Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants-Case Report.

Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are prone to severe and life-threatening episodes of liver failure. This report illustrates the case of a 2-month-old infant with extreme hyperglycemia and severe diabetic ketoacidosis. Acute management was focused on correcting severe acidosis. Further management aimed to obtain stable blood glucose levels, balancing the patient's need for comfort and lack of distress with the clinicians' need for adequate information regarding the patient's glycemic control. Genetic testing of the patient and his parents confirmed the diagnosis. The follow-up for 18 months after diagnosis is detailed, illustrating both the therapeutic success of subcutaneous insulin therapy and the ongoing complications that patients with Wolcott-Rallison syndrome are subject to.

Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review.

Middle aortic syndrome (MAS) is a rare vascular disease representing an important cause of severe hypertension in children. MAS is characterized by segmental or diffuse narrowing of the abdominal and/or distal descending aorta with involvement of the renal and visceral branches. Most cases of MAS are idiopathic, but MAS may occur in genetic and acquired disorders. The most common genetic causes of MAS are neurofibromatosis type I, Williams syndrome, Alagille syndrome, tuberous sclerosis and mucopolysaccharidosis. This review article discusses the pathophysiological aspects, distinctive associated features, and management of genetic forms of MAS in children.

Frontonasal glioma - diagnostic difficulties.

Nasal glioma or nasal glial heterotopia represents a rare rare benign tumor of the median line. Prenatal and even postnatal imagingc diagnosis of congenital frontonasal masses is difficult. We describe the case of an infant presenting with a lateral nasal mass. The characteristics of the prenatal magnetic resonance imaging and the postnatal clinical examination argued in favor of a congenital hemangioma. The non-regressive aspect of hemangioma under Propranolol therapy pleaded for a possible non-involuting congenital hemangioma. To rule out other diagnosis we performed a postnatal magnetic resonance imaging that indicated a tissue lesion and ruled out an encephalocele. Surgical treatment was performed. The histologic examination revealed glial tissue and connective tissue, with immunohistochemistry confirming nasal glial heterotopia. Nasal glioma can be misdiagnosed as hemangioma. Magnetic resonance imaging and pathology with immunohistochemistry are the mainstay of diagnosis.

Extrahepatic Portal Vein Thrombosis, an Important Cause of Portal Hypertension in Children.

One of the most important causes of portal hypertension among children is extrahepatic portal vein thrombosis (EHPVT). The most common risk factors for EHPVT are neonatal umbilical vein catheterization, transfusions, bacterial infections, dehydration, and thrombophilia. Our study aimed to describe the clinical manifestations, treatment, evolution, and risk factors of children with EHPVT. METHODS: We analyzed retrospectively all children admitted and followed in our hospital with EHPVT between January 2011-December 2020. The diagnosis was made by ultrasound or contrast magnetic resonance imaging. We evaluated the onset symptoms, complications, therapeutic methods, and risk factors. RESULTS: A total of 63 children, mean age 5.14 ± 4.90 (33 boys, 52.38%), were evaluated for EHPVT during the study period. The first symptoms were upper gastrointestinal bleeding (31 children, 49.21%) and splenomegaly (22 children, 34.92%). Thrombocytopenia was present in 44 children (69.84%). The most frequent risk factors were umbilical vein catheterization (46 children, 73.02%) and bacterial infections during the neonatal period (30 children, 47.62%). Protein C, protein S, antithrombin III levels were decreased in 44 of the 48 patients tested. In 42 of these cases, mutations for thrombophilia were tested, and 37 were positive. Upper digestive endoscopy was performed in all cases, revealing esophageal varices in 56 children (88.89%). All children with gastrointestinal bleeding received an octreotide infusion. In 26 children (41.27%), variceal ligation was performed, and in 5 children (7.94%), sclerotherapy. Porto-systemic shunt was performed in 11 children (17.46%), and Meso-Rex shunt was done in 4 children (6.35%). The evolution was favorable in 62 cases (98.41%). Only one child died secondary to severe sepsis. CONCLUSIONS: EHPVT is frequently diagnosed in the last period in our region due to the increased use of umbilical vein catheterization. Furthermore, genetic predisposition, neonatal bacterial infections, and prematurity certainly play an important role in this condition. A proactive ultrasound assessment of children with risk factors for EHPVT should be encouraged for early diagnosis and treatment.

Rectum sizes: Assessment by ultrasonography in children with functional constipation.

AIM: This study aimed to compare the transverse diameter and thickness of the anterior wall of the rectum in children with normal bowel movement and children with functional constipation in different age groups. Another objective was to find correlations of rectum sizes with faecal incontinence and constipation duration. METHODS: In the study, we included children with normal bowel movement and functional constipation diagnosed based on the Rome III and Rome IV criteria. We collected clinical data from the parents. We measured the rectum transverse diameter and the thickness of the anterior wall by abdominal ultrasound. RESULTS: The study included 65 children, 31 with normal bowel movement and 34 with functional constipation. The rectum transverse diameter and the thickness of the anterior wall had statistically significant higher values in patients with constipation (P < 0.05). There was a moderate and significant correlation between the duration of the disease (mean ± standard deviation = 31.7 ± 33.1 months) and rectum transverse diameter (r = 0.54; P = 0.0009). The rectum transverse diameter correlated moderately with the presence of faecal incontinence (r = 0.62; P = 0.003), but the thickness of the anterior wall did not correlate with this symptom (r = 0.02; P = 0.39). CONCLUSIONS: We found statistically significant differences between the transverse rectal diameter and thickness of the rectum anterior wall, measured by abdominal ultrasound, in children with functional constipation compared with normal defaecation patterns. Faecal incontinence and long-term constipation were correlated with the increased rectum diameter.

Changes in the parameters of the rectoanal inhibitory reflex in children with functional constipation and large rectum.

BACKGROUND: Abdominal ultrasound and anorectal manometry are part of the investigations used to assess children with functional constipation. This study aimed at assessing the changes in the characteristics of the rectoanal inhibitory reflex (RAIR) in children with functional constipation and correlating them with the dimensions of the rectum, measured by abdominal ultrasound. A secondary objective was to compare the rectum size in children with and without constipation. METHOD: We retrospectively reviewed the clinical data and investigations results of 51 children (mean age±standard deviation (SD) = 5.8±3.5 years) with functional constipation who came to our clinic between January 2013 and February 2020. The assessment of these patients included both the assessment of the transverse diameter of the rectal ampulla by abdominal ultrasound and anorectal manometry. The studied parameters of RAIR were: the minimal volume of air necessary to induce RAIR, in all the patients with functional constipation, and in 20 of them, relaxation time, latency and relaxation percentage. A control group was formed of 27 children (mean age±SD = 5.1±4 years) without digestive diseases and with normal intestinal transit, who were assessed by abdominal ultrasound. RESULTS: The mean value ±SD of the volume of air necessary to induce RAIR was 21.9±12.1 cm3 air. There was no correlation between the rectum transverse diameter and the minimal air volume that triggered RAIR (r=-0.01, p=0.94). The mean value ±SD of the transverse diameter of the rectum in patients with functional constipation was 39±14 mm, and in children without constipation 26±6 mm (p<0.05). The mean duration of the symptoms in children with functional constipation was 2.8 years. CONCLUSIONS: There were no correlations between the volume of air that induced the RAIR and the transverse diameter of the rectum in children with functional constipation. The transverse diameter of the rectum was increased in children with long-term functional constipation.

The value of abdominal ultrasonography compared to colonoscopy and faecal calprotectin in following up paediatric patients with ulcerative colitis.

AIM: To evaluate the value of abdominal ultrasonography (US) in the follow-up of paediatric patients with ulcerative colitis (UC) compared to faecal calprotectin (FC) and colonoscopy. MATERIAL AND METHOD: In this retrospective study we enrolled 30 paediatric patients previously diagnosed with UC, examined by abdominal US and colonoscopy within the same week. FC was also determined during the same week. Disease activity was established using the paediatric ulcerative colitis activity index (PUCAI). The global endoscopic activity was evaluated using the Mayo endoscopic subscore. RESULTS: Endos-copy revealed pathological findings of active disease in 27 out of 30 patients; 3 patients were in endoscopic remission. Only 18 of them had clinical active disease (PUCAI >10), [sensitivity (Se) 66.7% and specificity (Sp) 33% of PUCAI in detecting endoscopic active disease). Twenty-three (76.7%) patients had FC >250 mcg/g, but in 2 of these cases the colonoscopy was normal (Se 77.8% and Sp 33.3% in detecting active disease). At US examination, pathological findings (increased bowel wall thickness, hypervascularity, lymphadenopathies, and/or mesenteric inflammatory fat) were found in 27 patients (90%), all with endoscopic active disease (agreement US - colonoscopy, at patient level, k=1.0, p<0.001, Se 100% and Sp 100%). At seg-ment level (totally 180 bowel segments examined by US), the overall agreement between US and colonoscopy was k=0.767, p<0.001, Se 86.5%, Sp 90.1%. Of the 27 patients with US pathological findings in any of colonic segments, 23 had FC >250 mcg/g (85.1%). The inter-observer agreement for the US measurements had an overall ICC of 0.926 with p<0.001. CONCLUSION: Abdominal US findings demonstrate a good to excellent concordance with endoscopic examination and are correlated with elevated FC levels. Therefore, US appears as an accurate technique in assessing activity in patients with UC and might replace colonoscopic evaluation for the follow-up.

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.

Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.

Performance of lung ultrasonography for the diagnosis of communityacquired pneumonia in hospitalized children.

AIMS: The objective of the study was to assess the performance of lung ultrasonography (LUS) as compared to chest radiography and the clinical criteria for the diagnosis of pneumonia in children. MATERIALS AND METHODS: This was a retrospective study in which data were collected from medical files of 81 children admitted with a clinical suspicion of pneumonia in which both an LUS and a chest radiograph during the hospitalization were performed. Reference standard used for the diagnosis of pneumonia were chest radiographs (consolidation, parenchymal infiltrates, and interstitial infiltrate) and clinical criteria. LUSfindings were reported as normal, parenchymal consolidations and pleural effusions. RESULTS: Radiological pneumonia was reported in 72 of the 81 patients (88.9%). LUS identified parenchymal consolidations in 62 cases. LUS correctly identified radiological pneumonia with a sensitivity of 79.2% and a specificity of 44.4%. The positive predictive value (PPV) was 91.9% and the negative predictive value (NPV) was 21.0%. When clinical criteria were used as reference standard, the sensitivity, specificity, PPV and NPV of correctly identifying clinical pneumonia cases by LUS (only consolidations) were 80.0%, 66.7%, 96.8% and 21.0%. When indicative for the presence of pneumonia either the ultrasound consolidation or the ultrasound detected pleural effusion were considered when the sensitivity, PPV and NPV increased to 96.0% (95%CI: 88.8-99.2), 97.3% (95%CI: 92.0-99.1), and 57.1% (95%CI: 27.7-82.2), respectively. CONCLUSIONS: In our opinion, our findings together withprevious ones available in the literature recommend LUS as a valuable investigation for the diagnosis of community-acquiredpneumonia in children.

Ultrasonographic findings in hyperimmunoglobulin D syndrome: a case report.

Hyperimmunoglobulin D syndrome due to mevalonate kinase deficiency is a rare autoinflammatory disease with digestive tract involvement. We report an 11-year female child who has presented since the age of 1 year, bouts of fever, rash, joint swelling, pulmonary consolidation, lymph node involvement and hepatosplenomegaly. Hyperimmunglobulin D and increased urinary mevalonic acid were detected. The ultrasonographic features of hepatosplenomegaly ranged from increment in size to pseudotumoral involvement, with hypoechogenic masses without apparent wall. Abdominal CT during a disease flare showed hypodense, hypoenhancing nodular lesions, suggesting metastases. Nevertheless, a thorough search for malignancy was negative and the masses disappeared after the flare. Mevalonate kinase deficiency may add to the causes of hepatosplenic and pulmonary inflammatory pseudotumors.

Celiac disease in toddler with atypical onset. Case report.

Celiac disease is a chronic immune-mediated disorder induced in genetically susceptible individuals after ingestion of gluten proteins. An early diagnosis is of highest importance. Ultrasound might show small-bowel intussusception. We present a toddler with one month history of diarrhea and abdominal ultrasound showing ileo-ileal intussusception. Specific serological markers for celiac disease were positive. The duodenal endoscopy showed normal architecture but pathology indicated fully developed celiac disease (Marsh 3c). In conclusion, toddlers, who have even a short history of diarrhea with ultrasound showing ileo-ileal intussusception, can be suspected of celiac disease by positive serologic markers and can be confirmed by duodenal biopsy and pathology.

Bowel elastography - a pilot study for developing an elastographic scoring system to evaluate disease activity in pediatric Crohn's disease.

UNLABELLED: The diagnosis and monitoring of Crohn's disease (CD) represents a diagnosis challenge in which imaging plays an important role. AIM: In the present paper we aim to demonstrate the role of sonoelastography (SE), performed in addition to hydrosonography (HS), in the evaluation of CD in children and to propose a scoring system for the appreciation of disease activity. MATERIAL AND METHOD: All the patients included into the study were diagnosed with CD and had underwent HS and SE as part of the imaging evaluation. In selected cases magnetic resonance enterography (MRE) was also performed. SE aspects were classified into three types, each corresponding to a specific bowel wall pattern: normal or remission (type A), inflammation (type B) and fibrosis (type C); this classification represents the basis of the scoring system. For the purpose of statistical analysis each evaluated bowel segment became an individual case. RESULTS: Forty eight bowel segments were evaluated by SE: 21 type A, 20 type B and 7 type C. Statistically significant correlations were found between the intestinal wall HS changes, presence of complications, activity markers and the SE score. The HS assessment of the periintestinal area correlated only partially with SE score, while certain SE scores also proved to be predictors for the presence of complications or for increased values of the disease activity markers. CONCLUSIONS: SE, along with HS, represents a reliable investigation in the correct diagnosis and monitoring of pediatric patients with CD and the SE scoring system may be introduced as a method for the assessment of disease activity.

Ovarian and uterine ultrasonography in pediatric patients. Pictorial essay.

Ultrasonography represents the method of choice in the investigation of the female pediatric pelvis. While the investigation itself poses no real challenges, an accurate interpretation of the images must take into consideration the specific features of the ovaries and uterus at certain ages. The present essay aims to demonstrate the normal appearance of the female pelvis and the changes that occur during the various stages of development as well as the some of the most common pathological conditions.

Large spectrum of complete urinary collecting system duplication exemplified by cases. Pictorial essay.

Urinary collecting system duplication is a congenital anomaly and can associate various types of urinary tract pathologies. Authors will illustrate by cases some of associated anomalies such as ureterocele, extravesical ectopic ureter, vesicoureteral reflux or reflux nephropathy; one case presented an association between posterior urethral valve and bilateral collecting system duplication.

Clinical, imaging and cystometric findings of voiding dysfunction in children.

UNLABELLED: The AIM of the study was to validate some of the imaging criteria for voiding dysfunction in children. MATERIAL AND METHODS: The study included a number of 55 children with voiding dysfunction symptoms. They were investigated clinically as well as through imaging techniques: renourinary ultrasound, voiding cystourethrography and cystometry. RESULTS: The most common symptoms were urgency (87.3%), increased frequency (81.8%), and daytime urinary incontinence (76.3%). Ultrasound scans detected a reduced bladder capacity in 65.5% patients. The voiding cystourethrography detected bladder trabeculations (58.2%) and spinning top urethra (63.6%). Cystometric recordings indicated overactive bladder in 70.9% patients. Reduced bladder capacity detected by ultrasound associated with trabeculated bladder and spinning top urethra detected by voiding cystourethrography in a patient with specific symptoms may suggest an overactive bladder. In CONCLUSION, voiding dysfunction in child can be diagnosed by minimal or non-invasive methods.

Myositis ossificans traumatica of the neck - a pediatric case.

Myositis ossificans circumscripta (MOC) is an extra-osseous non- neoplastic growth of a new bone. It occurs most commonly in the second and the third decade of life, while it is rare in children. The etiology of MOC is unknown and the quadriceps and brachials are the most affected. The occurrence of traumatic MOC in tissues of the neck is uncommon. We are presenting below a rare case of traumatic myositis ossificans occurring in sternocleidomastoid and trapezius muscles in a 17-year-old girl.

The role of ultrasonography for diagnosis the renal masses in children. Pictorial essay.

In children abdominal masses usually arises from the kidney and urinary tract. The reasons for patient's presentation may be abdominal pain, palpable abdominal mass (usually discovered during the physical exam) and hematuria. Ultrasonography should be the first imaging investigation performed in children with an abdominal mass. It can be performed safely regardless of the clinical status of the patient, it is noninvasive and painless, requires no radiological contrast media and it is a relatively inexpensive. Ultrasonography is usually able to give an accurate localization of the lesion to a specific area or organ of the abdomen and provides good differentiation of solid from fluid or blood-filled masses. The purpose of this pictorial essay is to demonstrate the ultrasonographic features of the most frequently encountered reno-urinary masses in children.