Glucose-6-phosphate dehydrogenase (G6PD) deficiency in girls: a diagnosis not to be missed (a case report).

Glucose-6-phosphate dehydrogenase (G6PD) is a polymorphic enzyme encoded by the X chromosome. It protects the cell against hydrogen peroxide-induced damage and ensures an oxidative balance profile within the cell. The disease is more frequent in males, and rare cases are described in girls. We report an observation of a 7-month-old Moroccan girl hospitalized for acute hemolysis after consuming fava beans. The diagnosis of a G6PD deficiency was retained after an assay of the enzymatic activity that returned collapsed. After initial conditioning, a transfusion of phenotyped retinal ganglion cells (RGCs) is performed. The rapid evolution is favorable, and the child is discharged after therapeutic education sessions for the parents on the products to be avoided. Through this observation, we insist on the importance of neonatal screening in regions with a high prevalence of hemolysis in order to avoid diagnostic delays and also to prioritize the evaluation to be requested in an acute hemolysis state, to propose an education articulated around a preventive approach in children with this disease.

[Rapunzel syndrome in a child with trisomy 21: a case report]. / Syndrome de Rapunzel chez une enfant trisomique 21: à propos d'un cas.

Trichobezoard is a rare condition characterized by a gastric mass composed of hair or fibers due to a compulsive attitude (trichotillomania) and an eating disorder (trichophagia). Gastric trichobezoar is the most common form and may extend into the small bowel, sometimes reaching the last ileal loop, or even the transverse colon, resulting in Rapunzel syndrome. We here report a case of gastroduodenal and small intestine trichoboozoar in a 6-year-old girl with facies of trisomy, presenting with recurrent abdominal pain lasting for one months and suspected gastrointestinal lymphoma. The diagnosis of trichoboozoar was based on surgery. The purpose of this study is to give an overview of the history of this rare condition and to clarify the diagnostic and therapeutic approaches used.

Gut microbiota in preterm infants with gross blood in stools: A prospective, controlled study.

OBJECTIVE: Gross blood in stools is a peculiar entity in preterm infants, but little is known about its etiology. As gut microbiota can be distorted in preterm infants, we aimed to evaluate the gut microbiota in infants with gross blood in stools. STUDY DESIGN: In a prospective, controlled, single-center study, we enrolled all infants born before 34 weeks of gestational age presenting gross blood in stools that was either completely isolated or associated with mild clinical symptoms or radiological signs. Each case was paired with two controls who were hospitalized in the same unit and were matched for gestational age and birth weight. The diversity of the gut microbiota was analyzed using 16S rRNA gene PCR and temporal temperature gel electrophoresis. We calculated a diversity score corresponding to the number of operational taxonomic units present in the microbiota. RESULTS: Thirty-three preterm infants with gross blood in stools were matched with 57 controls. Clinical characteristics were similar in cases and controls. There was no statistically significant difference in the diversity score between the two groups, but microbiota composition differed. The proportion of infants with Escherichia coli was significantly higher in cases than in controls (p=0.045) and the opposite pattern occurred for Staphylococcus sp. (p=0.047). CONCLUSION: Dysbiosis could be a risk factor for gross blood in stools in preterm infants. Additional, larger studies are needed to confirm the implications of the presence of different genotypes of E. coli and to evaluate preventive actions such as the prophylactic use of probiotics and/or prebiotics.

Risk factors of mild rectal bleeding in very low birth weight infants: a case control study.

BACKGROUND: Mild rectal bleeding (MRB) is a particular clinical entity different from necrotizing enterocolitis, which significantly influences neonatal care in preterm infants. We aimed to determine the risk factors and to evaluate prospectively the clinical course of MRB. METHODS: We consecutively included in a case-control study all infants with birth weight ≤ 1500 g or gestational age ≤ 32 weeks admitted to our unit, and presenting MRB, defined as either isolated or associated with mild clinical or radiological signs. We matched each Case with two Controls. Clinical data before, after and at time of MRB were collected, together with stool cultures at time of MRB (or at similar postnatal age in Controls). Multiple logistic regression analysis was performed to determine independent risk factors for the development of MRB. RESULTS: During 4 years, among 823 very low birth weight (VLBW) infants admitted to our unit, 72 (8.8%) had MRB. The median duration of rectal bleeding was 1.1 [1-2] days and the fasting period lasted 2.9 [2-10] days. A relapse occurred in 24% of cases. In multivariate analysis, only hypertension during pregnancy (p = 0.019), growth restriction at onset of bleeding (p = 0.026), and exposure to ibuprofen (p = 0.003) were independent risk factors for MRB. In Cases there were more infants with Clostridium Difficile in stools than in Controls (p = 0.017). CONCLUSION: Hypertension during pregnancy, even without intrauterine growth restriction, appeared to carry the same risk for MRB as exposure to ibuprofen and extrauterine growth restriction.