A 14-year-old female patient presented with symptoms of chronic mid and low back pain that radiated to both lower limbs for 5 months, with rapidly progressive lower limb weakness and urine retention. Radiologic evaluation revealed an intramedullary mass at the level of first to sixth thoracic vertebrae. The patient underwent surgery and intraoperative findings showed an intramedullary mass lesion composed of well-differentiated fat tissue. A postoperative histopathologic examination revealed mature adipose tissues consistent with lipoma. Post-operatively patient showed improvement in lower limb motor power and started an extensive rehabilitation program.Prohormone convertase 1/3, encoded by the proprotein convertase subtilisin/kexin type 1 gene, is essential for processing prohormones; therefore, its deficiency is characterized by a deficiency of variable levels in all hormone systems. Although a case of postprandial hypoglycemia has been previously reported in the literature, prohormone convertase insufficiency with type 2 diabetes mellitus has not yet been reported. Our case, a 14-year-old girl, was referred due to excess weight gain. She was diagnosed as having type 2 diabetes mellitus based on laboratory test results. Prohormone convertase deficiency was considered due to the history of resistant diarrhea during the infancy period and her rapid weight gain. Proinsulin level was measured as >700 pmol/L(3.60-22) during diagnosis. In genetic analysis, a c.685G> T(p.V229F) homozygous mutation in the PCSK1 gene was detected and this has not been reported in relation to this disorder. In conclusion, patients with recurrent resistant diarrhea during infancy followed by rapid weight gain need to be evaluated with the diagnosis of prohormone convertase deficiency.Molybdenum cofactor deficiency is a rare neurometabolic disease that is usually characterized by seizures, abnormal muscle tonus, developmental delay and poor nutrition, and is seen soon after birth. Pyloric stenosis causes serious vomiting in the first months of life. The presence of neurologic damage in molybdenum cofactor deficiency and possible abnormal innervations may cause pyloric stenosis; however, the pathogenesis is unclear. Pyloric stenosis with molybdenum cofactor deficiency has been described in two cases. Herein, we report the third case and suggest that hypertrophic pyloric stenosis should be kept in mind as a clinical manifestation of molybdenum cofactor deficiency.Three infants aged between 38 days and 43 days all presented with poor weight gain, hyponatremia, hyperkalemia, and were diagnosed as having urinary tract infections, which were accompanied by urinary tract malformations in our cases. Hydration and infection treatments were given. A few days after admission, hormonal studies revealed normal cortisol and 17-hydroxy progesterone levels and markedly high aldosterone levels, thus the patients were diagnosed as having transient pseudohypoaldosteronism. After the proper treatment was given, the transient pseudohypoaldosteronism resolved. In conclusion, when an infant with urinary tract infection or malformation has electrolyte abnormalities, pediatricians should consider the diagnosis of transient pseudohypoaldosteronism.Benign recurrent intrahepatic cholestasis is a rare disorder characterized by recurrent episodes of cholestatic jaundice without liver damage. A mutation in the ABCB11 gene encoding bile salt export pump protein causes the disease. A 16-year-old boy with severe jaundice is presented here. His laboratory tests were consistent with intrahepatic cholestasis despite having normal gamma-glutamyl transpeptidase levels. Acute and chronic liver diseases with viral, metabolic, and autoimmune etiology were excluded. Magnetic resonance imaging revealed normal intra- and extrahepatic bile ducts. A liver biopsy showed cholestasis in the centrilobular and intermediate zones and sinusoidal dilatation. Genetic testing revealed a homozygous c.3083_3084delCAinsTG (Ala1028Val) mutation in the ABCB11 gene. The patient was treated with ursodeoxycholic acid 20 mg/kg/day and cholestyramine 4 g twice daily, and total bilirubin decreased to normal ranges after two months of therapy. This mutation (c.3083_3084delCAinsTG) in the ABCB11 gene is the first reported in a patient with benign recurrent intrahepatic cholestasis type 2.Mutations in protein O-mannosyltransferase 2 can cause a wide spectrum of clinical phenotypes from severe congenital muscular dystrophy such as Walker-Warburg syndrome to milder limb-girdle muscular dystrophy 2N. We aimed to describe the clinical and paraclinical features, laboratory tests, and molecular findings of four siblings with a homozygous mutation in the protein O-mannosyltransferase 2 gene. There were two sisters and two brothers, aged 4 to 17 years, with an age of onset symptoms at 3 to 12 years. Bcl-2 inhibitor The main neurologic findings were mild intellectual disability, hypoactive deep tendon reflexes, symmetrical weakness of the proximal lower and/or upper limbs, and difficulties in walking on heels and/or toes. The scoliosis found in two siblings has not been associated with protein O-mannosyltransferase 2 gene mutations related to limb-girdle muscular dystrophy 2N in previous reports. This report expands the phenotypic spectrum of protein O-mannosyltransferase 2 gene mutation-related limb-girdle muscular dystrophy 2N.

Enuresis is a major problem affecting both the child and his family. This study aimed to investigate the effect of enuresis on mother acceptance-rejection perceived by children.

Fourty-six children and their mothers with the diagnosis of primary enuresis were included in the study. Parental Acceptance-Rejection Scale which consisted of 60 questions and consisted of four subscales affection, hostility, neglect, and undifferentiated rejection was applied to both mothers and children. A dependent Sample t-test was used to compare the scale results of mothers and children, and an independent sample t-test was used to determine the factors affecting perceived high mother hostility in children.

The mean age was 10.12±1.34 years and 58.70% of the children were boys. There was no statistically significant difference between total acceptance-rejection, affection, neglect, and undifferentiated rejection scores of mothers and children’s perceptions. The perceived hostility score of the children (25.71±8.05) was higher than the mothers’ hostility score (22.