Infectious causes of encephalitis and meningoencephalitis in Thailand, 2003-2005.

Acute encephalitis is a severe neurologic syndrome. Determining etiology from among ≈100 possible agents is difficult. To identify infectious etiologies of encephalitis in Thailand, we conducted surveillance in 7 hospitals during July 2003-August 2005 and selected patients with acute onset of brain dysfunction with fever or hypothermia and with abnormalities seen on neuroimages or electroencephalograms or with cerebrospinal fluid pleocytosis. Blood and cerebrospinal fluid were tested for >30 pathogens. Among 149 case-patients, median age was 12 (range 0-83) years, 84 (56%) were male, and 15 (10%) died. Etiology was confirmed or probable for 54 (36%) and possible or unknown for 95 (64%). Among confirmed or probable etiologies, the leading pathogens were Japanese encephalitis virus, enteroviruses, and Orientia tsutsugamushi. No samples were positive for chikungunya, Nipah, or West Nile viruses; Bartonella henselae; or malaria parasites. Although a broad range of infectious agents was identified, the etiology of most cases remains unknown.

Etiologies of central diabetes insipidus in children : 15 years experience in Songklanagarind hospital, Thailand.

Central diabetes insipidus (DI) is a rare disease in children. The authors retrospectively reviewed the records of children with central DI identified at Songklanagarind Hospital from 1985 to 2000. Of the total 29 patients identified, 16 patients were males and 13 were females. All patients received computed tomography or magnetic resonance imaging of the brain to differentiate the etiologies of central DI. The median age at diagnosis was 6.6 years (range 1.5-14.9). The etiologies of central DI were intracranial tumors in 7 patients (24.1%), histiocytosis in 3 patients (10.3%), septooptic dysplasia in 1 patient (3.5%), empty-sella syndrome in 1 patient (3.5%), pituitary abscess in 1 patient (3.5%), and idiopathic in 16 patients (55.1%). All patients with idiopathic central DI were followed-up for a median duration of 4.5 years (range 1.3-15.5). Three of 16 patients (18.8%) were found to have intracranial tumors at 1.3, 2.3, and 3.5 years of follow-up. It was also observed that the patients whose age at presentation was less than 5 years (histiocytosis was excluded) were less likely to have intracranial tumors than those older than 5 years, (0% vs 55%), with significant statistical difference (p<0.01). It is concluded that: 1) the common etiologies of central DI are intracranial tumor and idiopathic, 2) patients initially diagnosed with idiopathic central DI need to have long-term follow-up by magnetic resonance imaging to identify any occult intracerebral tumor.

Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

PURPOSES: To perform CDKL5 mutation screening in Thai children with cryptogenic infantile intractable epilepsy and to determine the clinical sensitivity of CDKL5 screening when different inclusion criteria were applied. METHODS: Children with cryptogenic infantile intractable epilepsy were screened for CDKL5 mutation using multiplex ligation-dependent probe amplification and DNA sequencing. The clinical sensitivity was reviewed by combining the results of studies using similar inclusion screening criteria. RESULTS: Thirty children (19 girls and 11 boys) with a median seizure onset of 7 months were screened. Almost a half had infantile spasms and one fifth had stereotypic hand movements. A novel c.2854C>T (p.R952X) was identified in an ambulatory girl who had severe mental retardation, multiple types of seizures without Rett-like features. Her mother had a mild intellectual disability, yet her grandmother and half sister were normal despite having the same genetic alteration (random X-inactivation patterns). The pathogenicity of p.R952X identified here was uncertain since healthy relatives and 6 female controls also harbor this alteration. The clinical sensitivity of CDKL5 mutation screening among females with Rett-like features and negative MECP2 screening was 7.8% while the clinical sensitivity among females having cryptogenic intractable seizures with an onset before the ages of 12, 6 and 3 months were 4.7, 11.6 and 14.3%, respectively.