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Objectives Hypochondroplasia (HCH) is characterized by disproportionate short stature and regarded as a milder form of achondroplasia (ACH), which is another skeletal dysplasia, both caused by variants in fibroblast growth factor receptor 3 (FGFR3) gene. HCH diagnosis is based on the clinical features and skeletal survey findings. The most common FGFR3 variant in HCH affects the codon 540, leading to substitution of asparagine with lysine in about 70% of patients. Case presentation Herein, we described the clinical and radiographical manifestations of HCH in affected members of a Turkish family with very rare Asn540Thr (c.1619A>C) variant within hot spot of the gene for this condition. Conclusions This is a very rarely reported variant in the literature and this report is the first case with this variant in Turkish population. The report also presents the phenotypic variability within a family with the same variant, which is inherent to HCH.

Objective Multisystemic inflammatory syndrome in children (MIS-C) is characterized by persistent fever, systemic hyperinflammation, and multiple-organ dysfunction. There are a few reports about MIS-C presenting with acute abdomen. The aim of this study was to demonstrate the clinical characteristics and treatment options for MIS-C-related acute abdomen and appendicitis. Methods This was a retrospective study conducted between April 2020 and October 2020 in our pediatric intensive care unit in Turkey. Patients between the ages of 1 month and 18 years who presented with acute abdomen and were ultimately diagnosed with MIS-C were included. Results Seven patients with a median age of 12.5 (interquartile range 10.5–13) years were enrolled. Four were females. The most frequent symptoms were fever, abdominal pain, and vomiting. Three patients had involvement of the appendix that required surgical intervention. All pathology reports were compatible with appendicitis. The other patients also had an acute abdomen. One patient had malignant hyperthermia during induction of anesthesia, so surgery was postponed and medical management was commenced. The clinical picture regressed with immunomodulation. All patients were treated with intravenous immunoglobulin and steroids. Four patients with acute abdomens improved with immunomodulation, and surgery was not needed. Conclusion MIS-C may present with an acute abdomen. Immunomodulation should be considered instead of surgery if the clinical course is not complicated.

Traumatic optic neuropathy (TON) is characterized by impaired visual function due to acute damage to the optic nerve injury related to the trauma. The predictive incidence of TON in children and adolescence is 0.7-2.5% after blunt or penetrating head injuries. Orbital trauma is often accompanied by head injury and is the most common cause of unilateral vision loss. Here, we present a case of 11-year-old child who had the complaint of vision loss in the right eye and developed TON after a motor vehicle accident. The intubated patient was admitted to the pediatric intensive care unit after trauma and was operated due to epidural hemorrhage. Visual loss was detected during follow-up and orbital computed tomography revealed multiple fractures in the orbital walls and magnetic resonance imaging showed effusion of the optic nerve sheath and contrast enhancement of the optic nerve. Clinical and imaging findings suggested TON and as there was no indication for surgery, pulse steroid treatment was given for 5 days. With this treatment, the patient's vision loss and clinical findings improved significantly.In conclusion, TON should be considered in patients with a head injury and post-traumatic vision loss. High-dose steroids should be considered in suitable patients.

PURPOSE: We aimed to assess the diagnostic performance of transluminal attenuation difference (TAD) in predicting the severity of internal carotid artery (ICA) stenosis. METHODS: The study cohort consisted of 48 patients with 70%) stenosis compared with control arteries and low-moderate stenosis. A TAD ratio cutoff of 4.5 predicted 70%–99% stenosis with a sensitivity of 100% and specificity of 93%. The inter- and intraobserver agreements in TAD measurements were almost perfect (ICC, 0.89–0.86). CONCLUSION: Assessment of TAD ratio predicts the degree of stenosis in concordance with NASCET system.

Diffuse leptomeningeal glioneuronal tumor is characterized by hydrocephalus, leptomeningeal involvement in the absence of a primary parenchymal mass, and negative cerebrospinal fluid (CSF) cytology. It is an extremely rare and difficult tumor to diagnose as no mass can be biopsied and it mimics infectious, rheumatologic, and inflammatory pathologies. An 11-year-old girl presented with complaints of headache, vomiting, and double vision. On examination, there was papilledema. Initial MRI scanning did not yield any significant findings. Clinical progression was observed in four months in the follow-ups. The symptoms included seizures, gait disturbances, and severely increased intracranial pressure. The screening of the patient for infectious, rheumatologic, endocrinologic, and inflammatory pathologies was normal. CSF pressure was elevated without any malignancy. Repeated cranial MRI revealed hydrocephalus and pituitary expansion. Leptomeningeal thickening and contrast enhancement were observed in spinal MRI. After a negative dural biopsy, the patient was diagnosed with a spinal leptomeningeal biopsy. The authors believed that the prevalence of this rare pediatric tumor, diagnosed with a leptomeningeal biopsy, is underestimated as it has an insidious course and signs of increased intracranial pressure in the absence of a definite solid mass.

Subaponeurotic (subgaleal) fluid collection (DSFC) is a rare clinical entity of unknown etiology. We aimed to present our series of infants who were diagnosed with DSCF at Ankara University Children's Hospital. We retrospectively reviewed clinical findings, imaging studies, laboratory tests, management, and clinical courses of infants diagnosed with DSCF between June 2014 and June 2018. Five infants (4 males, 1 female), aged 5-14 weeks, were identified during the study period. All deliveries were non-progressive (3 normal deliveries, 2 cesarean sections) while instrumentation (vacuum extraction or forceps) was used in 2. History of recent trauma, concern for child abuse, and family or personal history of coagulopathy were negative for all patients. Conservative management with the spontaneous resolution was observed in 2 to 12 weeks in all infants. Although rare, DSFC should always be kept in mind in the differential diagnosis of scalp swelling in young infants. The diagnosis is primarily clinical, and current treatment is conservative.

Macroenzymes are high molecular weight enzymes which could be in the serum in physiologic or pathologic conditions. The first described and the most frequently seen macroenzyme is macroamylase. Here we present a child with macroamylasemia. A 3-year-old boy was brought to the hospital with fever and cervical swelling. On his examination, multiple number of cervical lymphadenopathies, hepatomegaly and splenomegaly were detected. Acute Ebstein-Barr virus (EBV) infection was considered in the patient who had fever, cervical lymphadenopathies, hepatomegaly, and splenomegaly and atypical lymphocytes on the peripheral smear. On laboratory findings, amylase levels were elevated which was thought to be a secondary complication, like parotitis, secondary to EBV infection. During follow-ups of the patient monitored without any treatment, complaints and all findings regressed, while amylase levels coursed at high levels. Salivary gland ultrasound (US) performed to find the cause of elevated amylase levels, findings which might be secondary to viral infection were seen. On the abdominal USG, pancreas was normal but minimal splenomegaly was detected. Fractional clearance of amylase was determined as

Objectives: To evaluate the efficiency and reliability of MRU in diagnosis and follow up of children with UPJO. Methods: Thedata of64 patients with the diagnosis of primary UPJO were analysed. All patients underwent Anderson-Hynes pyeloplasty and pelvic reduction. Pre- and postoperative results of renal pelvis AP diameter (RPAPD), separated renal function, renal transit time (RTT), and anatomical findings in USG and renal scintigraphywere compared with MRU findings to evaluate the possible differences and analyze the efficiency and reliability of MRU in the management of UPJO. Results: The mean age 7.2 ± 1.8 years. All patients had unilateral hydronephrosis including 16 grade 2, 24 grade 3 and 24 grade 4. Pre- and postoperative RPAPDs in two techniques were also similar (P = 0.084, P = 0.576). Separated renal functions were evaluated by MRU with similar affectivity and sensitivity in DRS (P = 0.867). The comparison of mean pre and postoperative RTT results showed a significant improvement in mean postoperative RTT value (P = 0.024). Conclusions: MRU has the potential to become the imaging study of choice in the diagnosis and follow up of obstructive uropathy, and it may have a more significant role in the management of UPJO in the near future. Keywords: MR urography, ultrasonography, renal scintigraphy, UPJ obstruction, pyeloplasty, children.

BACKGROUND/AIM The aim is to evaluate the long-term outcome of asymptomatic patients who underwent surgical correction for midgut volvulus. MATERIALS AND METHODS Seven patients managed surgically for midgut volvulus in the last 3 years were included. Demographic features, symptoms at presentation, diagnoses, surgical procedures, and complications were recorded. Patients were then contacted for follow-up and evaluation of long-term outcomes. General physical conditions, anthropometric parameters, feeding habits, and defecation histories were evaluated. Laboratory examinations were performed. Color Doppler ultrasonography (CDUS) was performed to evaluate blood flow in the superior mesenteric artery (SMA). RESULTS In total, seven patients were identified. The median age at admission was 3 days (0-90 days). Mean age at follow-up was 17 ± 2 months. Growth parameters were normal in all cases. Four patients had low levels of ferritin and transferrin saturation. One patient had microcytic anemia. Another patient had low serum zinc level. One patient who had ileal resection had a high level of steatorrhea in stool examination. In CDUS, SMA blood flow volume was low in all cases. Peak-systolic velocity and resistance index were low in all but one case. CONCLUSION Despite uneventful postoperative courses, all patients operated on for midgut volvulus showed mild laboratory changes and decreased blood flow in the SMA in long-term follow-up.

Congenital absence of the portal vein (CAPV) is such a rare malformation of the splanchnic venous system. Also it can be a reason for hepatic tumors, for example adenoma, hepatoblastoma or hepatocellular carcinoma (HCC). The cooccurence of CAPV and HCC in adult patients have been reported in the literature. It is the second case of a pediatric patient whom has also CAPV and HCC.