Nonketotic hyperglycinemia in two siblings with neonatal seizures

Seizures are a common problem in neonates. Differential diagnoses include infection, trauma, hypoxia and congenital metabolic disorders. Among these, congenital metabolic disorder is less familiar to general pediatricians. We report two patients with nonketotic hyperglycinemia (NKH), a rare and lethal congenital metabolic disease. Transient hyperammonemia and transient hypouricemia, uncommon features found in NKH, were detected in one patient. High doses of sodium benzoate and dextromethorphan failed to modify the clinical course. Neuropathology denoted characteristic diffuse vacuolization and changes in reactive and gliotic astrocytes. The clinical course, biochemical findings, diagnostic approaches and diagnostic tests are discussed in detail. Recent modalities of treatment are reviewed. Because of its rarity and rapidly progressive course, it maybe underdiagnosed resulting in death before being recognized. Awareness of the possibility of congenital metabolic disorder in early neonatal catastrophe will increase the diagnostic rate.     

Migraine in Thai children: prevalence in junior high school students

A cross-sectional study to determine the prevalence of migraine in seventh grade Thai students in 4 junior high schools in Bangkok, Thailand, according to the diagnostic criteria of the second edition of the Classification of Headache of the International Headache Society was conducted in July 2004. The study included a screening self-administered questionnaire and face-to-face interview with physical examination. The diagnosis of migraine was made and confirmed by 2 pediatric neurologists. All of 1789 students in participating schools completed the questionnaire. After 2 interviews, 248 students (13.8%) were diagnosed with migraine. The prevalence in girls was higher than that in boys (16.2% vs 11.7%). Migraine as having aura was diagnosed in 34 students (13.7%). One student had sporadic hemiplegic migraine. Among 248 children, 176 (71%) reported the duration of headache between 1 and 2 hours. The leading precipitating factor of migraine was the stress related to daily school activities (17.7%). There were 32 students (12.9%) with frequent and intense headache who were referred to their primary physicians for further management. This study had disclosed a high prevalence of migraine in seventh grade Thai students in Bangkok City and reflected the existing burden of this illness in Thai students.     

Acute disseminated encephalomyelitis: A 10-year cohort study in Thai children

Childhood acute disseminated encephalomyelitis (ADEM) is a demyelinating disease with variable clinical courses and outcomes. Its evolution to multiple sclerosis in Asian children is yet to be determined. Medical records, investigation results and magnetic resonance imaging of brain of Thai children aged less than 15 years with initial diagnosis of ADEM at a referral university hospital in Thailand from January 1997 to December 2006 were reviewed. Clinical course and the outcome were finalized by telephone interview, self-report questionnaire, and/or neurological examination by December 2008. Modified Rankin Score was applied for determination of disability. MRI findings were categorized along with the locations and number of areas of abnormalities shown by T2-weight and FLAIR. 16 patients consisting of 5 boys and 11 girls (age-range 1–14 years, mean 6.9 ± 3.6 years, median 6 years) were identified. Nine patients had cranial nerve dysfunctions including one child with optic neuropathy. One patient died with confirmed pathological diagnosis of ADEM. Among the remaining 15, who were followed from 2 to 10 years (mean 5.8 years), 13 and 3 patients were classified into monophasic ADEM and multiple sclerosis, respectively. Ten of 13 with final diagnosis of ADEM had complete recovery. There was no association between number of lesions or location in the initial MRI and the outcome and final diagnosis. ADEM in Thai children had similar clinical presentation and outcome to previous studies in Western countries. ADEM can occasionally evolve to multiple sclerosis in Thai children as being shown in previous reports from other Asian countries.     

Pericardial effusion in primary systemic carnitine deficiency

Summary A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.−77G>A, c.−78C>T, and p.S95S) were identified in the patient. Electronic supplementary material Supplementary material is available for this article at     

Migraine in junior high-school students: A prospective 3-academic-year cohort study

Migraine is a common childhood illness with expected favorable outcome. A study of the long-term clinical course of childhood migraine will provide information of evolution of migraine. A cohort study for 3-academic-year was conducted in Thai junior high-school children from July 2005 to February 2008 to determine the clinical course of migraine. Two hundred and forty-eight students in four junior high schools diagnosed with migraine according to ICHD-II in July 2005 were recruited. Each student was serially evaluated twice yearly from 7th grade during each semester of the academic year until the second semester of 9th grade. Determination of the characteristics, severity, frequency, and treatment of headache were obtained by questionnaire and direct interview. At the final evaluation, clinical course of headache was categorized into seven patterns. Among enrolled students, 209 (84.3%) completed the study. Twenty-eight (13.5%) students had no recurrent headache while that of 153 (73.5%) improved. No improvement of migraine and worsened migraine were observed in four students (1.8%) and 24 students (11.2%), respectively. Spontaneous remission and avoidance of precipitating causes contributed to relief of migraine in the majority of the students. Stress-related daily school activities and inadequate rest were reported as common precipitating factors among students with non-improving or worsening outcome. Chronic daily headache and tension-type headache was observed in 6 and 30 students, respectively. This study confirms that clinical course of migraine in schoolchildren is benign. Frequency and intensity of headache can be reduced with reassurance and appropriate guidance. Early recognition and appropriate prevention of migraine attack will decrease the risk of chronic migraine and disease burden.     

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficiency of the lysosomal enzyme glucocerebrosidase. Three clinical phenotypes, type 1, nonneuronopathic; and types 2 and 3, acute and subacute neuronopathic are recognized. The incidence of Gaucher disease in the Thai population is unknown, but likely under-diagnosed. We performed molecular analysis in four patients, from three sibships, with type 3 Gaucher disease. Four mutant glucocerebrosidase (GBA) alleles were identified including two novel splice site mutations, IVS6-1G>C and IVS9-3C>G; both are predicted to result in truncated protein products, p.F255fsX256, and p.K464fsX487 and p.S463fsX480, respectively. One patient, homozygous for the L444P point mutation, had a "Norbottnian-like" phenotype, with more severe visceral involvement, kyphosis, barreled chest, and no neurological involvement other than supranuclear gaze palsy. These molecular studies of neuronopathic Gaucher disease will provide additional genotype-phenotype correlation particularly in non-Caucasian population.     

Multicentric anaplastic astrocytoma in a child.

We report a rare case of anaplastic astrocytoma with multicentric central nervous system lesions in a 10-year-old girl presenting with a 1-month history of progressive headache and paraparesis. Neurological examination upon admission revealed papilloedema of both eyes and grade 2/5 weakness of both legs. Cranial and spinal magnetic resonance imaging revealed multiple tumour foci within the suprasellar region, cerebellar hemisphere, cervical and thoracic cords. After an uneventful laminectomy and excision of the tumour at the T8-9 level, a significant improvement of motor function was observed. The histological diagnosis was anaplastic astrocytoma based on the WHO classification. The patient received postoperative radiotherapy and chemotherapy, and was able to walk with the aid of auxiliary crutches. Despite being an uncommon disease in children and being associated with an unfavourable long-term outcome, early diagnosis and appropriate management of this condition may contribute to reduced patient morbidity.     

Intrathecal production of measles-specific IgA in subacute sclerosing panencephalitis

Objective - We measured measles-specific IgA in matched pairs of cerebrospinal fluid (CSF) and sera of patients with subacute sclerosing panencephalitis (SSPE), multiple sclerosis (MS), other central nervous system (CNS) infectious diseases (INF) and other neurological diseases (OND) by using enzyme linked immunosorbent assay. Materials and methods - CSF and sera from 23 patients with SSPE, 15 with MS, 14 with INF, and 15 with OND were included in the study. Results - The ratios of measles-specific IgA in CSF to serum were increased in SSPE patients compared to patients with MS, INF or OND. Conclusion - The data indicate a local production of measles-specific IgA in the CNS of SSPE patients.     

West syndrome in Thailand: a hospital-based survey.

The prevalence of West syndrome in Thailand had not been studied. During January 1997 to December 1999, at the Department of Pediatrics, Ramathibodi Hospital, Bangkok, Thailand, of the total 628 first seen epileptic patients, aged 0-15 years, 31 patients (4.9%) with West syndrome were encountered. Sixteen were males. The mean age at presentation was 9.7 months (range 4-32 months) and at seizure onset was 5.7 months (range 2-11 months). Twenty-two patients had typical spasms, four each had generalized tonic seizures and focal seizures prior to the onset of infantile spasms, and another patient had myoclonic seizures. Nineteen patients were classified as symptomatic. Electroencephalogram revealed hypsarrhythmia in six patients, multifocal independent epileptiform discharges in 24 patients, and focal epileptiform discharges in four patients. Abnormal brain-imaging findings were demonstrated in six of the 11 patients investigated. Vigabatrin was given to 17 patients whereas one patient was given valproate. Others who had been severely retarded were given phenobarbital in combination with benzodiazepine. Six patients were lost to follow-up. Of the remaining patients, the duration of follow-up ranged from 7 to 44 months (mean 28 months). Infantile spasms disappeared in 11 patients, persisted in six patients, and changed to other form in eight patients. The developmental outcome was apparently normal in five, slightly delayed in four, moderately delayed in ten, and severely delayed in eight patients.