Diffusion tensor imaging of children with malignant phenylketonuria

本研究應用擴散張度影像以彰顯罹患惡性苯丙酮尿症兒童之大腦白質變化。 本研究對象為十二例經早期治療且穩定的罹患惡性苯丙酮尿症兒童，評估其擴散張度 影像變化包括 first, second and third eigen values (EVs), apparent diffusion coefficients (ADCs), and fractional anisotropy (FA) in the fronto-parietal, parieto-occipital, frontal and central white matter, and the anterior as well as posterior corpus callosum 以及智力商數並 與年齡相當知健康兒童比較。本研究發現大於三歲的研究群與對照群在EV2, EV3 and FA of the parieto-occipital white matter areas 有明顯差異。此外，在parieto-occipital 白質的 EV3 and ADC of the parieto-occipital white matter 與 verbal intelligence quotient (VIQ; r = -0.79, p = 0.04), and performance intelligence quotient (r = -0.93, p = 0.03), 分別有顯著負 相關. 然而， FA of the parietal central white matter 則與 VIQ 有正相關(r = 0.75, p = 0.05)。Purpose: Diffusion tensor images (DTIs) are used to demonstrate the supratenorial white matter changes of malignant phenylketonuria (PKU) patients. Materials and Methods: The intelligence and diffusion tensor imaging parameters (including first, second and third eigen values (EVs), apparent diffusion coefficients (ADCs), and fractional anisotropy (FA) in the fronto-parietal, parieto-occipital, frontal and central white matter, and the anterior as well as posterior corpus callosum were assessed in 12 early-treated, chronic, stable malignant PKU patients. Results: Our findings indicated that EV2, EV3 and FA of the parieto-occipital white matter areas were significantly different in study and control groups of patients older than three years of age. In addition, EV3 and ADC of the parieto-occipital white matter were significantly negatively correlated with verbal intelligence quotient (VIQ; r = -0.79, p = 0.04), and performance intelligence quotient (r = -0.93, p = 0.03), respectively. FA of the parietal central white matter was positively correlated with VIQ (r = 0.75, p = 0.05). Conclusion: Though treated early, these chronic, stable malignant PKU patients still had abnormal DT tensor imaging findings in the parieto-occipital central white matter. EV2, EV3 and FA maps are potential tools for demonstrating brain changes stemming from malignant PKU

Prenatal Three-Dimensional Ultrasound and Magnetic Resonance Imaging Evaluation of a Fetal Oral Tumor in Preparation for the Ex-Utero Intrapartum Treatment (Exit) Procedure

Recent attempts at predelivery management of obstructed fetal airways have focused on the EXIT (ex-utero intrapartum treatment) procedure, which allows sufficient time to secure the fetal airway through preservation of uteroplacental gas exchange. We report a fetus with an exophytic oral tumor noted at 34 weeks of gestation. In this case, three-dimensional (3D) ultrasound allowed a complete and interactive evaluation of the tumor and related facial anatomy, and confirmed that access to the fetal airway was unlikely during delivery. Fetal magnetic resonance imaging ( MRI) further demonstrated that the tumor originated in the nasopharynx and obstructed the upper airway. Both imaging results led to a final decision to offer an EXIT procedure for the neonate. At 36 weeks' gestation, a successful EXIT procedure was performed to reduce the risk of respiratory distress immediately after birth. This report highlights the value of 3D ultrasound and MRI as essential prerequisites for optimization of the triage process in selecting EXIT candidates. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd

兒童腦膜腦炎之擴散影像

Purpose: The objective of the study was to evaluate the maps of apparent diffusion coefficients (ADCs) and diffusion- weighted (DW) images in demonstrating meningoencephalitic lesions in children. Materials and methods: Between May 1998 and May 2000, 18 infants and children (4.5-190 months old) suffering from meningoencephalitis were included in the study. The diagnoses were bacterial meningoencephalitis in 8 and aseptic or viral in 10 patients. All 18 patients had brain MRI examinations. In the axial plane, three pulse sequences were performed on all patients: (1) FSE T2W images ; (2) fast FLAIR images; (3) single-shot echoplanar DW images were acquired. Another 18 patients from the control group also received DW image examination. ADCs were computed for all regions on each DW image. Results: The absolute values of CNRs of lesions on T2W (7.27 +/- 5.51), FLAIR (5. 56 +/- 5.03) and DW (13.36 +/- 16.64) images were significantly greater than those on ADC maps (0.42 +/- 0.30) in the study group of patients (P<.01). In addition, absolute CNRs on DW images were significantly greater than on T2W and FLAIR images (P<.01). However, lesions on ADC maps in the study group have significantly greater CNRs than in the control group (0.13 +/- 0.12) (P<.01). CNRs on initial DW images from patients with atrophy or swelling of meningoencephalitic lesions were significantly different from the CNRs of those patients without significant changes in meningoencephalitic lesions (P=.02 less than or equal to. 05). Conclusion: The DW image is a sensitive tool for detecting meningoencephalitic lesions and is better than FSE T2W and fast FLAIR images in CNRs. Diffusion MR techniques provides new ways to possibly predict the outcome of intracranial infectious diseases in children. (C) 2002 Elsevier Science Inc. All rights reserved

Application of Fluid-Attenuated Inversion Recovery Pulse Sequence in Children with Tuberous Sclerosis

To evaluate the application of Fluid-Attenuated Inversion Recovery (FLAIR ) pulse sequence to increase the sensitivity of detecting tubers in tuberous sclerosis patients compared with fast spin-echo T2-weighted (FSET 2W) image, we obtained 12 magnetic resonance (MR) images in 10 patients ( mean age = 57.7 months old). Among the 12 examinations, 114 cortical and 128 subcortical tubers were revealed on the FLAIR images , whereas 54 and 72 tubers were found respectively on the FSET2W images. This may be due to the FLAIR pulse sequences remarkably attenuated CSF signals in comparison with the FSET2W images. However, FSET2W image delineated more subependymal nodules than FLAIR imaging did. Gd-DTPA enhanced T1W image is the most suitable pulse sequence to detect giant cell astrocytoma near the foramen of Monro. The results in cases of infants and little children were similar

The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex

Background/Purpose: To clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (TSC) in Taiwan. Methods: Medical records from 32 patients with TSC were retrospectively reviewed, including mutational analysis, neuroimaging findings, electroencephalogram findings, and neuropsychiatric comorbidities. Results: Of these patients, six (18.75%) were diagnosed to have autism spectrum disorders (ASD), and 10 (31.25%) were diagnosed to have attention-deficit hyperactivity disorder. In the latter patients, there were no differences in the regional distribution of tuber burden. In addition to a high prevalence of cystic-like tubers, tubers in insular and temporal areas were associated with ASD. Nonsense mutations in the TSC2 gene group had a correlation with autistic behavior. In 26 (81.25%) patients with a history of epilepsy, infantile spasms and partial seizures were the predominant type of epilepsy. Most of them developed seizures prior to age 1 year. Conclusion: ASD is a common comorbidity in TSC. Cortical tubers in the temporal lobe and insular area were associated with ASD. The presence of cystic-like tubers on magnetic resonance imaging may also offer a structural marker for ASD in TSC. Copyright (C) 2014, Elsevier Taiwan LLC & Formosan Medical Association. All rights reserved

Diffusion Tensor Images in Children with Early-Treated, Chronic, Malignant Phenylketonuric: Correlation with Intelligence Assessment

BACKGROUND AND PURPOSE: Diffusion tensor (DT) images can provide information about the nature of white matter changes , including axonal loss and demyelination. We applied DT imaging to verify white matter changes in patients with malignant phenylketonuria (PKU) and to correlate the findings with clinical intelligence quotients (IQs). METHODS : We compared DT images with T2-weighted images in 12 patients with early- treated, chronic, stable malignant PKU and 12 age-matched control subjects . DT parameters included first, second, and third eigenvalues (EV1-3), apparent diffusion coefficients (ADCs), and fractional anisotropy (FA ). Regions of interest were placed the frontoparietal, parietooccipital, frontal and central white matter and in the anterior and posterior corpus callosum. Eight patients older than 3 years underwent IQ assessment including verbal, performance, and full-scale IQ tests. RESULTS: In the eight patients older than 3 years, no definite abnormal signal intensity changes were found on T2-weighted images. EV2, EV3 , and FA of the parieto -occipital white matter were significantly different in patients and control subjects older than 3 years. EV3 and ADC of the parieto-occipital white matter were significantly and negatively correlated with verbal IQ ( r = -0.79, P = .04) and performance IQ (r =- 0.93, P = .03). FA of the parieto-occipital central white matter was positively correlated with verbal IQ (r = 0.75, P = .05). CONCLUSION. Though treated early, patients with chronic, stable malignant PKU had abnormal DT findings in the parieto -occipital central white matter. EV2, EV3, and FA maps are potential tools for demonstrating brain changes due to malignant PKU