Meltem Bingöl Koloğlu

An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication

Abstract:  Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early diagnosis and hematopoietic stem cell transplantation may reverse the dismal prognosis in PNP deficiency. This report presents a new PNP deficiency case successfully transplanted without a conditioning regimen from an HLA‐identical family donor, who developed a complication of disseminated BCG infection.

Late Presentation of a Traumatic Rupture of the Diaphragm with Gastric Volvulus in a Child: Report of a Case

Rupture of the diaphragm following blunt trauma is rare in children. A late presentation of a left diaphragmatic rupture with gastric volvulus is also highly exceptional. The authors report the case of a 5-year-old boy with a left diaphragmatic rupture, who presented with acute respiratory distress and volvulus of the herniated stomach 6 months after injury. The features of this uncommon entity are discussed with special emphasis on early diagnosis. It is concluded that repeated chest radiographs during hospitalization, as well as some days after discharge, should be obtained in trauma patients to detect a slowly increasing herniation.

Laparoscopy is the Gold Standard in Ovarian Pathologies in Childhood: Clinical Evaluation and Literature Review

OBJECTIVE: Ovarian cysts and related torsions are the most common adnexial pathologies in childhood. Diagnostic laparoscopy is the gold standard approach for differential diagnosis. It is aimed to evaluate the data of patients who had surgery for ovarian pathology. STUDY DESIGN: Fifty-three girls of ten years are included the study. Demographic data, medical history, physical examination, laboratory and radiologic investigations, surgical procedure, histopathology, complications and follow up periods are recorded. RESULTS: The median age of children was 13. Excluding the patients who were diagnosed in intrauterine period (n=4), all of the patients had abdominal pain (92%). Laparoscopic cystectomy (56.7%), detorsion and cystectomy (16.9%) and oopherectomy (16.9%) were performed in patients with cysts. Diagnostic laparoscopy (3,8%) and laparoscopic detorsion (5.7%) were performed in patients without cyst. Dermoid cysts were found in three children and teratomas in two. Patients were discharged in postoperative second day. CONCLUSION: Diagnostic laparoscopy is the gold standard approach for differential diagnosis. Laparoscopic approach should be chosen because of shorter hospital stay, shorter healing period, and better cosmetic results. Besides, less pelvic adhesions compared to laparotomy in laparoscopy is important for further fertility.