Steven Shinn-Forng Peng

Serial measurements of serum alkaline phosphatase for early prediction of osteopaenia in preterm infants.

Aim:  Osteopaenia commonly occurs in preterm infants; however, its diagnosis is often delayed when based on radiological findings. The aim of this study was to examine whether serial measurements of bone turnover markers are useful for early prediction of osteopaenia in preterm infants.

Cerebral diffusion tensor images in children with tuberous sclerosis: a preliminary report.

BackgroundIn tuberous sclerosis (TS), tubers usually involve the white matter. Diffusion tensor (DT) images are used to demonstrate white-matter tracts.ObjectiveTo determine the changes in DT indices in supratentorial tubers and associated changes in the white-matter tracts adjacent to tubers in patients with TS.Materials and methodsThe DT imaging indices, including first, second and third eigenvalues (EVs), apparent diffusion coefficients (ADCs), and fractional anisotropy (FA) in the white-matter lesions of tubers, were assessed in seven patients with TS exhibiting developmental delay and compared with controls.ResultsEV1, EV2, EV3, ADC and FA of the white-matter lesions of tubers were significantly different from contralateral unremarkable regions of the brain and from controls (P<0.05). The number of frontal and parietal tubers was significantly negatively correlated with EV1 of the superior longitudinal fasciculi of TS patients (r=−0.60, P =0.04). In addition, TS patients had significantly larger ADCs in the corona radiata and sagittal stratum than the control subjects. EV3s of the inferior longitudinal fasciculus and sagittal stratum were significantly more increased in the TS patients than in the control subjects.ConclusionsEV1, EV2, EV3, ADC and FA maps are potential tools for demonstrating cerebral white-matter changes owing to TS.

Management of Congenital Cystic Adenomatoid Malformation and Bronchopulmonary Sequestration in Newborns

BACKGROUND Congenital cystic adenomatoid malformation (CCAM) and bronchopulmonary sequestration (BPS) are major embryonic pulmonary developmental anomalies. Early surgical excision is becoming an increasingly common option. We investigated the clinical features and management of patients with CCAM and BPS at the National Taiwan University Hospital. METHODS We conducted a retrospective review of neonates diagnosed with CCAM and/or BPS at the Hospital from July 1995 to January 2008. Prenatal examination, postnatal presentation, management and patient outcome were analyzed. We also propose a concise algorithm for the practical management of these conditions. RESULTS Sixteen patients were recruited including eight (50%) with CCAM, five (31%) with BPS and three (19%) with mixed-type lesions (CCAM with BPS). Thirteen (81%) patients were diagnosed antenatally at a median gestational age of 20 weeks. Eleven (69%) patients underwent surgical resection before 6 months of age because of respiratory distress or repeated pulmonary infection. There were no surgery-related complications among the seven patients who underwent early surgery within 1 month of age. Five (31%) patients remained asymptomatic and did not undergo surgery. All patients survived with no limitations to daily activity during follow-up periods of 1-8 years. CONCLUSION The high proportion of mixed-type lesions suggests that CCAM and BPS may share the same developmental ancestry. Early surgical resection within 1 month of age is safe in symptomatic patients.

Early epileptic encephalopathy with suppression burst electroencephalographic pattern – an analysis of eight Taiwanese patients

Early epileptic encephalopathy with suppression burst (SB) comprises two distinct epileptic syndromes, early infantile epileptic encephalopathy (EIEE) and early myoclonic encephalopathy (EME). We reviewed etiologies, neurological outcome and clinico-electroencephalographic features of EIEE and EME. Chart records of early epileptic encephalopathy with SB from January 1997 to December 2000 were reviewed. These cases fulfilled the diagnostic criteria of EIEE and EME. Totally eight patients (four females, four males) were enrolled. They consisted of three cases of EIEE and five cases of EME. The follow-up periods ranged from 6 to 30 months. For EIEE, two cases had migrational disorders, and one was cryptogenic; for EME, three cases had non-ketotic hyperglycinemia (NKH), one was pyridoxine dependency and one was cryptogenic. The main initial seizure patterns were tonic spasms in EIEE, and were erratic myoclonus in EME. The age of seizure onset ranged from 26 h to 5 days after birth for EIEE, and 2 h to 7 days of life for EME. The SB pattern in the electroencephalography (EEG) was noted mainly during sleep state in EME, but in both awake and sleep states in EIEE. Asymmetric SB pattern and background activities in EEG were found in migrational disorders. The EEG in all cases of EIEE changed to hypsarrhythmia at 4-6 months of age. In EME, only the EEG in cases of NKH evolved to hypsarrhythmia. Response to anti-convulsants was generally poor. All had severe psychomotor retardation. Although EIEE and EME share several common features, differences in terms of seizure seminology and evolution, EEG patterns and etiologies still exist.

Holt–Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene†

Yu-Ru Tseng, Yi-Ning Su, Frank Leigh Lu, Suh-Fang Jeng, Wu-Shiun Hsieh,* Chien-Yi Chen, Hung-Chieh Chou, and Steven Shinn-Forng Peng Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, ROC Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, and Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, ROC School and Graduate Institute of Physical Therapy, National Taiwan University College of Medicine, Taipei, Taiwan, ROC Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, ROC

Mesenteric lipoblastoma: case report.

Abstract. We present a rare case of mesenteric lipoblastoma in a 16-month-old girl. The US, CT and MRI features of this unusual tumour are described and correlated with the pathology findings. MRI more clearly suggested the presence of fat components in the tumour. In addition, multiplanar MR images demonstrated the anatomical extent better, which was essential for successful complete tumour excision.

Diabetes mellitus in patients with thalassemia major

Diabetes mellitus is a major endocrinopathy for patients with thalassemia major. Although diabetes mellitus is multifactorial, iron loading is its primary cause and its management poses a clinical challenge. Detecting the pre‐diabetes stage is critical because clinical diabetes can potentially be reversed or prevented.

Risk for Tuberculosis in Child Contacts. Development and Validation of a Predictive Score

RATIONALE Contact investigation of persons exposed to tuberculosis (TB) is resource intensive. To date, no clinical prediction rule for TB risk exists for use as a guide during contact investigation. OBJECTIVES We sought to develop and validate a simple and easy-to-use predictive score for TB risk, using data routinely available during contact investigation. METHODS The derivation cohort consisted of 9,411 children aged 0 to 12 years from 2008 to 2009 national contacts cohort. We used a multivariate Cox proportional hazards model to predict the risk of developing active TB. The validation cohort consisted of 2,405 children from the 2005 national contacts cohort. We calculated area under the receiver operating characteristic curves of the model as well as the predicted risk of TB for contacts with different scores. MEASUREMENTS AND MAIN RESULTS An 8-point scoring system was developed, including reaction to tuberculin skin test of the contacts, as well as smear-positivity, residence in high-incidence areas, and sex of the index cases. Area under the receiver operating characteristic curve was 0.872 (95% confidence interval, 0.810-0.935) for the derivation cohort and 0.900 (95% confidence interval, 0.830-0.969) for the validation cohort. The risk of developing active TB within 3 years is 100, 7.8, 4.3, 1.0, 0.7, and 0.2% for contacts with risk scores of 7, 6, 5, 4, 3, and 2, respectively. CONCLUSIONS A risk predictive score was developed and validated to identify child contacts aged 0 to 12 years at increased risk for active TB. This predictive score can help to prioritize active case finding or isoniazid preventive therapy among children exposed to TB.

Computed tomography of children with pulmonary Mycobacterium tuberculosis infection

Surveillance and control of tuberculous infection in pediatric patients, especially in those with a contact history, is important to prevent tuberculous infection in the general population. Totally 26 patients, younger than 14 years of age, who had a diagnosis of pulmonary Mycobacterium tuberculosis (TB), underwent both chest radiographs and computed tomography (CT), which were retrospectively reviewed and compared with those of 20 patients with community-acquired bacterial pneumonia (CABP). TB patients were commonly afebrile and had less cavitating lesions or pleural fluid than CABP patients had. Focal or sub-segmental lung opacities suggested the diagnosis of TB than of CABP. Chest CT could also help to identify enlarged, calcified, necrotic mediastinal lymph nodes, which are less frequently found in CABP and frequently obscured by thymic shadows on chest radiographs of children. Low-dose CT for children or infants suspected to have pulmonary TB infection could help to make the decision of further antibiotic treatment.

Schizencephaly: Correlation between Clinical and Neuroimaging Features

Schizencephaly is an uncommon congenital brain malformation. We report our experience of 13 patients with schizencephaly and evaluate the clinical, neuroradiologic, electroencephalographic (EEG), and nosological features. Of these 13 patients, 8 were unilateral forms, 5 were bilateral forrms and 11 were open-lip type schizencephaly. One patient was proven to have cytomegalovirus (CMV) infection. The clinicalfeatures and neurodevelopmental outcomes are variable. Although seizure developed in 9 patients (5 patients from unilateral and 4 from bilateral forms), the severity of epilepsy was not totally related to the degree of malformations. The neurodevelopmental outcome depended on the extent of schizencephaly as well as the seizure control. Those with bilateral forms and intractable seizures had the worst outcome. Other central nervous system (CNS) anomalies were observed in 11 patients. Six out of 11 patients had focal cortical dysplasia. We conclude that children with schizencephaly usually have variable neurological impairment. Earlier diagnosis of schizencephaly and related CNS malformation with neuroimaging is helpful in predicting the neurodevelopmental outcomes in these patients.