DWI Hyperintensity in the Fornix Fimbria on MRI in Children.

BACKGROUND AND PURPOSE: The fornix-fimbria complex is mainly involved in emotions and memory. In brain MR imaging studies of young children, we have occasionally noted DWI hyperintensity in this region. The significance of this finding remains unclear. This study evaluated the DWI signal in the fornix-fimbria complex of children 0-2 years of age, including the frequency of signal hyperintensity and clinical context. MATERIALS AND METHODS: Brain MR imaging of 714 children 0-2 years of age (mean, 11 months), performed between September 2018 and May 2021, was reviewed and evaluated for DWI signal changes in the fornix-fimbria. All children with available MR imaging studies including DWI were included. Children with poor image quality, poor visualization of the fornix-fimbria region, and missing medical data were excluded. Additional imaging findings were also evaluated. Demographic data were retrieved from the medical files. We compared the ADC values of the fimbria and fornix between children with and without signal changes. The unpaired 2-tailed Student t test and χ2 test were used for statistical analysis. RESULTS: DWI signal hyperintensity of the Fornix-fimbria complex was noted in 53 (7.4%) children (mean age, 10 months). Their mean ADC values were significantly lower than those of the children with normal DWI findings (P < .05). About half of the children had otherwise normal MR imaging findings. When detected, the most common abnormality was parenchymal volume loss (15%). The most common indication for imaging was seizures (26.5%). CONCLUSIONS: DWI hyperintensity in the fornix-fimbria complex was detected in 7.4% of children 0-2 years of age. The etiology is not entirely clear, possibly reflecting a transient phenomenon.

Tumours involving the neural foramina in children: beyond neuroblastoma.

AIM: To characterise tumours that involve the neural foramina in children, including prevalence, demographics, and imaging features. MATERIAL AND METHODS: This retrospective single-centre study comprised 36 boys and 34 girls who presented with spinal or paraspinal lesions involving the neural foramina. Two certified radiologists reviewed the imaging features, including the level of spinal involvement, the number of involved foramina, foraminal widening, tumour epicentre, and cord compression. Medical charts were reviewed for patients' demographics and tumour pathology. Tumours were classified as benign or malignant, and neuroblastomas were further classified as low or intermediate risk versus high risk. RESULTS: Thirty-three (47%) of the patients had neuroblastic tumours. Fourteen (20%) of the patients had sarcomas (mainly Ewing sarcoma). Other less common aetiologies included neurofibromas, germ cell tumours, Langerhans cell histiocytosis and haemangiomas. Neuroblastic tumours were particularly common in the thoraco-lumbar region, and considerably less prevalent in the sacral and cervical regions. Additional features, such as foraminal widening, the number of foramina involved, and cord compression, did not help discriminate between neuroblastic and non-neuroblastic tumours. Most tumours (80%) were malignant. Most benign tumours (>50%) were associated with a genetic predisposition syndrome. CONCLUSION: In evaluating neoplasms that involve the neural foramina in children, neuroblastic tumours are most common. Nevertheless, other aetiologies should be considered, mainly sarcomas. Most lesions in children are malignant. When encountering a benign mass, genetic counselling should be considered.

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

The human WW Domain Containing Oxidoreductase (WWOX) gene was originally described as a tumor suppressor gene. However, recent reports have demonstrated its cardinal role in the pathogenesis of central nervous systems disorders such as epileptic encephalopathy, intellectual disability, and spinocerebellar ataxia. We report on six patients from three unrelated families of full or partial Yemenite Jewish ancestry exhibiting early infantile epileptic encephalopathy and profound developmental delay. Importantly, four patients demonstrated facial dysmorphism. Exome sequencing revealed that four of the patients were homozygous for a novel WWOX c.517-2A > G splice-site variant and two were compound heterozygous for this variant and a novel c.689A > C, p.Gln230Pro missense variant. Complementary DNA sequencing demonstrated that the WWOX c.517-2A > G splice-site variant causes skipping of exon six. A carrier rate of 1:177 was found among Yemenite Jews. We provide the first detailed description of patients harboring a splice-site variant in the WWOX gene and propose that the clinical synopsis of WWOX related epileptic encephalopathy should be broadened to include facial dysmorphism. The increased frequency of the c.517-2A > G splice-site variant among Yemenite Jews coupled with the severity of the phenotype makes it a candidate for inclusion in expanded preconception screening programs.

Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.

Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported. The RAG proteins are essential for recombination of B and T cell receptors, and for the survival and differentiation of these cells. This is the first study to report a homozygous deletion of TRAF6 as a cause of human disease.

The globe and orbit in Laron syndrome.

BACKGROUND AND PURPOSE: Patients with LS have an inborn growth hormone resistance, resulting in failure to generate IGF-1. The purpose of this study was to evaluate the size of the eye and orbit in LS. MATERIALS AND METHODS: We retrospectively reviewed the MR imaging of the brain in 9 patients with LS for the following parameters: axial diameter of the globe, interzygomatic distance, perpendicular distance from the interzygomatic line to margins of the globe, medial-to-lateral diameter of the orbit at the anterior orbital rim, distance from the anterior orbital rim to the anterior globe, maximal distance between the medial walls of the orbits, lateral orbital wall angle, lateral orbital wall length, and mediolateral thickness of the intraorbital fat in the most cranial image of the orbit. All measurements were made bilaterally. Twenty patients referred for MR imaging for unrelated reasons served as control subjects. RESULTS: Compared with the control group, the patients with LS had a significantly smaller maximal globe diameter and shallower but wider orbits due to a shorter lateral wall, a smaller medial distance between the orbits, and a larger angle of the orbit. The ratio between the most anterior orbital diameter and the globe was greater than that in controls. The position of the globe was more anterior in relation to the interzygomatic line. CONCLUSIONS: Shallow and wide orbits and small globes relative to orbital size are seen in LS and may be secondary to IGF-1 deficiency.

Hand size and growth in untreated and IGF-I treated patients with Laron syndrome.

UNLABELLED: We have previously reported on the linear growth, growth of the head circumference and foot length in untreated and IGF-I treated patients with Laron syndrome (LS) (primary GH insensitivity). AIM: To assess the size and growth of the hands in patients with LS from early childhood to adult age. PATIENTS: Ten IGF-I treated children with LS (4 M, 6 F) and 24 untreated patients (10 M, 14 F) were studied. METHODS: Measurements of palm length were made on available standardized hand X-rays from infancy to adult age. The measurements were compared to normal references and SD values were calculated for each measurement. The growth of the hand was compared to the concomitant height of the body. RESULTS: Hand SDS in untreated patients with LS decreased with age, from a mean of -2.8 +/- 0.7 (age 1-3 years) to -7.3 +/- 0.8 (age 13-15 years) and to -9.0 +/- 3.9 (age 40-50 years). During 9 years of IGF-I treatment the hand size deficit SDS did not improve in contradistinction to the height SDS which decreased from -6.2 +/- 1.2 to -3.9 +/- 0.5. CONCLUSION: Congenital IGF-I deficiency, as in Laron syndrome, profoundly affects the size and growth of the hand as part of its growth retardation characteristics, resulting in acromicria.

Abnormalities of the axial and proximal appendicular skeleton in adults with Laron syndrome (growth hormone insensitivity).

OBJECTIVE: To investigate abnormalities in the skeleton (with the exclusion of the skull, cervical spine, hands and feet) in patients with Laron syndrome, who have an inborn growth hormone resistance and congenital insulin-like growth factor-1 (IGF-1) deficiency. DESIGN AND PATIENTS: The study group was composed of 15 untreated patients with Laron syndrome (seven male and eight female) aged 21-68 years. Plain films of the axial and appendicular skeleton were evaluated retrospectively for abnormalities in structure and shape. The cortical width of the long bones was evaluated qualitatively and quantitatively (in the upper humerus and mid-femur), and the cortical index was calculated and compared with published references. Measurements were taken of the mid-anteroposterior and cranio-caudal diameters of the vertebral body and spinous process at L3, the interpedicular distance at L1 and L5, and the sacral slope. Thoracic and lumbar osteophytes were graded on a 5-point scale. Values were compared with a control group of 20 healthy persons matched for age. RESULTS: The skeleton appeared small in all patients. No signs of osteopenia were visible. The cortex of the long bones appeared thick in the upper limbs in 11 patients and in the lower limbs in four. Compared with the reference values, the cortical width was thicker than average in the humerus and thinner in the femur. The vertebral diameters at L3 and the interpedicular distances at L1 and L5 were significantly smaller in the patients than in the control subjects (P<0.001); however, at L5 the canal was wider, relative to the vertebral body. The study group had a higher rate of anterior osteophytes in the lumbar spine than the controls had, and their osteophytes were also significantly larger. In the six patients for whom radiographs of the upper extremity in its entirety were available on one film, the ulna appeared to be rotated. In one 22-year-old man, multiple epiphyses were still open. CONCLUSION: Congenital IGF-1 deficiency leads to skeletal abnormalities characterized by small bones, narrow spinal canal, and delayed bone age. The limitation in elbow distensibility common to patients with Laron syndrome may be related to a marked retroversion of the humeral head.

Role of imaging in the diagnosis of acute appendicitis in children.

The aim of the study was to investigate the place of imaging in the diagnosis and treatment of acute appendicitis. The files of 2,427 children with suspected acute appendicitis were reviewed for clinical management and operative findings. The sample was divided into 3 groups at time of admission: (1) before diagnostic imaging was available in our department (1991-1994); (2) after the introduction of imaging studies on a random basis in equivocal cases (1995-1998); and (3) after a policy was formulated for ultrasound use in all equivocal cases followed by computed tomography if necessary (1999-2000). Results showed that the rate of misdiagnosis decreased from 13.2% in group 1 to 6.5% in group 2 and 6.1% in group 3. False-positive findings (normal appendix with positive scan) were noted in 16.7% of group 2 and 25% of group 3; false-negative findings (appendicitis at surgery with negative scan) in 23.8% and 9.5%, respectively. Computed tomography was performed in 8 children and prevented unnecessary surgery in 4 of them. We conclude that in equivocal cases of acute appendicitis, imaging studies performed by skilled operators can improve the accuracy of diagnosis, saving patients unnecessary surgery, and identifying other conditions that mimic appendicitis.

Clinical relevance of non-palpable thyroid nodules as assessed by ultrasound-guided fine needle aspiration biopsy.

It is known from autopsy data that thyroid nodules are far more common than can be detected by palpation alone. With the wide use of modern non-invasive imaging many non-palpable thyroid nodules are discovered but the proper approach to these nodules is still debatable. In a retrospective study, we reviewed the data from 186 US-guided FNA biopsies (US-FNAB) performed between May 1995 and March 1997 at the Sapir Medical Center, Israel, a iodine-sufficient urban area. Sixty-one of the 186 US-FNAB of the thyroid were performed in non-palpable nodules. The mean size of these nodules was 2.4 +/- 1.0 cm (mean +/- SD) ranging from 1.1-5.5 cm. Description of the nodule consistency was available in 53 cases; 42/53 were solid and 11/53 were solid-cystic. FNAB was diagnostic in 46 patients and non-diagnostic in 15. Forty-three of the diagnostic cytology reports were benign, one revealed papillary carcinoma, one had suspicious findings and the third was suspicious for a follicular neoplasm. The last two patients were referred to surgery and a follicular adenoma was found in both. Among the 61 non-palpable thyroid nodules, only one was papillary carcinoma, a prevalence of 1.6%. The other two patients referred to surgery had benign lesions. We found a low prevalence of malignancy in relatively large non-palpable thyroid nodules.

Extrapleural hematoma as an unexpected finding on a follow-up chest X-ray after coronary surgery.

We present two cases of an extrapleural hematoma, on a follow-up chest X-ray after coronary artery bypass surgery using an internal mammary artery (IMA). In both cases, the finding was disclosed on a routine chest film obtained 1 month post-operatively, in a patient who was either asymptomatic or had nonspecific symptoms. Follow-up chest films showed spontaneous resolution in both patients. We emphasize the recognition and significance of such a self-limited post-operative radiological finding.

Urogenital abnormalities in male children with cystic fibrosis.

BACKGROUND: Congenital bilateral absence of the vas deferens (CBAVD) is presumed to occur prenatally and is present in over 99% of adult males with cystic fibrosis (CF). AIMS: To describe ultrasonic features in male children with CF. We aimed to describe urogenital anomalies, comparing pancreatic sufficient and insufficient CF patients. METHODS: Pelvic and scrotal ultrasonography were performed in 12 boys with CF aged 2-12 years and 16 age matched healthy controls. RESULTS: Nine patients had pancreatic insufficiency (PI): seven had two severe mutations and two had unknown mutations. Three boys were pancreatic sufficient (PS), two with splicing mutations (5T and 3849+10kb C-T respectively) and borderline sweat tests. Seminal vesicles were visualised in 5/12 patients and 8/16 controls, compared to non-visualisation reported in all adults with CBAVD. Testicular microlithiasis was found in 4/18 PI, 0/6 PS, and 0/32 control testes, compared to 0.6-1.4% in healthy males and 15% in CF adults; 7/18 PI, 4/6 PS, and 0/32 control testes were smaller than predicted for age. The epididymal head was non-homogeneous with cysts, hypo-, or hyper-echogenicity in 5/18 PI, 1/6 PS, and 0/32 control testes. CONCLUSIONS: Genital abnormalities may occur early in CF, but are less common than described in adults. They are found more often in pancreatic insufficient than in pancreatic sufficient CF patients. However, a positive finding, if present, may aid in the diagnosis of the latter. A larger longitudinal study is recommended to better define the onset and progression of urogenital abnormalities.

Volvulus of the stomach in childhood: the spectrum of the disease.

INTRODUCTION: During a 5-year time frame, five cases of symptomatic gastric volvulus were diagnosed and treated in our department. Four presented with the acute form of gastric volvulus and underwent emergency surgery. The fifth suffered the chronic variant of the syndrome and was benefited by nonoperative management. The cases serve to remind emergency physicians of the spectrum of gastric volvulus. The report supplements the sparse clinical description in the emergency literature. RESULTS: In the operated patients, there were no postoperative complications. The outcome, to the time of publication, has been good in every instance. The history, etiology, presentation, and treatment of the disease are discussed in detail. CONCLUSIONS: Not infrequently, gastric volvulus in children fails to exhibit the full gamut of signs and symptoms such as abdominal distension, vomiting, pain, and retching. For this, as well as for other stated reasons, symptomatic gastric volvulus in infancy and childhood may not be as rare as is commonly assumed.

Ultrasound features of spermatic cord hydrocele in children.

The aim was to evaluate the value of ultrasound diagnosis of spermatic cord hydrocele as a cause of inguinal swelling or mass in children. Clinical and ultrasound (US) findings and surgical procedures of 27 children with spermatic cord hydrocele were reviewed. All children, except one, were referred for US because of suspected inguinal hernia, hydrocele or inguinal mass. In one child, the US examination was performed to confirm the diagnosis of a spermatic cord hydrocele. An encysted hydrocele was diagnosed in 24 out of 27 cases, whereas a funicular type of spermatic cord hydrocele was found in the remaining 3 cases. Internal septa were seen within the fluid mass in four patients. 23 children underwent surgical exploration that confirmed the US diagnosis. Three children with encysted-type hydrocele were only followed clinically and by US, and one was lost from follow-up. US examination is a very sensitive and accurate method for diagnosis of this entity and for exclusion of other lesions in this region.

Prevalence of the juxtaphrenic peak after upper lobectomy.

OBJECTIVE: The purpose of this study was to determine the prevalence of the juxtaphrenic peak after upper lobectomy in a large number of consecutive patients. MATERIALS AND METHODS: Available chest radiographs of 172 of 199 sequential patients who had undergone upper lobectomy in a university hospital were evaluated for the presence of a juxtaphrenic peak. The study included 98 cases with right upper lobectomy and 74 with left upper lobectomy. Radiographs were grouped in three postoperative periods: period I, within 7 days after lobectomy (n = 142); period II, between 8 and 30 days (n = 113); and period III, 31 days or more after lobectomy (n = 101). Four experienced radiologists in consensus determined the prevalence of the "juxtaphrenic peak sign," in relation to age, sex, side of lobectomy, positioning (erect or supine), presence of juxtadiaphragmatic abnormalities, and time interval since surgery. RESULTS: The prevalence of the juxtaphrenic peak sign gradually increased from 40.6% in period I to 71.9% in period III after right upper lobectomy (p < 0.01), and from 19% to 47.7%, respectively, after left upper lobectomy (p < 0.01). Its overall prevalence was significantly higher after right upper lobectomy (58.2%) than after left upper lobectomy (40.5%) (p = 0.02), and on erect chest films (51.4%) than on supine ones (28.9%). CONCLUSION: The prevalence of the juxtaphrenic peak sign increases gradually during the weeks following lobectomy. It is more frequent on erect films and after right upper lobectomy. The juxtaphrenic peak may serve as an additional useful radiologic sign suggesting upper lobectomy.

Minimal pelvic fluid in blunt abdominal trauma in children: the significance of this sonographic finding.

PURPOSE: The aim of this study was to evaluate the significance of the ultrasonographic finding of pelvic fluid after blunt abdominal trauma in children as a predictor of an abdominal organ injury. METHODS: The clinical and imaging data of 183 children with blunt abdominal trauma were reviewed retrospectively. All children had an abdominal sonography as the primary screening study. The ultrasound results were divided into 3 groups: group A, normal examination; group B, pelvic fluid only; group C, peritoneal fluid outside the pelvis. The results of the initial ultrasound examinations were compared with the findings of the CT scan, or a second ultrasound examination or the clinical course during the hospitalization. RESULTS: Group A included 87 children; group B, 57, and group C, 39. Four abdominal organ injuries were missed by the ultrasound examination. The sensitivity and specificity of the ultrasound examinations to predict organ injury in presence of peritoneal fluid outside the pelvis were, respectively, 89.5% and 96.6%; the positive and negative predictive value were 87.2% and 97.3%. No statistically significant difference was seen between group A and group B, whereas the presence of peritoneal fluid outside the pelvic cavity (group C) was associated strongly with an organ injury (P <.001). CONCLUSIONS: A normal ultrasound examination or the presence of pelvic fluid are associated with a low probability of an organ injury. In the presence of peritoneal fluid outside the pelvis, the probability of an organ injury is very high.

Pyelocalyceal diverticulum: the imaging spectrum with emphasis on the ultrasound features.

Clinical and imaging data of 11 patients with pyelocalyceal diverticulum were retrospectively examined. Four patients suffered from ipsilateral flank pain, one from recurrent urinary tract infection and the other six from unrelated symptoms. All patients underwent ultrasound as the initial imaging study. In two cases ultrasound was the only examination performed. Additional imaging studies were obtained in the other nine patients (abdominal radiography in six cases, intravenous urography (IVU) in five and CT in four). Ultrasound suggested the diagnosis of pyelocalyceal diverticulum in eight cases owing to the presence of echogenic and mobile material within the cyst-like lesion. In three cases the ultrasound appearance was similar and indistinguishable from a simple cyst and the diagnosis was made by another imaging study IVU in two cases and CT in one). We suggest that ultrasound examination is the best imaging method for the diagnosis of a pyelocalyceal diverticulum, and no further imaging modalities are required when mobile echogenic material is seen. In uncertain cases, another relatively inexpensive imaging study should be added such as abdominal radiography or IVU.

Malposition of catheters during voiding cystourethrography.

The aim of this study was to report catheter malposition during voiding cystourethrography. Eight hundred forty-three voiding cystourethrography (265 males and 578 females, aged 1 week to 12 years, mean age 2 years) were performed during a period of 4 years. The conventional standard procedure was applied. In 3 cases with passed history of urinary tract infection the catheter entered directly into the ureter. In all these cases the uretero-vesical reflux was present on the same side where the catheter entered. It appears that insertion of a catheter into the ureter is possible only in the presence of an anomaly or pathology at the vesicoureteric junction.

Transient colocolic intussusception.

We present the CT findings of a transient colocolic intussusception, related to an underlying colonic tumor, but remote from it. The resolving nature of intussusception was clearly demonstrated on delayed images and may explain the characteristic chronic clinical symptoms of intussusception in adult.

Progressive liver calcifications in neonatal coxsackievirus infection.

Coxsackievirus group B can cause a severe systemic disease in the perinatal period. Severe manifestations like meningitis, encephalitis, hepatitis, and myocarditis have been previously reported. A case of a twin neonate infected by coxsackievirus group B is described, who developed progressive extensive hepatic calcifications demonstrated by ultrasound and computed tomography with follow-up. Hepatic calcifications in coxsackievirus infection have not been previously reported.