 expression was examined using immunohistochemistry; nuclear protein expression was largely limited to ganglion cells and the portion of the inner nuclear layer populated by amacrine cells. No significant differences in MECP2 protein level or distribution were identified in the two eyes from the Rett syndrome patients, compared with 11 controls. The findings were compared with MECP2 expression in the brain of these two subjects and in MECP2-deficient mice. The findings suggest that the normally limited expression of MECP2 in visual pathway neurons may underlie the intact vision observed in Rett syndrome.

Analysis of Status Epilepticus with Mycoplasma pneumoniae Encephalitis

2010-07-01

Encephalitis is characterized clinically by fever, seizure, and an altered level of consciousness. Mycoplasma pneumoniae, a common respiratory pathogen, has been implicated as an etiology of encephalitis. The present study was designed to analyze status epilepticus associated with M. pneumoniae encephalitis in a series of children through retrospective review of cases between January 2002 and January 2008. Systematic clinical data were evaluated. Nine patients were identified: five girls and four boys, aged 4 years to 10 years. All were positive for M. pneumoniae by serology. Six of the nine children (67%) developed refractory status epilepticus. The major clinical symptoms included fever (100%) and upper respiratory symptoms (78%). The most common seizure type was primary focal with secondary generalized seizure (44%). The time of follow-up for this study ranged from 18 months to 86 months. At the end of the study period, two patients had died, seven had developed epilepsy or neurologic deficits, and none had returned to baseline. These data indicate that children with status epilepticus associated with M. pneumoniae encephalitis have high mortality and morbidity. Clinicians should be aware of the potential role of M. pneumoniae in status epilepticus.

Bilateral Striopallidodentate Calcinosis With Paroxysmal Kinesigenic Dyskinesia

Gloria E. Diaz, Elaine C. Wirrell, Joseph Y. Matsumoto, Karl N. Krecke — 2010-07-01

Bilateral striopallidodentate calcinosis is characterized by calcification of the basal ganglia and other gray matter structures. We describe a 16-year-old boy with paroxysmal kinesigenic dyskinesia. He exhibited mineralization in the basal ganglia, posterior thalami, and dentate nuclei bilaterally, and was diagnosed with sporadic bilateral striopallidodentate calcinosis. The paroxysmal kinesigenic dyskinesia responded to low-dose treatment with carbamazepine (200 mg/day).

Epilepsy: An Anticipatory Presentation of Pediatric Wegener's Granulomatosis

2010-07-01

Wegener's granulomatosis is a necrotizing, granulomatous vasculitis that primarily affects the respiratory tract and kidneys. It is rare in children. Few pediatric and adult case reports described seizures and central nervous system involvement at initial presentation, and none described central nervous system involvement in the absence of respiratory or renal disease. We describe a 17-year-old girl with secondarily generalized seizures and granulomatous lesions in her brain. Although a systemic inflammatory disorder was suspected, she lacked evidence of pulmonary or renal involvement, so her signs were initially labeled as postinfectious encephalitis or variant acute disseminated encephalomyelitis. After 1 year of immunosuppressive therapy, she developed additional signs, leading to histologic confirmation on lung biopsy of Wegener's granulomatosis. This case emphasizes the need for close follow-up to monitor the asynchronous development of diagnostic clues when a systemic vasculitis is suspected but cannot be confirmed.

High-Dose Ganciclovir in HHV-6 Encephalitis of an Immunocompetent Child

2010-07-01

Encephalitis and other neurologic complications, including acute necrotizing encephalopathy, are associated with human herpesvirus-6 infection. Antiviral treatment against human herpesvirus-6 infection is indicated only for immunocompromised patients. We describe a 15-month-old immunocompetent child with severe human herpesvirus-6-induced encephalitis. The primary infection was characterized by human herpesvirus-6 DNA in cerebrospinal fluid and serum, the presence of serum human herpesvirus-6 immunoglobulin M antibodies, and a rise in serum human herpesvirus-6 immunoglobulin G antibodies. Magnetic resonance imaging demonstrated multiple, partly symmetric, necrotic lesions in the pons, medulla oblongata, thalamus, external capsules, and occipital subcortical and cortical areas. High-dose ganciclovir (18 mg/kg/day) was used as antiviral treatment, without side effects. A pharmacokinetic analysis of ganciclovir was performed. The initial recovery from severe disease was good. At 3-year follow-up, neurologic sequelae included epilepsy and ataxia. This case suggests that treatment with ganciclovir should be considered in human herpesvirus-6 central nervous system infections because the neurologic sequelae may otherwise be severe. Controlled, prospective, clinical trials are warranted, to analyze the pharmacokinetics of ganciclovir in infants.

Brown-Séquard-Plus Syndrome Because of Penetrating Trauma in Children

2010-07-01

Brown-Séquard syndrome is an uncommon condition involving incomplete spinal cord injury, with ipsilateral motor and proprioception loss, contralateral pain, and decreased temperature. Brown-Séquard-plus syndrome is associated with additional neurologic findings involving the eyes, bowel, or bladder. We describe an adolescent with Brown-Séquard-plus syndrome attributable to a stab injury. Our patient's clinical features of spinal and neurogenic shock overlapped at presentation. He was managed with high-dose steroids, along with intense physiotherapy and rehabilitation, resulting in good neurologic recovery. Appropriate medical (and surgical, when indicated) management usually results in good to complete recovery of neurologic function, depending on the level and grade of injury. With the increasing incidence of gunshot wounds and stab injuries in children, pediatricians, including pediatric neurologists and emergency physicians, are more likely to encounter these types of spinal cord injuries in children.

Paroxysmal Kinesigenic Dyskinesias and Pseudohypo-parathyroidism Type Ib

Katherine P. Thomas, Deivasumathy Muthugovindan, Harvey S. Singer — 2010-07-01

Pseudohypoparathyroidism is a rare cause of paroxysmal dyskinesias. We describe an otherwise well 10-year-old girl who was diagnosed with pseudohypoparathyroidism type Ib after presenting with involuntary movements of the hands and feet that occurred while running or walking. Magnetic resonance imaging of the brain indicated T1 hyperintensities of the bilateral basal ganglia. A computed tomography scan of the head revealed diffuse cerebral calcifications, most prominent in the basal ganglia. Treatment with calcitriol and calcium carbonate led to a complete resolution of her signs. We recommend that hypoparathyroidism always be considered in patients with kinesigenic paroxysmal dyskinesias, especially insofar as it is a treatable disorder.

Anticonvulsant Hypersensitivity Syndrome Treated With Intravenous Immunoglobulin

David C. Dredge, Elizabeth C. Parsons, Lindsay P. Carter, Kevin J. Staley — 2010-07-01

Anticonvulsant hypersensitivity syndrome is a severe, potentially life-threatening, reaction to the aromatic anticonvulsant medications. Reported here is a case of anticonvulsant hypersensitivity syndrome secondary to phenobarbital in a 2-year-old boy; he responded to drug withdrawal, corticosteroids, and intravenous immunoglobulin. The literature regarding treatment of this syndrome is reviewed.

Presurgical Prediction of Motor Functional Loss Using Tractography

Rajkumar Munian Govindan, Harry T. Chugani, Aimee F. Luat, Sandeep Sood — 2010-07-01

The usefulness of magnetic resonance imaging tractography is demonstrated in the presurgical planning of an 8-year-old girl with intractable epilepsy. Imaging and intracranial electrode monitoring suggested a left hemispherectomy for complete control of her seizures. Although this child was hemiplegic, she retained considerable motor function in her right hand, and her parents and the epilepsy team voiced significant concern that she would lose right-hand function after a hemispherectomy. Tractography indicated near-complete absence of her left corticospinal tract and a more robust than normal corticospinal tract in the right hemisphere. This finding suggested that her right motor function had reorganized to the right hemisphere and the ipsilateral corticospinal tract. After surgery, her seizures were completely controlled, and no change in right motor activity was evident compared with her presurgical status. Tractography helped determine the extent of cortical resection and predict the extent of motor functional loss.

Electroconvulsive Therapy for Catatonia in a Boy With Hydrocephalus and an Arachnoid Cyst

Lee E. Wachtel, Kristin Baranano, Irving M. Reti — 2010-07-01

We report on the successful use of electroconvulsive therapy in a 13-year-old boy with congenital hydrocephalus, a history of multiple shunt revisions, and a stable prepontine arachnoid cyst, who experienced profound catatonic deterioration. After initial shunt placement at age 20 months, the patient had followed normal motor, cognitive, and social developmental trajectories. Two uncomplicated shunt revisions were performed at ages 10 and 13 years. Three months after the last revision, the patient demonstrated multiple psychomotor signs, culminating in hospital admission for rigidity, posturing, waxy flexibility, stupor, mutism, and cessation of all oral intake. An extensive neurologic workup related to his preexisting conditions produced negative results, and a course of electroconvulsive therapy for acute catatonia was pursued, with outstanding improvement.

Septo-Optic Dysplasia Plus: A Patient With Diabetes Insipidus

Kursat Bora Carman, Coskun Yarar, Ayten Yakut, Baki Adapinar — 2010-07-01

The association of septo-optic dysplasia and cortical dysplasia is described as septo-optic dysplasia-plus. Reports on patients with septo-optic dysplasia-plus have been rare. We describe a 4-year-old girl with septo-optic dysplasia-plus syndrome, characterized by septo-optic dysplasia with schizencephaly, pachygyria, and diabetes insipidus.

Calendar

2010-07-01

Instructions to Contributors

2010-07-01

Pediatric Neurology

Sydenham's Chorea: A Practical Overview of the Current Literature

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

Complications of Antipsychotic Therapy in Children With Tourette Syndrome

Increased Vulnerability to Oxidative Stress in Pediatric Migraine Patients

APOE Gene ε Polymorphism Does Not Determine Predisposition to Ischemic Stroke in Children

Vagus Nerve Stimulation for Refractory Epilepsy in Tuberous Sclerosis

Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome

Analysis of Status Epilepticus with Mycoplasma pneumoniae Encephalitis

Bilateral Striopallidodentate Calcinosis With Paroxysmal Kinesigenic Dyskinesia

Epilepsy: An Anticipatory Presentation of Pediatric Wegener's Granulomatosis

High-Dose Ganciclovir in HHV-6 Encephalitis of an Immunocompetent Child

Brown-Séquard-Plus Syndrome Because of Penetrating Trauma in Children

Paroxysmal Kinesigenic Dyskinesias and Pseudohypo-parathyroidism Type Ib

Anticonvulsant Hypersensitivity Syndrome Treated With Intravenous Immunoglobulin

Presurgical Prediction of Motor Functional Loss Using Tractography

Electroconvulsive Therapy for Catatonia in a Boy With Hydrocephalus and an Arachnoid Cyst

Septo-Optic Dysplasia Plus: A Patient With Diabetes Insipidus

Calendar

Table of Contents

Instructions to Contributors