Long-term clinical observation of patients with heterozygous KIF1A variants.

KIF1A-related disorders (KRDs) encompass recessive and dominant variants with wide clinical variability. Recent genetic investigations have expanded the clinical phenotypes of heterozygous KIF1A variants. However, there have been a few long-term observational studies of patients with heterozygous KIF1A variants. A retrospective chart review of consecutive patients diagnosed with spastic paraplegia at Miyagi Children's Hospital from 2016 to 2020 identified six patients with heterozygous KIF1A variants. To understand the long-term changes in clinical symptoms, we examined these patients in terms of their characteristics, clinical symptoms, results of electrophysiological and neuroimaging studies, and genetic testing. The median follow-up period was 30 years (4-44 years). This long-term observational study showed that early developmental delay and equinus gait, or unsteady gait, are the first signs of disease onset, appearing with the commencement of independent walking. In addition, later age-related progression was observed in spastic paraplegia, and the appearance of axonal neuropathy and reduced visual acuity were characteristic features of the late disease phenotype. Brain imaging showed age-related progression of cerebellar atrophy and the appearance of hyperintensity of optic radiation on T2WI and FLAIR imaging. Long-term follow-up revealed a pattern of steady progression and a variety of clinical symptoms, including spastic paraplegia, peripheral neuropathy, reduced visual acuity, and some degree of cerebellar ataxia. Clinical variability between patients was observed to some extent, and therefore, further studies are required to determine the phenotype-genotype correlation.

Usefulness of central radiologic review in clinical trials of children with hepatoblastoma.

BACKGROUND: No previous research papers have reported a comparative survey of local radiologic diagnoses and central review in children with hepatoblastoma. OBJECTIVE: To evaluate the utility of central review of children with hepatoblastoma enrolled in a clinical trial. MATERIALS AND METHODS: The study included 91 children enrolled in a clinical trial conducted by the Japanese Study Group for Pediatric Liver Tumor. We compared the results of the initial pre-treatment extent of tumor (PRETEXT) disease staging performed at local sites with the results obtained on central review to determine the concurrence rates for tumor staging and additional criteria. RESULTS: The concurrence rate for PRETEXT staging was 70%. As the stage increased, the concurrence rate decreased. Using additional criteria, central review identified 143 lesions (157.1%), about 1.8 times higher than the number identified for the local site diagnoses. The additional criterion found most often on central review was "multifocal lesion" (n=19). The concurrence rate for lung metastases was high. However, our central review found many false-positive assertions of hepatic vein lesions, portal vein invasion and extrahepatic lesions among the local site diagnoses. CONCLUSION: In a clinical trial of hepatoblastoma, central review provided a more precise diagnosis than local site diagnoses with respect to severe PRETEXT stages III and IV cases and other cases including hepatic and portal vein invasion. The central review process appears to be effective and essential for improving the quality of clinical trials.

"Follow the Fallopian tube": A technique to improve sonographic identification of ovaries in children.

Ovary detection is the first step in confirming ovarian lesions. The daughter cyst sign is widely used for this purpose; however, it is not always applicable. Recent improvements in image resolution allow Fallopian tube delineation, which can serve as a guide to identify the ovary. This anatomical approach ("follow the Fallopian tube" technique) comprises three steps: (1) confirm the uterus; (2) follow the Fallopian tube; and (3) find the ovary. Other applications of this approach include the differentiation between nonovarian and ovarian masses and ruling out ovarian torsion and an auto-amputated ovary.

Nevus lipomatosus cutaneous superficialis on the shoulder: A case report with MRI findings.

Nevus lipomatosus cutaneous superficialis is a rare disease, and its magnetic resonance imaging features have not been reported. A 1-year-old male infant was admitted to our hospital for examination of a mass on his right shoulder. Magnetic resonance imaging revealed hypertrophic skin and a lipomatous subcutaneous mass, consistent with a hamartoma-like lesion or mesenchymal tumor; after surgery, the tumor was pathologically diagnosed as nevus lipomatosus cutaneous superficialis. To the best of our knowledge, this is the first case report focusing on the magnetic resonance imaging features of this disease. Hypertrophy of all skin structures involved (epidermis, dermis, and subcutaneous fat) may be specific to nevus lipomatosus cutaneous superficialis, enabling its differentiation from other tumors.

Usefulness of Diffusion-Weighted Magnetic Resonance Imaging Using Apparent Diffusion Coefficient Values for Diagnosis of Infantile Hemangioma.

OBJECTIVE: The objective of this study was to determine whether apparent diffusion coefficient (ADC) values obtained from diffusion-weighted imaging allow differentiation between infantile hemangiomas (IHs) and malignant soft tissue tumors. METHODS: A retrospective review was performed on magnetic resonance images of pediatric patients with IHs and malignant soft tissue tumors from January 2014 to December 2016, which comprised 7 patients with 8 IHs and 6 patients with 6 malignant soft tissue tumors. We calculated and compared the ADC values of each lesion. Receiver operating characteristic curve analysis was performed to determine a cutoff value for the ADC. RESULTS: There was a statistically significant difference between the ADC values of IHs and those of malignant soft tissue tumors (1.32 [1.27-1.72] × 10 mm/s vs 0.67 [0.57-0.79] × 10 mm/s; P < 0.001), with no overlap between the 2 groups. CONCLUSIONS: The ADC values obtained from diffusion-weighted imaging were useful in differentiating IHs from malignant soft tissue tumors in pediatric patients.

Dynamic Compression-A New and Practical Technique for the Sonographic Diagnosis of Enteric Duplication.

OBJECTIVES: This study aims to examine the utility of dynamic compression and other sonographic signs in diagnosing enteric duplication. METHODS: This study reviewed real-time sonographic findings from ultrasound examinations performed by the author between April 2015 and March 2017, including 4 consecutive cases of enteric duplication and 7 cases of other abdominal cysts (control group). The ability of dynamic compression to separate the lesion from the adjacent intestine was analyzed, as were other sonographic signs, including the 5-layer sign, peristalsis, and the split-wall sign. RESULTS: The 5-layer sign and peristalsis were seen in only 1 of 4 cases of enteric duplication. The split-wall sign was positive in all 4 cases of enteric duplication. In a case of gastric duplication, the split-wall sign was not detected during the first examination. One case showed an atypical white split wall, and 3 cases showed a pseudo-split wall; however, this pseudo-split wall was differentiated from the true split-wall sign using dynamic compression. The dynamic compression technique correctly differentiated enteric duplication from other abdominal cysts in all but 2 cases (82%). CONCLUSIONS: The 5-layer sign and peristalsis were not sensitive for enteric duplication. The split-wall sign may have the highest sensitivity and specificity for enteric duplication, but finding this sign is technically difficult and interpretation is complicated by atypical variations. Dynamic compression differentiated enteric duplication from other abdominal cysts with 82% accuracy, and this technique was simple to perform and easier to interpret than the split-wall sign.

Plicae palmatae on MRI in the pediatric population.

PURPOSE: To examine the presence of ridge of plicae palmatae (RPP) in pediatric population and evaluate its depiction rate and appearance on magnetic resonance imaging (MRI). MATERIALS AND METHODS: Consecutive pelvic MRI examinations of female patients aged 0-19 years between January 2005 and April 2017 were retrospectively reviewed. Patients with underlying diseases affecting the uterus and whose MRI data were not available on the picture archiving and communication system were excluded. Thus, 171 pelvic MRI cases were included (mean patient age, 11 years). Morphologic appearance of RPP was evaluated. RPP depiction rate was evaluated in the following age groups: group A, 0-2 years; B, 3-6 years; C, 7-10 years; and D, 11-19 years. Pearson Chi square test or Fisher's exact test was used to assess statistical significance of differences in RPP visualization frequencies between the groups using SPSS for Windows, version 11.0.0.1 J. Statistical significance was set at P < 0.05. RESULTS: RPP appeared as a folded structure rather than tumorous in all cases. Depiction rate varied according to age: group A, 8/21 (38.1%); B, 0/16 (0%); C, 6/24 (25.0%); and D, 62/110 (56.4%). Depiction rate in group B was the lowest and significantly lower than those in groups A and D. However, RPP was most frequently observed in group D, and was significantly more frequent than in groups B and C. CONCLUSION: RPP could be observed on MRI in a pediatric population, and careful interpretation is necessary in such cases, although no case with tumorous appearance was observed. Depiction rate varies according to age, probably reflecting uterine maturity.

Plicae palmatae in neonates: tumor mimic on sonography.

Plicae palmatae are uterine cervical folds that can be misdiagnosed as a uterine septum on magnetic resonance imaging (MRI). Previous studies in the literature generally tend to include only adults and are limited to MRI findings. Here, we present the case of a 6-day-old girl with a tumorous lesion in her uterine isthmus on sonography. Although we considered uterine tumor as a differential diagnosis, the smooth surface and continuity with a cervical fold on the caudal side suggested that the lesion was, in fact, the tip of plicae palmatae. MRI was subsequently performed, and no restricted diffusion was found, which was useful in ruling out a malignant tumor. Our case highlights that plicae palmatae in neonates can mimic a tumor on sonography. Meticulous observation of a continuity with a cervical fold is essential for correct diagnosis.

Image quality and radiation dose of low-tube-voltage CT with reduced contrast media for right adrenal vein imaging.

OBJECTIVES: To compare image quality and radiation dose of right adrenal vein (RAV) imaging computed tomography (CT) among conventional, low kV, and low kV with reduced contrast medium protocols. METHODS: One-hundred-and-twenty patients undergoing adrenal CT were randomly assigned to one of three protocols: contrast dose of 600mgI/kg at 120-kV tube voltage setting (600-120 group), 600mgI/kg at 80kV (600-80 group), and 360mgI/kg at 80kV (360-80 group). Iterative reconstruction was used for 80-kV groups. Signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of the RAV and size-specific dose estimates (SSDE) were measured. Three radiologists evaluated 4-point visualisation scores of RAV by consensus reading. RESULTS: The RAV detectability was 95%, 97.2%, and 97.3% for 600-120, 600-80, and 360-80 groups, respectively (p=1.000). Visualisation scores were not significantly different among the groups (p=0.152). There were no significant differences in CNR or SNR between the 600-120 and 360-80 groups. SSDE of the 360-80 group was significantly lower than that of the 600-120 group (5.86mGy±1.44 vs. 7.27mGy±1.81, p<0.001). CONCLUSIONS: 80-kV scans with 360 mgI/kg contrast media showed comparable detectability of RAV to conventional scans, while reducing 19% of SSDE.

Ultrasonography of pediatric urogenital emergencies: review of classic and new techniques.

Urogenital emergencies are fairly common in the pediatric population, and a timely and correct diagnosis is necessary to avoid possible future infertility. In this field, ultrasonography is essential, as it has the advantages of being radiation-free and readily accessible. In particular, a high-frequency transducer allows precise evaluation of the morphology and vascularity of the scrotum, which is on the surface of the body. Beyond conventional techniques, new advanced imaging techniques have been developed, including elastography and contrast-enhanced ultrasonography. However, several pitfalls remain in the diagnosis of urogenital diseases using ultrasonography. Thus, accurate knowledge and sufficient experience with the technique are essential for making a correct diagnosis. This review provides an overview of pediatric urogenital emergency pathologies and recent ultrasonography techniques.

Lupus enteritis during pregnancy: A case-based review.

Although the symptoms of systemic lupus erythematosus (SLE) worsen during pregnancy, few previous studies have reported lupus enteritis in pregnant women with SLE. A 29-year-old pregnant Japanese woman presented with acute abdomen. Six years before pain onset, she developed pure red cell aplasia and tested positive for anti-Ro (SS-A) and anti-La (SS-B) antibodies. Anti-DNA antibodies were detected two and a half years later. The patient remained asymptomatic until she developed acute abdomen. A mild increase in anti-DNA antibody levels and a mild decrease in complement levels were observed, and abdominal ultrasound and magnetic resonance imaging revealed the presence of large-volume ascites and edematous thickening of the small intestinal wall. These findings established the diagnosis of lupus enteritis. Her condition improved after treatment with prednisolone 50 mg/day, and she delivered a female infant weighing approximately 1810 g at 37 weeks of gestation. Our study suggests that lupus enteritis should be suspected in female patients with autoimmune disease who develop acute abdomen during pregnancy, and that magnetic resonance imaging is useful in its diagnosis.

A case of absence of extrahepatic portal bifurcation in biliary atresia.

The absence of extrahepatic portal bifurcation is a rare anomaly and is considered to be caused by anomalous development of the portal vessels early in fetal life. The portal system develops from two main fetal vessels, the left umbilical vein and right vitelline vein. An anomalous connection of these two vessels early in fetal life results in the absence of bifurcation of the portal vein. We report a case who suffered from biliary atresia complicated with the absence of bifurcation of the portal vein. The patient had an anomalous left hepatic portal vein that ran along the cranial side of the hepatic hilar ductal plate. This is the first report of biliary atresia that was complicated with the absence of extrahepatic portal bifurcation.

Differentiation of femoral and inguinal hernias on the basis of anteroposterior relationship to the inguinal ligament on multidimensional computed tomography.

PURPOSE: The purpose of this study was to evaluate whether multidimensional computed tomography (MDCT) can be used to differentiate between types of groin hernias, specifically femoral and inguinal hernias, based on their anteroposterior relationship to the inguinal ligament. MATERIALS AND METHODS: We retrospectively analyzed 75 groin hernias of 71 patients, including 28 femoral and 47 inguinal hernias. We diagnosed hernias prolapsing anterior to the inguinal ligament as inguinal hernias and those passing posterior to the ligament as femoral hernias. RESULTS: In 74 of 75 cases, femoral and inguinal hernias were correctly differentiated from each other based on MDCT. In one case of a "sign of aggregation" of an inguinal hernia, the anteroposterior relationship to the inguinal ligament could not be evaluated because the hernia existed superior to the ligament. CONCLUSIONS: Femoral and inguinal hernias that extend caudal to the inguinal ligament can be differentiated based on their anteroposterior relationship to the inguinal ligament using MDCT.

Perforated and nonperforated appendicitis: defect in enhancing appendiceal wall--depiction with multi-detector row CT.

PURPOSE: To retrospectively evaluate the accuracy of multi-detector row helical computed tomography (CT) with intravenous contrast material and without oral contrast material for depiction of perforated appendicitis. MATERIALS AND METHODS: This study was approved by the institutional review board; informed consent was waived. CT images in 102 patients (60 male patients, 42 female patients; age range, 4-82 years; mean age, 37.3 years) with surgically and pathologically proved appendicitis who were examined between January 2000 and December 2002 were retrospectively reviewed. Original transverse sections at 3- or 2-mm collimation and 1.5- or 1.0-mm intervals were viewed by using cine mode observation. Two independent observers evaluated five specific findings (defect in enhancing appendiceal wall, abscess, phlegmon, extraluminal air, and extraluminal appendicolith). Sensitivity, specificity, and accuracy of the specific findings in the diagnosis of perforated appendicitis were evaluated. RESULTS: Perforated appendicitis was present in 40 patients, and nonperforated appendicitis was present in 62 patients. A defect in the enhancing appendiceal wall was present in 38 patients in the perforated group. Two patients in the nonperforated group had false-positive findings for a defect in the enhancing appendiceal wall. Sensitivity, specificity, and accuracy of this finding in the diagnosis of perforation were 95.0%, 96.8%, and 96.1%, respectively. Sensitivities for abscess, extraluminal air, and extraluminal appendicolith were 37.5%, 22.5%, and 32.5%, respectively. These three findings were not found in patients with nonperforated appendicitis. Phlegmon was seen in 16 patients in the perforated group and in three patients in the nonperforated group. Sensitivity, specificity, and accuracy of phlegmon in the diagnosis of perforation were 40.0%, 95.2%, and 73.5%, respectively. CONCLUSION: Multi-detector row CT allows an accurate (96.1%) diagnosis of appendiceal perforation by the depiction of a defect in the contrast material-enhanced appendiceal wall.

Types and frequencies of biliary tract variations associated with a major portal venous anomaly: analysis with multi-detector row CT cholangiography.

PURPOSE: To retrospectively determine whether major portal venous variation was more frequently associated with biliary variants, with consideration of the types and frequencies of biliary tract variations in the right and left liver lobes. MATERIALS AND METHODS: Before undergoing computed tomographic (CT) cholangiography, patients gave informed consent. The retrospective research protocol was approved, and informed consent was waived by the ethics committee. Forty-four patients aged 29-80 years who underwent multi-detector row CT cholangiography had a major portal vein variation in which the main portal vein diverged into the common trunk of the left portal vein and right anterior sectorial portal vein. One hundred fifty-eight consecutive patients aged 26-89 years who did not have this variation served as the control group. Three radiologists retrospectively evaluated the confluence pattern of the bile duct, the relationship between this pattern and the portal vein, and the major branching pattern of the portal vein. Pearson chi2 and Fisher exact tests were performed to identify significant differences between the two patient groups. RESULTS: The classic hilar confluence pattern, where the right posterior sectorial duct connects supraportally with the right anterior sectorial duct, was less frequent in the patients with the portal vein variation than in the control subjects (32% vs 73%, P < .05). The following biliary tract variations were identified more frequently in the variation group than in the control group (P < .05): right posterior sectorial duct joining left hepatic duct with a supraportal course (34% vs 12%), right posterior sectorial duct joining right anterior sectorial duct with an infraportal course (13% vs 4%), right posterior sectorial duct following an infraportal course (23% vs 8%), and left lateral segmental ducts caudal to the umbilical portion of the portal vein (14% vs 3%). The right hepatic duct, which receives all biliary ducts from the right lobe, was significantly less frequently developed in the variation group (46% vs 79%, P < .05). In addition, retroportal bile ducts were seen in four patients with the portal vein variation (P < .05). CONCLUSION: Bile duct configurations in patients with portal vein variation were significantly different from those in control subjects.

Heterogeneity of subvesical ducts or the ducts of Luschka: a study using drip-infusion cholangiography-computed tomography in patients and cadaver specimens.

The objective of this study was to examine the heterogeneity of the subvesical duct or the ducts of Luschka as well as the reliability of drip-infusion cholangiography with computed tomography (DIC-CT) for their identification. DIC-CT was used in 277 consecutive patients (135 men, 142 women) and for the dissection and histologic study of 10 cadaver livers. We found 32 subvesical ducts in 28 (10.1%) of 277 patients. Irrespective of whether the terminals were extra- or intraparenchymal, the subvesical ducts often (17/32 ducts, 15/28 patients) drained into a subsegmental duct of S5 or S4. Notably, some displayed an "intermediate" course along the gallbladder fossa with an intraparenchymal origin and terminated at S5. Such ducts tended to be seen in the elderly. Another 15 ducts drained into a thick, centrally located duct, such as the right sectorial or hepatic duct. The anatomic study demonstrated that the subvesical duct likely included the cystic vein-concomitant duct. A major type of subvesical duct, characterized by an intermediate course along its bed, appeared to result from degenerative exposure of a peripheral duct with aging. The subvesical duct draining into the thick duct included both a "daughter branch," such as seen in the lung, and the so-called anomaly. Such ducts can be demonstrated with DIC-CT, but the incidence might be limited. However, the cystic vein/concomitant duct was difficult to identify radiologically. Consequently, although presurgical radiology is useful for avoiding bile leakage after laparoscopic cholecystectomy, surgeons should be aware of its limitations.

Spiegel's lobe bile ducts often drain into the right hepatic duct or its branches: study using drip-infusion cholangiography-computed tomography in 179 consecutive patients.

Using drip-infusion cholangiography-computed tomography (DIC-CT), we successfully identified the bile ducts draining the caudate lobe in 138 of 179 consecutive patients with extrahepatic cholelithiasis (179 ducts from Spiegel's lobe and 154 from the paracaval portion; 1-5 ducts per patient). The dorsal subsegmental duct of S8 (B8c) was often identified and could be discriminated from the paracaval caudate ducts, thus acting as a landmark for the right margin of the caudate lobe. Notably, in more than one-third of the 138 patients, at least one of the Spiegel's lobe ducts drained into the right hepatic duct or its branches (30.2% of the 179 ducts overall; all ducts joined branches of the right lobe in 25 patients). Similarly, 34.4% of the 154 paracaval caudate lobe ducts drained into the left hepatic duct or its branches. These "anatomical left/right dissociations" between the drainage territory and route were much more frequent than previously reported. Our results confirm the effectiveness of DIC-CT as a classical, noninvasive method for presurgical evaluation of the biliary system, but they also suggest that anatomical partial resection of the dorsal liver in patients with hilar cholangioma is often impossible because of contralateral biliary drainage.