Primary immunodeficiencies : Report of 33 Pediatric Tunisian cases.

Background Primary immunodeficiencies (PID) are a group of heterogeneous and relatively rare diseases. Aim to determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients. Methods A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years (1991-2012). Resultats a masculine predominance has been noticed with a sex ratio at 2,3. Consanguinity was found in 71% of family cases. History of early infant deaths was found in 42% of cases. The media age of diagnosis was of 1 year 2 months. The median diagnosis delay was of 11 months and 1/2. Most frenquently observed PID were combined immunodeficiency (36%), mostly severe combined immunodeficiency (SCID) (21%), followed by congenial defects of phagocyte function (33%), mostly chronic granulomatosis disease (21%). Antibody defects were found in 21% of cases. Most frequently observed out comes were lung infections (66%) recurrent oral thrush (57%) and diarrhea (42%). Most important complications were severe infections and bronchiectasis. 30% of patients were dead by the end of the study. A molecular characterization was performed in 33% of patients, and an antenatal diagnosis was performed in 10% of cases. Conclusion The PID are a group of disease with variable expressions and etiologies. Their frequency remains understimated in Tunisia, and their management, difficult and insufficient. We suggest the establishment of systematic genetic consulting visit, the creation of a national registry and developing bone marrow transplantation in children in Tunisia.

Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients.

Progressive familial intrahepatic is a heterogeneous group of rare autosomal recessive liver disorders. Neonatal onset is characteristic of the PFIC 1 and PFIC 2, which result from mutations in genes respectivelyATP8B1 and ABCB11. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described. They all had typical clinical and biological features. However, they all had newly reported mutations. The same mutation was found in the patients with PFIC2, which could facilitate the diagnosis in Tunisian patients suspected in the future. The patient diagnosed with PFIC1 had also a newly described mutation, with a probable phenotypic particularity that is congenital hypothyroidism. Advances are being made to establish a molecular diagnosis in neonatal onset cholestasis. Indeed, next generation sequencing gene panels (NGSGP) potentially decrease the need for invasive procedures in these patients, enable early initiation of treatment and adequate genetic counseling.

Preterm birth, mother psychological state and mother- infant bonding.

BACKGROUND: The preterm birth represents a stressful situation that can lead to questions about the survival of the child and the possible consequences. AIM: To examine the interactions between mothers and premature babies in the neonatal care unit (NCU) and assess the psychological state of the mothers. METHODS: Cross-sectional study conducted from March to May 2017 in the Department of Pediatrics and Neonatology of the Mongi Slim Hospital (Tunis, Tunisia). Ten mothers of premature babies hospitalized in NCU were involved and responded to the Postpartum Bonding Questionnaire (PBQ), the Edinburgh Postnatal Depression Scale (EPDS) (cut off≥10) and the Hospital Anxiety and Depression Scale (HADS). RESULTS: The mean age of the mothers was 31 years. A personal history of depression was found in two mothers. The current pregnancy was not desired in three cases, two corresponded to mothers with a history of depression. According to interactions, the median PBQ score was 11. The EPDS median score was six; four mothers had a score greater than 10. A high level on the anxiety sub-scale of the HADS was found in the two mothers who had a personal psychiatric history. The more depressed or anxious the mothers were, the higher the interaction scores (p = 0.012 and p = 0.032, respectively). CONCLUSION: Preterm birth seems to affect the psychological state of mothers and their interactions with their baby.

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.

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.

[First seizure in children. Exploration strategy]. / Première crise convulsive de l'enfant. Stratégie d'exploration.

We have carried out a retrospective study on 51 children aged between 2 years 3 months and 13 years in order to determine the findings and to define the indications of neuroimaging modalities in children with a first unprovoked seizure. Children who had neuroimaging studies were divided into two groups based on the results of neuroimaging normal or abnormal. We have compared the two groups according to each clinical and electroencephalographic parameters studied. Neuroimaging abnormalities were found in 47% of cases. According to our results and literature review, we concluded that the imaging should be done if we have at least one of the criteria: an abnormal neurological examination after the seizure and focal slowing waves on the electroencephalogram.

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.

Diagnosis, management, and follow-up of systemic venous drainage via a single left superior caval vein into the left atrium.

A 15-month-old boy presented with asymptomatic hypoxaemia due to right-to-left venous shunting via a left superior caval vein emptying into the left atrium, in absence of right superior caval vein. The diagnosis, suspected by contrast echocardiography, was confirmed by computed tomography and angiography. The child underwent surgical correction of the systemic anomalous return by tunnelling the left superior caval vein towards the right atrium. An asymptomatic narrowing inside the intra-atrial baffle developed 6 months later.