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The recent volumetric neuroimaging studies in children with fragile X syndrome, Down syndrome (DS), Rett syndrome (RS), and Tourette syndrome (TS) were reviewed. Neuroimaging studies and cognitive and behavioral phenotypes pertinent to each disorder were reviewed within the context of current knowledge of their neurobiological mechanisms. The mainly involved brain regions in fragile X syndrome are the cerebellar vermis, temporal areas, and the caudate nucleus which may be related to autistic tendency, problems of memory and language and deficits in executive function, respectively. The preferential involvement of frontal lobe, cerebellum and mesial temporal areas may correspond to the selective language and speech deficits in DS children. There was significantly generalized cerebral volume reduction with greater loss of gray matter in comparison to white matter, consistent with the extensive clinical features of RS. Right side predominance of basal ganglia supported the suggestion that the basal ganglia is related to pathogenesis of TS, which may also be related to the impaired executive function and the absence of functional asymmetry. Further prospectives for integrating neuroanatomic findings and neurobehavioral studies also were discussed.

The Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS) has been recommended as a useful diagnostic tool for cognitive delay. To provide wider application of this instrument as a general screening tool for pediatricians, a normative percentile graph from a large convenience sample of Chinese infants has been established. The effects of environmental factors on early language and adaptive development were also analyzed. A total of 402 normal infants aged 4 to 36 months attending well-child clinics were recruited. These infants were from all socioeconomic strata, and half were bilingual with Mandarin and Taiwanese. Grandmothers were the chief caretakers or co-caretakers in 28% of this population. The milestones were attained in a sequential and orderly fashion. In contrast to the adaptive ability, there was a wide variation in language acquisition between age 12 and 24 months. Multiple stepwise regression of demographic and environmental factors revealed that age was the main variance in CAT score (P = 0.0001). In CLAMS score, however, age and caretakers were the significant predictors (P = 0.0001). Infants cared for by both mothers and grandmothers had higher CLAMS score by two months over those cared by mothers only (P = 0.001). Those cared for by grandmothers only had lower language score than those by mothers only, though without statistical significance (P = 0.05). Bilingualism, birth order, numbers of siblings, familial structures, and parental socioeconomic status had no effect on early development.

Nine patients below 20 years of age (4 males and 5 females), who were diagnosed to have acute disseminated encephalomyelitis (ADEM) by clinical findings and magnetic resonance imaging (MRI), were reviewed retrospectively. They ranged from 4 months to 20 years of age with an average of 8.6 years. Seven patients (78%) received neurophysiological studies, which included electroencephalography, multimodality evoked potentials (EPs), nerve conduction velocity and/or F-wave measurement. The presentation symptoms were mainly headache, vomiting, consciousness change and motor deficits. Seven (78%) of nine patients had symptoms preceded by fever or upper respiratory tract infections; one (11%) was preceded by trivalent mumps, measles, rubella vaccination and no definite predisposing factor was found in another. Computed tomography (CT) scans were abnormal in five (71 %) of seven children, while MRI showed multiple lesions in seven (78%) of nine children. The lesions in MRI were mainly in the brainstem (n = 6), basal ganglion (n = 5), thalamus (n = 4), periventricular white matter (n = 4) and cerebellum (n = 4). EPs disclosed spinal cord involvement in all patients who received the examination. Peripheral neuropathy was disclosed in one patient. It was concluded that associated radiculoneuropathy is possible in patients with ADEM. Both MRI and neurophysiologic studies are complementary for diagnosis of ADEM.

Four female children with clinically-definite diagnoses of multiple sclerosis (MS) were studied with multimodal evoked potentials (EPs), electroencephalogram (EEG), cerebrospinal fluid (CSF) analysis, computed tomography (CT) and magnetic resonance imaging (MRI). Correlations among the clinical features, neuroimaging and neurophysiological studies were also evaluated. Their ages of the onset ranged from 5 to 11 years. The clinical evolution in the all four MS cases was relapsing-remitting form. MRI studies in three cases showed abnormal demyelinating plaques in the brainstem, cerebellum and white matter of the cerebrum. CT examination, performed in the other MS case, did not reveal hypodensic lesion. Despite that MRI failed to document optical nerve lesions, three cases had abnormal visual evoked potentials (VEPs). Somatosensory evoked potentials (SSEPs) were abnormal in three cases. Brainstem auditory evoked potentials (BAEPs) were abnormal in two cases presenting with signs of brainstem dysfunction. The conclusion was that paraclinical evidences obtained from MRI and multimodal evoked potential studies are of value as an aid in localizing involved areas and detecting silent lesions in children with MS.

Supraventricular tachycardia (SVT) is the most common cardiac arrhythmia in children. Atrioventricular (AV) reciprocating tachycardia utilizing an accessory pathway and AV nodal reentrant tachycardia (AVNRT) constitute a majority of SVTs. Radiofrequency energy ablation has recently become the treatment of choice in adults. Initial experience in pediatric patients in this Institute is reported in this study. Six consecutive patients (aged 5-22 years, mean age 13 years; 3 boys, 3 girls) with narrow-QRS SVT were studied from July to October in 1993. They had experienced symptomatic SVT for a mean period of five years (ranged from 1 to 15 years). Anti-arrhythmic agents, including beta-antagonists and calcium channel blockers, were unable to satisfactorily suppress these SVTs. Four of the six patients were shown to have a left-sided concealed accessory connection as the retrograde limb of the reentrant circuit. After identification of the earliest retrograde activation site, a steerable 7F catheter with a 4-mm-long electrode at the distal tip was placed within the left ventricle and positioned against the atrio-ventricular annulus. Another two patients were proved to have AVNRT. The ablation catheter was placed at the posterior/inferior aspect of the tricuspid annulus and guided by putative slow potential. Radiofrequency current was delivered at a power from 15 to 25W for four to six times with a mean duration of 40 seconds in patients with AV reciprocating tachycardia, and a single time in those with AVNRT. All six SVTs were successfully ablated. No complication was noted in any patient. Follow-up for three to seven months has indicated no recurrence of SVT.(ABSTRACT TRUNCATED AT 250 WORDS)

A female newborn with characteristic multiple anomalies of Ellis-van Creveld syndrome is reported. Common atrium with Ebstein's malformation of the tricuspid valve was diagnosed by serial echocardiographic examinations. Such a combination of cardiac anomalies have not previously been reported in this syndrome.

Streptococcus bovis is a veterinary organism rarely previously reported in the neonatal infection. Two cases are presented of neonatal infection by this organism; one case manifested with meningitis and the other, with sepsis. Seizure and respiratory distress were the symptoms found in these two babies, respectively. Following adequate treatment, recovery was complete, and the infants enjoyed healthy lives post-discharge. S. bovis is always sensitive to penicillin, but resistant strain has been reported recently. It is reasonable to treat infant patients infected by this organism with a combined initial therapy of penicillin and aminoglycoside. After the minimal inhibitory concentration and minimal bactericidal concentration of antibiotic has been determined, penicillin or ampicillin can be used alone.

The symptoms of right-sided diaphragmatic hernia (RDH) rarely occur in the newborn period. The present report described a two-day-old neonate who presented with symptoms of respiratory distress and sepsis. Early onset group B beta-hemolytic streptococcal (GBBS) infection was diagnosed and RDH was found subsequently. A defect with smooth margin, sized 3 x 5 cm, located in posterior-lateral aspect of right diaphragm was observed during operation. After having been given antibiotics and surgical treatment, the infant recovered and was discharged in good condition. He has normal development at the age of one year. Possible pathogenesis is discussed in this report.

A retrospective study of the clinical features and management of 27 newborns with meningitis is presented. All were treated in the China Medical College Hospital between July 1981 and July 1988. Seven were premature and twenty were full term. There were 11 males and 16 females. Five infants had low birth weight (less than 2500 g) and 12 cases were diagnosed in the first week of life (early onset). E.coli was the predominant pathogen. The most common presenting manifestations were nonspecific in nature-fever, poor feeding, respiratory distress and poor activity, etc... Six patients died during the period of acute illness and the case fatality rate was 22.2%. Of the 21 patients who survived, six had sequelae (four hydrocephalus, one subdural effusion, one microcephaly), giving an over-all rate of 19 percent in the survivors. The presence of gram-negative bacterial infection and high protein content in CSF correlated significantly with the higher mortality rate.