Obesity and paediatric migraine.

This study investigates the influence of obesity on the severity of migraine in children. One hundred and twenty-four patients (77 female, 36 with aura; mean age 12.9 +/- 2.8 years; age range 4.0-17.0 years) were included. Headache features such as number and duration of attacks, pain severity and associated symptoms were compared between obese, overweight and normal weight patients. The percentage of obesity was 17.7. Although pain severity and duration were not different among groups, obese patients had more frequent attacks than the overweight and normal weight patients (5.3 +/- 2.4, 4.4 +/- 2.4 and 3.8 +/- 2.4 attacks/month, respectively, P = 0.018). There was also a positive correlation between relative body mass index and number of attacks (P = 0.026, r = 0.20). Obesity did not have an influence on migraine-associated symptoms including aura, phono/photophobia, nausea and vomiting. In this study, obesity appeared to be related to the frequency of headache attacks in children and adolescents with migraine.

Increased risk for coeliac disease in paediatric patients with migraine.

The aim was to determine the prevalence of coeliac disease (CD) in paediatric patients with migraine. Serum tissue transglutaminase IgA (tTGA) antibodies and IgA concentrations were measured in 73 patients with migraine (age range 6-17 years) and the control group (n = 147). Patients having positive tTGA antibodies underwent duodenal biopsy. Four patients (5.5%) from the study group and one (0.6%) from the control group had positive tTGA antibody titres (P < 0.05). Three patients with migraine had normal duodenal histology and were considered as potential CD. One patient from the study group and one from the control group declined to have biopsy. tTGA antibody is considered as a reliable indicator for the presence of CD. However, some patients with positive antibodies may have normal biopsy initially and are classified as having potential CD. Our finding of a higher prevalance of tTGA antibodies in paediatric migraine patients suggests that an association between migraine and CD might exist.

Phenytoin-associated thrombocytopenia in a toddler.

Hematologic side effects are rare side effects of treatment with phenytoin. We report a 2-year-old girl who developed reversible thrombocytopenia following treatment with phenytoin. Thrombocytopenia as a side effect of phenytoin treatment has usually been reported in adults and generally occurs 2 to 4 weeks after initiation of therapy. In our case, the thrombocytopenia developed on the 11th day of therapy and resolved 5 days after discontinuation of the phenytoin.

Utility of electroencephalography in the pediatric emergency department.

To assess the role of electroencephalography (EEG) in the pediatric emergency department, we reviewed the records of all patients having an EEG in the pediatric emergency department of our hospital between 1995 and 1997. EEG findings, clinical presentations, and follow-up data were analyzed, and patients were distributed into three groups according to clinical presentation: group 1 included patients with new-onset seizures, group 2 included patients with known epilepsy presenting with worsening seizures and altered mentation, and group 3 comprised patients with acute confusional states. Overall, 56 patients with 57 EEGs were included. In group 1 (n = 36), 20 (55.6%) had an abnormal EEG. The risk of recurrence was much higher in children with abnormal EEGs (80% vs. 31%) (P < .01). In retrospect, among all of the patients receiving the diagnosis of epilepsy, 76% had an abnormal emergency department EEG. Four in group 2 (n = 14) and one in group 3 (n = 7) were proven to have nonconvulsive status epilepticus and were treated accordingly. No patients in group 1 had nonconvulsive status epilepticus. Ongoing seizures were promptly excluded in the remainder. The EEG directly contributed to the diagnosis in 84% of all referrals in the pediatric emergency department, either being abnormal and leading to a diagnosis of a seizure disorder or confirming low suspicion for seizures. Thus, a prompt EEG should be considered in children with new-onset seizures and unexplained altered consciousness.

Activated protein C resistance and false type 2 protein C deficiency detected after multiple shunt failures in a patient with hydrocephalus.

A 2-year-old hydrocephalic boy who had suffered multiple shunt failures was evaluated for hypercoagulability after a thrombus was removed from his right atrium. The work-up revealed that the patient had the heterozygous form of activated protein C resistance and false type 2 protein C deficiency by the clotting method. His protein C activity was normal by the chromogenic method. We suggest that patients having hydrocephalus, shunt-associated thrombus formation, or both should be evaluated for thrombophilic disorders, and protein C activity should be measured by chromogenic assay in patients with documented activated protein C resistance.

Echocardiographic assessment of left and right ventricular diastolic functions in children with dilated cardiomyopathy.

We evaluated left and right ventricular diastolic functions by pulsed Doppler echocardiography in 16 children with dilated cardiomyopathy and in 20 healthy age-matched control subjects. The cardiomyopathy group demonstrated an abnormal relaxation pattern of the left ventricle. In the cardiomyopathy group compared to normal subjects, peak early filling velocities (43.3 +/- 11 cm/s versus 60.4 +/- 11 cms/s, p < 0.01), the corresponding velocity-time integrals (3.3 +/- 1.4 cm versus 4.6 +/- 1.2 cm, p < 0.01) and the ratio of peak early filling velocity to late filling velocity (1.22 +/- 0.47 versus 1.49 +/- 0.23, p < 0.05) were significantly lower whereas isovolumic relaxation time was significantly longer (58.9 +/- 19.8 ms versus 49.7 +/- 8.9 ms, p < 0.05). In addition, right ventricular diastolic filling was also impaired in children with dilated cardiomyopathy. Peak early filling velocities (41 +/- 7.9 cm/s versus 47.5 +/- 8.8 cm/s, p < 0.05) and the corresponding velocity time integrals (3.0 +/- 1.0 cm versus 3.87 +/- 1.1 cm, p < 0.05) were significantly decreased, while isovolumic relaxation time was significantly increased (60.6 +/- 16.3 ms versus 52.2 +/- 12.8 ms, p < 0.05) in the cardiomyopathy group. The study suggests that abnormalities of both right and left ventricular diastolic function may occur, and should be searched for, in pediatric patients with dilated cardiomyopathy.

Neurocognitive functions in pediatric renal transplant patients.

Neurocognitive dysfunction is one of the major complications of chronic renal failure (CRF). Uremic state during CRF encompasses a wide spectrum of neurobehavioral and neurological disturbances. Recent studies showed that the pathophysiology of neurocognitive dysfunction in CRF is related to plasma levels of uremic solutes. Successful renal transplantation improves renal, metabolic, and endocrine functions and the quality of life. The aim of our study was to determine the state of neurocognitive function in pediatric renal transplant recipients. We prospectively performed a neurological examination and neuropsychological test battery (Bender-Gestalt Test, Cancellation Test, and Visual and Auditory Number Assay Test) in 20 pediatric renal transplant recipients between 6 and 16 years of age. Twenty healthy children and 20 children with CRF were included in the study as the control groups. Mean age of the renal transplant recipients was 13.50 ± 3.40 years old. Mean evaluation time after transplantation was 2.0 ± 0.5 years. Bender-Gestalt Test result was abnormal in 40% of patients. The results of the Cancellation Test and the Visual and Auditory Number Assay Test showed significant decline in pediatric renal transplant patients when compared with the control. We found that neurocognitive dysfunction was frequent in pediatric renal transplantation patients. Awareness of this potential problem may be helpful for early recognition and treatment. Our findings suggest that periodic neurocognitive assessments may be indicated in transplant recipients.

Sinus node paucity in hyperekplexia.

We report a newborn with hyperekplexia and uncontrolled tonic spasms which did not respond to intravenous phenobarbitone and phenytoin, and midazolam infusion. Serum biochemistry, electrocardiography, electroencephalography, lumbar puncture and neuroimaging were normal. Continuous cardiac monitoring revealed that tonic spasm episodes were accompanied by sinus node paucity and severe bradycardia. Duration and number of tonic spasm episodes decreased with clonazepam therapy, and she was discharged. At 4 months of age sudden infant death occurred. Sudden infant death could be related to the paucity of sinus node. Cardiac pacemaker implantation should be considered even if the medical treatment is successful.

Gaucher disease with communicating hydrocephalus and cardiac involvement.

A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life-threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery.

Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.

We describe a patient with acute combined demyelinating disease of the central and peripheral nervous systems associated with the A8344G mutation in the mitochondrial tRNA lysine gene. A 7-year-old boy presented with acute onset of palpitations, tinnitus, ataxia, bilateral sixth nerve palsy, and flaccid quadriparesis. Serum creatine kinase and lactate were mildly increased. Electromyography showed demyelinating sensory and motor polyneuropathy. Brain magnetic resonance imaging demonstrated demyelination in the left thalamus and magnetic resonance spectroscopy revealed a lactate peak corresponding to this lesion. Histologic analysis of the muscle showed cytochrome c-oxidase-deficient fibers and ragged red fibers. Respiratory chain analyses revealed deficiencies of complexes I and IV. Molecular genetic analyses of the muscle showed an A8344G (MERRF) mutation in mitochondrial tRNA lysine. To the best of our knowledge, this is the first description of this mutation associated with acute combined demyelinating disease of the central and peripheral nervous systems.

Living related liver transplantation in Crigler-Najjar syndrome type 1.

Four children underwent living related liver transplantation because of Crigler-Najjar syndrome type 1. Three were infants aged 2, 8(1/2), and 15 months, and weighed 5, 8, and 10 kg, respectively. Pretransplantation unconjugated bilirubin concentration was 22 to 30 mg/dL despite 12 to 14 hours of phototherapy daily. Patient 1, the 2-month-old infant, with unconjugated bilirubin concentration of 30 mg/dL, had a high-pitched cry, suggestive of bilirubin encephalopathy; results of neurologic examination were normal. Plasmapheresis and urgent liver transplantation were performed. Patient 4, a 13-year-old girl, had learning difficulties at school and attended a special class. Three patients received left lateral liver segments, and 1 patient received a left lobe. Biliary reconstruction was completed with duct-to-duct anastomosis. Bile leakage developed at the anastomosis in 2 patients, which was treated successfully with cholangioplasty. In all patients, the unconjugated bilirubin concentration normalized by day 1 posttransplantation, and no phototherapy was necessary. After transplantation, the 2-month-old infant with suspected encephalopathy exhibited hypotonia, spasticity of the lower extremities, and lack of head control. He died after vomitus aspiration during sleep at 10 months posttransplantation. The other 3 patients are alive with normal neurodevelopmental milestones. Irreversible brain damage may occur early in the course of Crigler-Najjar syndrome type 1. Urgent treatment including plasmapheresis, exchange transfusion, phototherapy, and liver transplantation may not reverse brain damage. Young infants must be evaluated carefully for subtle signs and symptoms of bilirubin encephalopathy. Liver transplantation is curative if performed before development of neurologic dysfunction.

Effects of respiration on left ventricular diastolic function in healthy children.

Pulsed Doppler echocardiographic indices of mitral valve filling were measured in 20 healthy children, between 3 and 12.5 years old, in order to evaluate the effects of spontaneous respiration on left ventricular diastolic filling patterns. There were significant respiratory variations in four parameters of left ventricular diastolic function: The peak early filling velocity, the ratio of early to late peak filling velocity, and the ratio of early to late diastolic velocity-time integral decreased significantly during inspiration (mean decrease 7%, P < 0.05; 16%, P < 0.01; and 12%, P < 0.05, respectively). On the other hand there was a significant increase in late peak filling velocity with inspiration (10% increase, P < 0.05). Other variables of left ventricular diastolic filling were unchanged with inspiration. These results suggest that assessment of left ventricular diastolic function in children should be standardized with regard to respiratory phases in any clinical application.