Aim: Familial Mediterranian Fever is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 158 children (78 male, 80 female) diagnosed with Familial Mediterranean Fever (FMF) and to compare the phenotype-genotype correlation. Methods: In our retrospective case-control study, 158 FMF patients (78 males, 80 females) who were diagnosed with MEFV gene mutation in Bursa Yuksek Ihtisas Training and Research Hospital, Department of Pediatrics between January 2018 and June 2019 were included in the study.  Mutation screening of the MEFV gene was performed for 12 mutations and the 8 most common mutations were taken into the study. Results: Abdominal pain (77.8%), fever (74%) and arthralgia (46.2%) were the most prevalent clinical features in our patients. The most frequent mutations were M694V, E148Q, V726A, M680I and P369S. In cases with M694 mutation, it was noted that the incidence of arthritis was 2.5 times, appendectomy frequency 3.1 times higher, and early diagnosis probability 3.2 times higher. The frequency of chest pain was 2.9 times higher in the M680I mutation, and the frequency of arthralgia was 2.2 times higher in the P369S mutation. Conclusion: Patient’s mutations in FMF patients are important for clinical expectations, and some mutations such as P369S are not as innocent as expected. However, reevaluation of phenotypes of mutations that are rare with more patients will be significant.

Background Moebius syndrome is a rare congenital disorder characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular movements. Poland syndrome is an occasional disease defined as the unilateral absence of pectoralis major muscle and ipsilateral syndactyly. As to, Poland–Moebius syndrome is a rare condition which consists of assembly components of Poland and Moebius syndromes. Patients and Methods Patient 1 is a 12-year-old male patient referred for evaluation of difficulties in eye movements to the hospital. On admission, facial, abducens, trochlear, and oculomotor cranial nerves involvement was determined in the neurological examination. His right pectoralis major muscle was hypoplastic in the examination. Patient 2 is a 4-month-old female patient who was admitted with restricted eye movements, weakness of crying, and difficulty in swallowing. Neurological examination indicated facial, abducens, trochlear, oculomotor, glossopharyngeal, and vagus cranial nerves involvement. Her physical examination demonstrated hypoplastic left pectoralis major muscle and hypoplastic left hand. Results The biochemical laboratory studies, creatinine kinase levels, and tests for inborn error of metabolism of both patients were normal. Chest X-ray studies revealed the lack of muscle tissue development in the left pectoral region. Cranial magnetic resonance imaging, echocardiography, and abdominal ultrasound were also normal. Conclusion This report highlights two cases of Poland–Moebius syndrome in two patients of varying age and clinical presentations, with a comprehensive review from the perspective of pediatric neurology.

OBJECTIVE Vitamin D deficiency is common in children. The effects of Vitamin D on bone health are well-known. However, its effect on glucose and lipid metabolism in obese children remains controversial. This study projected to evaluate the association between Vitamin D level and glucose, lipid, and bone metabolism parameters in obese children. In addition, the objective of the study was to determine the change in insulin resistance after Vitamin D replacement therapy in obese children with Vitamin D deficiency. METHODS Hundred fifty children with obesity were included in our retrospective cross-sectional study. The patients were separated into two groups as the study group (serum 25(OH)D level <20 ng/ml) and the control group (serum 25(OH)D level ≥20 ng/ml). Physical examination, body fat mass, and laboratory findings of the two groups were compared. Moreover, patients in the study group were supplemented with Vitamin D 2000 IU/d for 24 weeks. Glucose, insulin levels were analyzed before and after treatment. RESULTS Body fat mass and percentage were evaluated as more raised in the study group than those in the control group. The study group had a higher level of insulin resistance. There was a significant loss in body weight of patients after treatment in the study group and insulin resistance of the study group decreased after Vitamin D3 treatment. CONCLUSION Considering the low side effects and affordability of Vitamin D, it would be a reasonable approach to identify serum Vitamin D levels in obese children and to administer a treatment to those with Vitamin D deficiency.