Urinary tract infection in the neonates: what radiologic investigations should we do?

INTRODUCTION: Urinary tract infection (UTI) is the most common bacterial infection in febrile newborns. The exact prevalence is difficult to determine. AIM: To determine if renal ultrasound is sufficient in newborns diagnosed with urinary tract infection (UTI) or if they require a routine voiding cystourethrogram. METHODS: Retrospective data analysis for infants admitted in the neonatal department in Mongi Slim Hospital in Tunis between January 2007 and December 2016 and diagnosed with UTI in the first month of life. RESULTS: 75 newborns were diagnosed with the first episode of UTI during their hospitalization. The median age was 15 days; there were 52 (70%) males. Fetal ultrasound data were available for 70 patients (90%), of whom 14 (20%) had abnormal findings. E.coli was the most common causative pathogen founding 62 patients (83%). Renal ultrasound was performed in all patients, of which 20 (27%) were reported as abnormal. VCUG results were available for 32 infants (43%), of which 11 (34%) were interpreted as abnormal; Eight of them (73%) demonstrated vesicoureteric reflux (VUR).Comparison of the patients with and without malformative uropathy in our study, concluded that there was no significant difference in age, gender, urine culture specimen and positivity of blood culture. However antenatal ultrasound abnormalities were predictive of vesicoureteric reflux and other renal abnormalities (p = 0.001). The sensitivity of renal ultrasound for detection of vesicoureteric reflux and other renal or ureteral abnormalities was 81.8 %, specificity was 81 %. The positive predictive value (VPP) was 69.2 % and the negative predictive value was 89.5 %. CONCLUSION: In infants presenting with UTI in the first month of life, conservative follow-up with renal ultrasound examination and early detection of recurrent UTI are sufficient.

Prevalence of celiac disease in Tunisia: mass-screening study in schoolchildren.

BACKGROUND: Celiac disease is reported to be common among North Africans, particularly Tunisians. Nevertheless, the prevalence of coeliac disease in the general population has not been previously investigated. OBJECTIVE: This study aimed to determine the prevalence of celiac disease among children in Tunisia and to describe the clinical profile of the screened patients. METHODS: A mass screening study based on drawing lots was carried out on schoolchildren in Ariana, a Tunisian district. A participation agreement was obtained from 6286 children (3175 boys, age: 9.7+/-3 years). Two children of known celiac disease were present in this population. All participants were tested for IgA antitissue transglutaminase antibodies (IgA-tTG) by a commercial enzyme-linked immunosorbent assay (ELISA) and total IgA levels. Sera, found positive by the initial screening, were assessed by immunofluorescence for the presence of IgA antiendomysium antibodies (IgA-AE). Positive participants were also called in for serological control, intestinal biopsy, biological exploration (hemoglobin rate, calcemia and albuminemia) and bone mineral densitometry. RESULTS: Among the 6284 participants, 139 (1/45) were positive for IgA-tTG. Forty-two of these had low-level IgA-tTG and no one had IgA deficiency. IgA-AE was detected in 40 participants. One hundred and seven children were called in, 28 had both positive tests (IgA-tTG +/IgA-AE+) and 79 were only positive for IgA-tTG (IgA-tTG +/IgA-AE-). Intestinal biopsy was performed in the 28 participants of the first group (IgA-tTG +/IgA-AE+) and confirmed celiac disease in 26 cases. In the second group (IgA-tTG +/IgA-AE-), intestinal biopsy was performed in 26 children and histological examination was normal in all cases. Among the 26 biopsy-proven celiac disease children, six (23%) had typical clinical symptoms of celiac disease, whereas the others had atypical forms with 11 (42%) asymptomatic. In 23 biopsy-proven celiac disease children, bone mineral density was significantly lower than that of a group of 109 normal children (0.850+/-0.06 g/cm2 versus 0.912+/-0.06 g/cm2, P<0.05). Seven participants (30.4%) among the celiac disease children and six (7.5%) among the controls had a total-body Z score for bone mineral density of <-2 (P<0.001). CONCLUSION: The prevalence of celiac disease in Tunisian schoolchildren, estimated to be about 1/157, is close to the European prevalence. Most of the screened children showed an atypical and asymptomatic form, but even the typical forms were underdiagnosed. Ostopenia was frequently observed in celiac disease patients.

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia. Laboratory tests revealed direct hyperbilirubinemia. The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation. He was found to have homozygous nonsense mutation c. 2270 C>T (Arg924X) at exon 14 of the INSR gene. He later developed enterocolitis and died at 3 months old. Prenatal diagnosis was performed for the family via chorionic villous biopsy. We try to explain gastrointestinal dysfunction seen in our patient.

Omenn syndrome: two case reports.

Omenn syndrome is a variant of combined severe immunodeficiency due to mutations in RAG genes. It is characterized by polymorph symptoms and lethal outcome. We report on two cases of Omenn syndrome. Infants were aged 50 and 46 days. The clinical and biological signs were typical and complete in the first case. In the second case, only the cutaneous signs were present. Diagnosis was confirmed by genetic study. The Rag1 T631 mutation was found in these two patients. Hematopoietic stem cell transplantation could not be done and the evolution was fatal in both cases because of severe infectious episodes. Prenatal diagnosis was performed in the two families and each family has currently a healthy child. In conclusion, early diagnosis of Omenn syndrome may avoid infectious complications responsible for delay in therapeutic management. Genetic study confirms the diagnosis. The treatment usually consists of hematopoietic stem cell transplantation in association with immunosuppressive drugs. Prenatal diagnosis is very important to allow parents to have healthy children.