Nergul Corduk

A rare presentation of crush injury: transanal small bowel evisceration. Case report and review of the literature.

Evisceration of the small intestine through the anus is an extremely rare event in children. We report a 2-year-old boy who sustained transanal small bowel evisceration associated with bilateral diaphragmatic rupture, left diaphragmatic herniation, and spinal cord injury without radiographic abnormality which happened after crushing by motor vehicle. We reviewed children with transanal small bowel evisceration and discussed etiological differences between children and adult. We also discussed the basic principles of management and follow up in these patients.

Evaluation of lower urinary tract dysfunction in Turkish primary schoolchildren: An epidemiological study

OBJECTIVE The aim was to determine the prevalence of voiding dysfunction and its related risk factors in Turkish schoolchildren. MATERIALS AND METHODS A randomly selected, cross-sectional study was conducted using a self-administered and previously validated questionnaire. The questionnaire consisted of two parts. The first part included personal demographic and familial information, and the second part included the Dysfunctional Voiding and Incontinence Scoring System (DVISS). The questionnaires were given to 4668 children between 6 and 15 years of age, which were completed by the parents and children together. The children with a score of ≥9 were accepted as having lower urinary tract dysfunction (LUTD). RESULTS The data were collected from 4016 children (the response rate was 86.0%), including 48.6% boys and 51.4% girls. The mean age was 10.5±2.2 years. The overall frequency of LUTD was 9.3%. While the 6-year-old children had the highest frequency (23.1%) of LUTD, this rate was 7.9% at the age of 10, and the children aged 14 years had the lowest frequency (4.9%), (p<0.001). Lower urinary tract symptoms were significantly more common in girls (7.6%) than in boys (3.2%) only for the older age group (between 12 and 15 years of age). Compared with normal children, those with LUTD (with a score of ≥9) had the following risk factors: less educated parents, a parent that had lower urinary tract symptoms when he or she was a child, more persons per room (≥2 persons), more siblings (≥4 siblings) at home, past medical history of urinary tract infections, and squatting position (in girls). CONCLUSIONS Lower urinary tract problems are one of the most important and ongoing health problems in childhood. Determining the prevalence of lower urinary tract problems in children and their related risk factors is the first step to managing and reducing the number of children suffering from voiding problems.

Acute acalculous cholecystitis due to hepatitis A infection in a child: A rare cause of acute abdomen

The four cases presented are in agreement with other studies where GUDs in HIV-infected patients were found to be recurrent, chronic, aggressive and sometimes associated with systemic symptoms,[2,3] as was seen in case 3. In view of the principal role of high HIV viral load and immunosuppression in the pathogenesis of these manifestations,[4,5] HAART improves the recovery of GUD and prevents its recurrence, as demonstrated in our cases with genital herpes. In developing countries where sophisticated GUD diagnostic facilities are unavailable, the syndromic approach is simple, rapid and effective in the management of GUD, especially in HIV-infected patients who present atypically.[1]

Knowledge, attitude and behaviour of boys and parents about circumcision

To determine the knowledge, attitude and behaviour of parents and previously circumcised early adolescent boys about circumcision.

Association of rare intestinal malformations: Colonic atresia and intestinal neuronal dysplasia

A single case of colonic atresia (CA) associated with type A intestinal neuronal dysplasia has been reported in the literature. This article describes a newborn with CA associated with diffuse type B intestinal neuronal dysplasia. A 2-day-old fullterm boy presented with marked abdominal distention, milk intolerance, and bilious vomiting. Type III CA was detected at laparotomy, and a mucous fistula colostomy was performed. The colostomy functioned poorly postoperatively, so an ileostomy was performed. Pathology reported that ganglion cells were evident in the specimens, however, the ileostomy did not function adequately. A second laparotomy was performed, and a re-stoma was fashioned. All previous pathology slides were reviewed, and diffuse type B intestinal neuronal dysplasia was detected. The patient died of septicemia at 34 d old. Specimens of patients with CA should be examined carefully so that dysganglionoses can be ruled out.

Calcinosis Cutis in a Newborn with Transient Pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is a heterogenous group of disorders characterized by hypocalcemia with hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biological activity of PTH. Calcinosis cutis, the cutaneous deposition of calcium salts in the dermis, is a rare clinical symptom in infancy. The deposition of calcium in the skin may be classified as dystrophic, metastatic, idiopathic, and iatrogenic. Although a few infants with PHP and calcinosis cutis have been reported, to the authors’ knowledge, the combination of neonatal transient PHP and calcinosis cutis associated with calcium treatment has not been previously reported. The authors report a newborn boy with transient PHP presenting with early hypocalcemia, hyperphosphatemia, increased PTH levels, and calcinosis cutis after intravenous treatment of calcium gluconate.

A further family of Stromme syndrome carrying CENPF mutation

Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and “apple peel” type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3‐month‐old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to “apple peel” intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome‐sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the cause of Stromme syndrome.

Intestinal perforation caused by multiple magnet ingestion.

Multiple magnet ingestion is rare, but can cause serious gastrointestinal complications. We report a case of 7-year-old girl with multiple intestinal perforations caused by multiple magnet ingestion. The aim of this report is to draw attention to magnetic toys, results of magnet ingestion and the importance of timing of operation.