320 Slice CT in Imaging of Congenital Heart Diseases in Infants: A Single-Center Experience.

Objective The study was conducted to evaluate the best possible imaging technique for neonatal cardiac imaging including optimal injection techniques, intravenous line placement, expected radiation dose, and need for sedation while performing the study on a 320 slice Toshiba® Aquilion ONE® scanner. Study results can be used to optimize imaging parameters for maximum clinical yield. We provide representative images of our cases. Methodology Cardiac CTs performed on infants less than one year of age at the time of study were evaluated. Data collection included radiation dose, duration of the scan, heart rate, type and route of contrast injection, need for sedation or general anesthesia and quality of study including image contrast and motion artifacts. Results Average age of infants at the time of scan was approximately two months. Prospectively gated volumetric scans performed within one heartbeat with a single gantry turn formed the majority of studies. Average effective dose was below 1 mSv. Several patients were scanned without any sedation. Most studies were deemed diagnostic and of superior quality on a 4-point scale. Qualitative image analysis revealed an excellent intraclass correlation between two raters. Conclusion Parameters needed for successfully performing cardiac CTs with a high degree of diagnostic quality in neonates were identified. For infants below a year hand injection of Isovue 300 in a 24 G peripheral upper extremity IV line with real-time contrast bolus monitoring and manual start to scanning is adequate when being scanned on a 320 slice Volumetric scanner with prospective auto-target EKG gating. Sedation may not be necessary for infants when wrap and feed techniques and free breathing are employed. Radiation doses utilizing this technique were uniformly low.

Cranial Suture Evaluation on Routine Pediatric MRI.

PURPOSE: The efficacy of magnetic resonance imaging (MRI) for evaluating sutures has not been well studied. CT with 3-dimensional reformats is currently the preferred modality for imaging the major cranial sutures. The role of MRI is primarily is for evaluating the brain for any concurrent malformations. Our objective was to evaluate the reliability of MRI when compared to CT for evaluation of cranial sutures. METHODS: A list of 500 consecutive patients who underwent an MRI as well as a CT study was obtained. Studies were done between January 2011 and December 2016. The inclusion criteria required the 2 studies to be performed within 3 months of each other. All MRI studies were reviewed by a pediatric neuroradiologist to determine whether the sagittal, coronal, and lambdoid sutures were patent, fused or could not be assessed with confidence. In cases where a confident determination could not be made, the studies were reviewed with another pediatric neuro-radiologist and a decision made in concurrence. The CT scans were then evaluated in a similar fashion, after the MRI review was completed. The CT and MRI results were then compared to determine the accuracy of the MRI in assessing the sutures. RESULTS: Mean age of the studied children was 8.54 years. Seventy-two percent of the sagittal sutures were seen. When seen the sagittal suture was correctly identified in 98% of cases as either fused or patent. The lambdoid suture was seen in 94.3% of studies and was correctly designated as patent or fused in 99.6% of that subset of cases. The coronal suture was seen in 66.3% of the cases and when seen was always (100%) correctly designated. The probability of agreement between MRI and CT increased with age. The probability of sutures which were not seen decreased with age. The false negative and positives remained low for all ages. CONCLUSIONS: MRI is a viable tool for detection of cranial sutures. The 3-dimensional T1 Weighted sequence was particularly useful in suture evaluation. Although the visibility of sutures is inferior to that on a CT scan, if detected, the accuracy scan is fairly accurate in establishing fusion vs patency. It should be a part of routine surveillance on every pediatric neuro MRI study given the neurocognitive implications of incidental sutural synostosis.

Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease.

Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered. This case also illustrates the role of full thickness rectal biopsy in selected cases such as ours where the radiologic features are typical of Hirschsprung's, despite negative suction biopsies.

Childhood hypophosphatasia with homozygous mutation of ALPL.

OBJECTIVE: To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia. METHODS: Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented. RESULTS: A 13-year-old male presented with chronic left knee pain. Radiogram of the left knee indicated two oval radiolucent lesions in the femoral metaphysis. Serum alkaline phosphatase activity (17 U/L) was markedly below normal (42 to 362 U/L). Serum pyridoxal 5' phosphate (258 µg/L) was above normal (5 to 50 µg/L). Sequence analysis of ALPL gene indicated a homozygous missense mutation c.1077 C>G (p. I359M). The mutation was previously identified in a case of perinatal hypophosphatasia with severe skeletal abnormalities in contrast to the mild phenotype of the patient we present. CONCLUSION: The case of homozygous mutation of ALPL gene but mild form of hypophosphatasia suggests that functions of the mutated protein may be modified by other factors.