Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

Background: Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. However, they still present residual muscle weakness. In the present study, we used longitudinal muscle magnetic resonance imaging (MRI) to determine whether this condition is progressive. ;Materials and methods: A cohort of classic IOPD patients who were diagnosed through newborn screening were treated with recombinant human acid a-glucosidase (rhGAA) and followed prospectively from birth. The trunk (and abdominal wall), pelvis and upper thighs were scanned for muscle MRI every 2-3 years. Seven groups of muscles were individually scored from 0 to 4 based on the extent of their involvement, and the sum was correlated to the clinical manifestations. ;Results: Twenty-four MRI scans from a total of 12 neonatally treated IOPD patients were analyzed in the present study. The median age at the time of MRI scanning was 4.2 years (13 days to 9 years). High intensity over the quadriceps on T2-weighted and short-tau inversion recovery images was observed in all scans and was followed by a decrease in muscle mass. Trunk muscle involvement was slower, except in one patient who exhibited progressive psoas atrophy. Among the 10 patients for whom follow-up scans were repeated more than 2 years after the first scan, four patients (40 %) showed increased myopathy severity. ;Conclusion: This prospective muscle MRI study provides evidence for the occurrence of slow, progressive muscle damage in neonatally treated IOPD patients during childhood. New treatment strategies are necessary to improve outcomes in these patients

Using Volume Index and Lateral Hepatic Angle to Differentiate Biliary Atresia From TPN-Associated Cholestasis

Objectives: Differential diagnosis between biliary atresia (BA) and total parenteral nutrition-associated cholestasis (TPN-AC) and early treatment for cholestatic infants are challenges for evaluating neonatal or infantile cholestasis. The aim of our retrospective study was to apply noninvasive indices of magnetic resonance images to differentiate BA from TPN-AC. ;Methods: A total of 44 patients diagnosed as having BA (n = 30) or TPN-AC (n = 14) were included in the present retrospective study and underwent abdominal magnetic resonance imaging to evaluate the possibility of BA. The left lateral hepatic angle was determined from the coronal image of the left portal vein and portal vein of segment II. Adjusted volume indices of the right hepatic lobe (AVIR) and left lateral segment (AVILL) were calculated as the product of 3 diameters (centimeters) divided by each patient's body weight. ;Results: The left lateral hepatic angles of patients with BA (74 degrees +/- 21 degrees) were significantly larger than for patients with TPN-AC (33 degrees +/- 9 degrees) and controls (36 degrees +/- 5 degrees, P < 0.05). AVILL of the BA (0.037 + 0.012 cm(3)/g) and TPN-AC groups (0.042 +/- 0.030 cm(3)/g) were not significantly different (P = 0.61) but were significantly larger than for controls (0.020 +/- 0.011 cm(3)/g) (P < 0.05). The right hepatic lobe to left lateral hepatic segment ratio (RLR) of patients with BA was significantly (P < 0.05) smaller (1.61 +/- 0.58) than for patients with TPN-AC (3.08 + 2.43) and controls (2.98 + 0.92). Patients with BA could have relative sparing and selective enlargement of the left lateral liver with a resultant lobar difference and blunt left lateral hepatic angle. ;Conclusions: Noninvasive indices of lobar difference and left lateral hepatic angle help differentiate patients with BA from those with TPN-AC

Hepatic ADC map as an adjunct to conventional abdominal MRI to evaluate hepatic fibrotic and clinical cirrhotic severity in biliary atresia patients

Hepatic apparent diffusion coefficient (ADC) values and ADC-related indices were correlated with the Mayo risk score for primary biliary cirrhosis (MRSPBC) and METAVIR scores of liver specimens to determine the clinical and pathological significance of diffusion-weighted magnetic resonance imaging (DWMRI). Thirty-two patients with biliary atresia (BA; mean age 461 days, range 11-4616 days) received magnetic resonance examinations from March 2009 to August 2013. A free-breathing DWMRI sequence was performed with the single-shot echo-planar imaging technique with b = 0 and 500 s/mm(2) in all 32 BA patients and 24 controls. We used the ordinal logistic regression test and Spearman rank correlation test to analyse the relationships between the MRSPBC and METAVIR fibrosis scores and right liver-to-psoas ADC ratios (LTPARs). BA patients had significantly lower LTPARs in both hepatic lobes than controls (p < 0.01). Right LTPARs, showing moderate intraobserver agreement (intraclass correlation coefficient = 0.736) and interobserver reliability (intraclass correlation coefficient = 0.659), were negatively correlated with MRSPBC and METAVIR fibrosis scores (R (2) = 0.398, p = 0.024 and R (2) = 0.628, p < 0.001, respectively). Right LTPARs may be used for long-term follow-up of cirrhosis severity in BA patients. Hepatic ADC values by DWI correlates well with clinical/pathologic fibrosis scores Periodic, non-invasive, quantitative imaging follow-up of patients with biliary cirrhosis is feasible Information on cirrhosis severity could help decide on management options in children with BA ADC values may be useful in this regard

Computed tomography indices and criteria for the prediction of esophageal variceal bleeding in survivors of biliary atresia awaiting liver transplantation

Background/Objective: About 20% of biliary atresia (BA) survivors have attacks of esophageal variceal bleeding. We propose a method to evaluate the risk of esophageal variceal bleeding (EVB) using noninvasive indices by multislice computed tomography (CT). Methods: We reviewed 31 potential living-related liver recipients aged 99–5314 days (mean, 1474 days) who underwent CT examinations using a 64-slice multislice CT scanner. Of the 31 patients, 19 patients (Group A) with fecal occult blood had EVB on esophagogastroduodenoscopy; the rest belonged to Group B. Splenic diameters (mm) were divided by body heights (m) and platelet counts (1000/mm3) to produce standardized ratios of transverse splenic length/body height/platelet count (SLHPR). The transverse diameters of paraesophageal veins (PVs) and perigastric veins (PGVs) were measured adjacent to the lower thoracic esophagus and within the lesser sac, respectively. Results: According to a receiver operating characteristic curve analysis, the SLHPRs (r=0.833), transverse PV (r=0.957), and PGV (r=0.987) diameters were better predictors of EVB than demographic and laboratory variables. However, the transverse diameters of PGVs and PVs were the most accurate predictors of the EVB. Conclusion: For candidates awaiting liver transplantation, screening by noninvasive SLHPR and the transverse diameters of PGVs and PVs by CT may help to identify BA patients with a high risk of EVB

Less-invasive MR indices of clinically evident esophageal variceal bleeding in biliary atresia patients

Esophageal variceal hemorrhaging is potentially life threatening for long-term survivors of biliary atresia. We evaluated the feasibility of less-invasive parameters for predicting the presence of clinically significant esophageal variceal bleeding in biliary atresia patients. Methods: A total of 30 patients aged 108–5314 days (median = 285 days) with biliary atresia underwent a magnetic resonance examination with fast spin-echo T2-weighted imaging and spin-echo, T1-weighted images with fat saturation after use of a contrast medium on a 1.5-tesla scanner. The splenic length-platelet ratio was divided by the each patient's body height (m) to produce the corrected splenic length-platelet ratios. In addition, the splenic volume index-to-platelet count ratio was divided by the patient's body weight (kg) to produce a corrected ratio. Results: The corrected splenic length-platelet ratio was more significantly increased in 21 patients with esophageal variceal bleeding (Group A) than in nine patients without variceal bleeding [(Group B) 0.98 ± 0.64 vs. 0.44 ± 0.18, p < 0.01]. The splenic volume index-to-platelet count ratio corrected by body weight was significantly larger in Group A (510.7 ± 536.2) than in Group B (148.1±88.9, p < 0.01). Conclusion: Less-invasive indices, including the corrected splenic length platelet ratio and the splenic volume index-to-platelet count ratio, may be valuable predictors of esophageal variceal bleeding in patients with biliary atresia

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

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

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