Evaluation of the Liver and Pancreas by 2D Shear Wave Elastography in Pediatric Wilson's Disease.

BACKGROUND: The primary aim of the study was to demonstrate parenchymal changes in the liver and pancreas related to copper accumulation using ultrasound in pediatric patients with Wilson's disease and secondly, to investigate the effectiveness of two-dimensional shear wave elastography in the diagnosis of involvement of these organs. METHODS: Patients with Wilson's disease (n = 25) who were treated and followed at our center were evaluated prospectively. In addition to routine clinical assessments, eye examination, laboratory analyses, and abdominal ultrasound imaging, all patients underwent tissue stiffness measurements from the liver and pancreas (head, body and tail) by two-dimensional shear wave elastography. The data obtained from the WD patients were compared with those of age- and sex-matched healthy controls (n = 37). RESULTS: Liver elastography measurements showed significantly increased tissue stiffness in the patient group than in control subjects (P < .001). While there was no significant difference between the groups in the tissue thickness of pancreatic head, body, and tail, tissue stiffness was significantly reduced in the patient group (P < .001). Disease duration was significantly associated and moderately correlated with liver tissue stiffness (r = 0.417, P = .038) but not significantly associated with pancreatic tissue stiffness. CONCLUSION: In the early stages of Wilson's disease, parenchymal changes occur in the liver and pancreas, which cannot be detected by conventional ultrasonography imaging but may be demonstrated by two-dimensional shear wave elastography. Ultrasound elastography is an easy to use, non-invasive, and promising method that provides numerical data on the early changes in tissue stiffness, allowing for objective monitoring of Wilson's disease patients who require lifelong follow-up.

Ultrasonographic measurement of the dimensions of proximal and distal patellar fragments after Niebauer-King Procedure for the management of congenital dislocation of the knee.

OBJECTIVE: The aim of this study was to ultrasonographically measure the dimensions of the proximal and distalpatellar fragments to determine whether postoperative growth differences existbetween the fragments in children with congenital dislocation of the kneetreated by Niebauer Kings quadricepsplasty. METHODS: This retrospective study included six congenitaldislocated knees of four children with arthrogryposis multiplex congenita (AMC)(3 girls; mean age = 40 months; age range = 9-44 months), presented with severe hyperextension knee contractures,which were treated by Niebauer-King's quadricepsplasty.The transverse, craniocaudal, and anteroposterior dimensions of the patellaewere measured ultrasonographically 20 (range = 6-42) months postoperatively by a singleradiologist. RESULTS: The mean transverse, craniocaudal, and anteroposteriordimensions of proximal and distal halves of the patellae were: 11.46 (7.0-16.9)-10.5 (8.0-14.4); 17.4 (14.0-21.0) -16.68 (14.5-19.3); 6.76 (5.6-7.9) -7.76 (7.0-9.4) mm respectively. There was no significantdifference in craniocaudal and transverse dimensions, but the anteroposteriordimension (thickness) of the distal patellae articulating the knee joint had agreater thickness (P = 0,01). CONCLUSION: Evidence from this study has shown that a bettergrowth can be expected in the distal fragment of the patella compared with theproximal fragment following treatment with Niebauer-King's quadricepsplasty in children with congenital dislocation ofthe knee. LEVEL OF EVIDENCE: Level IV, Therapeutic Study.

A rare cause of granulomatous hepatitis: Tularemia.

Tularemia is a zoonotic infection caused by Francisella tularensis. Tularemia has several clinical form in humans, including ulceroglandular, pneumonic, oropharyngeal, oculoglandular, and systemic (typhoidal). Tularemia may develop granulomatous and suppurative lesions, especially in the affected regional lymph nodes and various organs. Patients with hepatic involvement typically have elevated transaminase levels, hepatomegaly and rarely jaundice. Histologically, there are typically suppurative microabscesses with occasional surrounding macrophages. Rarely, hepatic granuloma can develop due to tularemia. We present a case of an 8 year-old male residing in a rural village in Turkey, who came to our hospital after having intermittent fever for four months and right upper abdominal pain for two months. Liver had a nodular appearance in liver imaging and liver biopsy were consistent with granulomatous hepatitis. The microagglutination test was positive for tularemia in the patient who was investigated for granulomatous hepatitis etiology. Symptoms and signs improved with tularemia treatment. We present a rare case of hepatic involvement of tularemia in a child. Clinicians should be suspicious of and evaluate for typhoidal tularemia in patients who present with prolonged fever and non-specific systemic symptoms, potentially with associated abdominal pain.

Evaluation of high resolution computed tomography findings of cystic fibrosis.

BACKGROUND/AIMS: Morphological changes due to lung disease in patients with cystic fibrosis (CF) were evaluated using high resolution computed tomography (HRCT), and the HRCT scores obtained using the Bhalla scoring system were correlated with those obtained using clinical and laboratory indicators. METHODS: Medical records of 28 children with CF who underwent chest CT in Department of Pediatric Allergy and Immunology, Cukurova University Balcali Hospital between March 2011 and January 2016 were retrospectively reviewed. Demographic data and physical examination, respiratory cultures, pulmonary function tests, and chest HRCT findings were evaluated. Patients were divided into the following two groups according to their forced expiratory volume in the first second (FEV1) values: normal FEV1 (≥ 80% of predicted values) and low FEV1 (< 80% of predicted values). Deep throat or sputum cultures were evaluated for the presence of Pseudomonas aeruginosa (PsA) and other bacteria. HRCT scans were scored using the Bhalla scoring system. RESULTS: No significant correlation was found between the Bhalla scores and sex, age group, or height percentiles. Significant relationships were found between the Bhalla score and weight (p = 0.036) and body mass index (BMI) (p = 0.032) percentiles below the third percentile, bacterial growth in the sputum/ deep throat cultures (p = 0.009), and presence of PsA (p = 0.004). Moreover, a significant correlation was found between the Bhalla score and FEV1 (r = -0.315, p = 0.0272), forced vital capacity (FVC; r = -0.381, p = 0.0178), forced expiratory flow between 25% and 75% of FVC (r = -0.229, p = 0.0431), and BMI (r = -3.368, p = 0.050). CONCLUSION: Chest HRCT is an important diagnostic tool for the pulmonary evaluation of children with CF.

Two newborn babies with generalized arterial calcification of infancy, two new mutations.

Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life.

Severe abdominal trauma involving bicycle handlebars in children.

OBJECTIVES: To emphasize the severity of the underlying injury which may not be realized during the initial patient admission to the emergency department. METHODS: A retrospective case note review of children admitted to our institution with the severe abdominal injury. RESULTS: Eight children were identified with the severe abdominal injury secondary to the trauma from a bicycle handlebar that needed special care in the intensive care unit. All injuries were due to blunt trauma. The mean delay from the time of the accident to the time of presentation was 34.5 hours. All patients had an imprint of the handlebar edge on the hypochondrium. There were 3 pancreatic lacerations, 1 duodenal laceration, 1 jejunal laceration, 1 liver laceration, 1 abdominoinguinal laceration that all required open surgery, and 1 duodenal hematoma that resolved in 4 weeks follow-up period. The patients who required open surgery were evaluated with computed tomographic scans before surgery. CONCLUSIONS: Children with an imprint made by the handlebar edge on the abdominal wall or give a clear history of injuries by a bicycle handlebar should be treated with great care. Early computed tomography evaluation may help to reduce the morbidity resulting from the delay in diagnosis of injuries to the internal organs.

Pediatric invasive mucormycosis cured with high dose liposomal amphotericin B.

Amphotericin B remains the mainstay medical treatment of pulmonary mucormycosis. Optimal dose is not defined. We described a case of pulmonary mucormycosis, which had been treated with 42.55 g (during to 45 weeks) liposomal amphotericin B. In medical literature this case is one of the highest doses of lyposomal amphotericin B administered to a pediatric patient.

Portal venous diameter in children: normal limits according to age, weight and height.

PURPOSE: To establish the normal limits of portal vein diameter according to age, height and weight. MATERIALS AND METHODS: One hundred and sixty-eight healthy children, ages ranging from 1 month to 15 years were examined by ultrasound. Portal vein diameters at hepatic port, weight and height were recorded. RESULTS: A range of normal limits for portal veneous diameter according to age, weight and height are obtained and presented in tables. CONCLUSION: Knowing the normals for portal venous diameter in every age group in children is mandatory in differentiating disease. The tables according to age, weight and height will definitely be helpful in the work-up process.

The effect of retroperitoneal fat tissue thickness on testicular venous drainage.

INTRODUCTION: We evaluated a possible effect of the amount of retroperitoneal fat tissue on testicular venous drainage to shed light on the mechanism of varicocele occurrence. PATIENTS AND METHODS: A total of 132 patients with no fertility complaints were included in this study. Retroperitoneal fat thickness (RPFT) was measured during abdominal computed tomography examinations. According to the calculated body mass index (BMI), patients were categorized as normal, overweight or obese using National Institutes of Health criteria. Relationships were sought between RPFT, BMI and testicular vein-pampiniform plexus diameters measured with ultrasonography on both sides. RESULTS: Left and right testicular vein maximum diameters were significantly larger in obese patients compared with normal and overweight men (p = 0.01 and p = 0.003, respectively). In accordance with this, the left and right pampiniform plexus diameters were larger in the obese group than in the normal and overweight groups (p = 0.004 and p = 0.006, respectively). There was a moderate but significant correlation between the right testicular vein maximum diameter and mean RPFT (p = 0.003). The relationship between bilateral pampiniform plexus diameters and retroperitoneal fat distribution was stronger and significant (p = 0.0001). Correlation analysis revealed a significant relationship between BMI and retroperitoneal fat distribution (R = 0.53, p = 0.0001). CONCLUSIONS: The amount of retroperitoneal fat, which is related to BMI, could be a contributing factor in the etiology of right varicocele.

Ultrasonographic measurement of subarachnoid space in normal term newborns.

This study was conducted in order to assess the normal range of subarachnoid space width in healthy term newborns. A total of 230 healthy newborns were evaluated within the first 28 days of life. Measurements were correlated with body weight, height and head circumference. Mean measurements for falx-cortex and craniocortical widths and the correlations are given in tables. Subarachnoid space widths increased as weight, height and head circumference increased and the correlation was statistically significant.

Risk of developing fibroadenoma with the use of cyclosporine A in renal transplant recipients.

To investigate the effect of cyclosporine A (Cyc A) on the development of fibroadenomas, 30 renal transplant patients and 20 chronic renal failure patients on dialysis were breast examined with ultrasonography and/or mammography. Of the renal transplant patients, 17 were receiving Cyc A-based combination therapy for immunosuppression. All patients were female with the age range of 29.7+/-9.2 years in the transplant group and 33.95+/-9.91 in the dialysis group. Eight of the 17 patients receiving Cyc A had fibroadenomas, 5 of them having bilateral lesions. None of the other patients, those on dialysis and on non-Cyc A combination therapy had fibroadenomas. A significant difference for fibroadenoma incidence in patients receiving Cyc A combination immunosuppression was found.

The prevalence and variations of inferior right hepatic veins on contrast-enhanced helical CT scanning.

PURPOSE: To present the prevalence and variations of inferior right hepatic veins (IRHVs) on contrast-enhanced helical computed tomography (CEHCT) scans. MATERIALS AND METHODS: The routine abdominal CEHCT scans of 349 patients were reviewed. Three hundred and eight patients (88.2%) were included in the study. Of the 349 patients, 41 (11.8%) were excluded from the study because of improper opacification of hepatic veins and right hepatic lobe lesions which made difficult the optimal visualization and assessment of IRHVs. The mean age of 308 patients was 43 years (range 3-97 years). One hundred and forty-three patients (46.4%) were men and 165 (53.6%) women. Scans were examined whether the IRHVs were demonstrated or not and classified according to their numbers, levels, diameters, and joinings to inferior vena cava (IVC). RESULTS: Of the 308 patients, 65 (21.1%) had one or two IRHVs. Fifty-four patients (83.1%) had only one IRHV and 11 (16.9%) patients had two. More than two IRHVs were not seen in any patient. Eight (72.7%) of 11 double IRHVs joined the IVC at the same level and others (27.3%) did not. There was no truncal opening to the IVC. In five patients (7.7%) the IRHV were large (> or =0.5 cm). CONCLUSION: The presence of IRHVs is common and routine CEHCT scanning is efficacious in assessment of IRHVs.

Fucosidosis with hypothyroidism: a case report.

Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. His X-ray findings were consistent with mild form of dysostosis multiplex. Based on clinical and laboratory features, fucosidosis was suspected. Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in Turkey.

Comparison of direct radionuclide cystography and voiding direct cystography in the detection of vesicoureteral reflux.

PURPOSE: The aim of this study is to compare the results of direct radionuclide cystography (DRNC) and voiding cystourethrography (VCUG) in a group of children with a high suspicion of vesicoureteral reflux (VUR). METHODS: For this purpose, 25 children were studied with both VCUG and DRNC. Among 50 ureter units able to be compared 39 ureter units did not show any VUR on either study. Eleven ureter units (10 children) had VUR either on one study or on both (VCUG and DRNC). In the children who had VUR on either study, a dimercaptosuccinic acid scintigraphy (DMSA) was performed to determine their cortical function. RESULTS: We identified the following four patterns: 1) Five ureter units (five children) read positive on DRNC who were negative on VCUG and four of these children had positive findings on DMSA; 2) Four ureter units (four children) read positive on VCUG who were negative on DRNC, and two of them had positive findings on DMSA; 3) Two ureters (one child) read positive in both studies and also had abnormal DMSA findings; 4) Thirty-nine ureter units read as negative on both studies. CONCLUSION: Although the results of these two methods did not show a significant difference, DRNC offers a high sensitivity in the younger age group whereas VCUG seems to be more sensitive in the older age group. DRNC also offers continuous recording during the study, ease of assessment and lower radiation dose to the gonads, which makes it a preferable method for the initial diagnosis and follow-up of VUR.

Intraventricular streptokinase for the treatment of posthaemorrhagic hydrocephalus of preterm.

Posthaemorrhagic hydrocephalus following intraventricular haemorrhage is still one of the most serious complications of premature birth. Small premature babies are not suitable for shunt surgery because of high cerebrospinal fluid protein and risk of obstruction. For this reason there is a great need for alternative approaches for treatment of posthaemorrhagic hydrocephalus. The objective of this study was to investigate if intraventricular streptokinase treatment reduces the need for ventriculoperitoneal shunt in posthaemorrhagic hydrocephalus. A case-control trial was carried out in 12 premature babies with posthaemorrhagic hydrocephalus. Six of them were treated with intraventricular streptokinase and 6 premature babies were in the control group. While 5 babies in the study group needed ventriculoperitoneal shunt, 3 of the control patients needed shunt surgery. There were no rebleeding, ventriculitis or meningitis in either groups. In conclusion on the basis of our results we do not recommend routine use of intraventricular streptokinase in posthaemorrhagic hydrocephalus.