The challenging diagnosis and management of the prune belly syndrome: A case report.

Prune belly syndrome is a rare disorder that occurs mainly in men. It is characterized by the triad of deficient abdominal wall muscles, the dilated urinary collecting system, bilateral cryptorchidism, and infertility. It mainly affects the genitourinary system, which involves the prognosis. We present the case of a preterm neonate male whose diagnosis of a prune belly was suspected in antenatal ultrasound. He had a urinary tract abnormality starting at 22 weeks of gestation. At birth, a clinical examination revealed a distended abdomen within a wrinkled and flaccid abdominal wall, a macropenis, and bilateral cryptorchidism. A urinary tract ultrasound revealed a right pyelocaliciel dilatation and a right megaureter with a megacystis. The neonate ultimately died due to severe renal failures. Prune Belly syndrome is a complex disease with a high mortality rate. Early antenatal ultrasound may ameliorate the prognosis.

Treacher Collins syndrome: A case report and review of literature.

Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation. Prenatal diagnosis could be realized by genetic testing of a chorionic villus sample or amniocentesis if one of the parents is affected. At birth, the most common features are downward-sloping palpebral clefts, small badly hemmed and folded ears, and mandibular hypoplasia which could lead to respiratory distress. All of these clinical features exist in our case. Goldenhar syndrome shares with TCS some facial features which are not symmetrical and it is also associated with vertebral abnormalities. Some patients with TCS are exposed to many complications and they require multi-disciplinary medical care. But all of them need psychiatric care to fight social rejection. The aim of our report is to describe the most common features of TCS and similar syndromes. Also, report the involved genetic mutations, some associated complications, and their management.

Congenital lung malformations : analysis of 27 cases.

INTRODUCTION: Congenital lung malformations (CLM) include a complex range of developmental abnormalities. Currently, most are diagnosed prenatally or during early childhood. OBJECTIVE: to investigate clinical and imaging findings of congenital lung malformations in children. METHODS: Retrospective study of CLM diagnosed between 2000 and 2017 at the pediatric and neonatology department of Hedi Chaker Hospital. Analysis of clinical spectrum, diagnosis tools, and radiological appearances. RESULTS: Twenty seven cases of CLM have been investigated: 8 congenital lobar emphysema, 8 congenital cystic adenomatoid malformation, 8 pulmonary sequestrations, 2 bronchogenic cysts, and 1 hybrid lesion. Five (18,5%) patients were diagnosed antenatally and 22 (81,4%) postnatally. Symptoms occurred at a mean age of 9 months: Respiratory distress (11 cases), wheezing (4 cases), and pneumonia (7 cases). Antenatal ultrasound features include echogenic masses within the chest (2cases), the presence of cysts (2cases), unilateral pleural effusion (1 case) and hydramnios (2cases). A computed tomography scan was performed in all patients with a radio-histological concordance of 96%.

Transported neonates in Tunisia.

AIMS: To describe the transport of sick neonates to a tertiary care hospital and evaluate their condition at arrival and outcome. METHODS: A multicenter, prospective cohort study was performed in 7 NICUs in Tunisia from 1st april to 31 July 2015.Demographic parameters, transport details and clinical features at arrival were recorded. All neonates were followed up till discharge or death. RESULTS: A total of 239 consecutive neonates were enrolled in the study representing 5.7% of all admitted infants. Maternal risk factors were present in 26% of neonates admitted. Sex-ratio was 1.46. Preterm infants represented 24% of transported babies. Seventeen percent of neonates had severe respiratory distress and 10% had hemodynamic troubles. Referred hospital was not informed in 24% of cases. Regarding the transport mode, 113 newborns (47.5%) were transported in ambulance accompanied by a nurse. Documentation during transfert was present in 14% of cases. Five babies expired on arrival despite resuscitation.  Rate mortality was 8.4%. CONCLUSION: Transporting neonates in developing countries is a challenge. Organized transport services in Tunisia are not always available. So, in cases of at-risk pregnancy, it is safer to transport the mother prior to delivery than to transfer the sick baby after birth.

Is there a Place for Prebiotics in the Management of Neonatal Inguinal Hernia? A Preliminary Study.

The objective of this study was to assess the place of prebiotics in the management of neonatal inguinal hernia. Boys with a diagnosis of unilateral non-complicated inguinal hernia, aged less than 40 days, were prospectively followed from January 2012 to December 2014. Clinical and psychiatric data and outcomes were collected before and after prebiotics (Primalac AC) administration. Ninety-eight patients were included. There were 75 inguinal hernias and 23 inguino-scrotal hernias. Before prebiotics administration 72.2% of infants had abdominal distention and 98% had colic. After prebiotics, abdominal distention and colic regressed in 85.2% and 73.2% of patients, respectively. Hernias disappeared clinically in 66.3% of cases. The factors associated with the disappearance of hernias were the type of the hernia (p<0.001), colic (p<0.001), and abdominal distention (p<0.001). Prebiotics would be a new adjunct in the management of neonatal inguinal hernia. They decrease colic and abdominal distention, which seems helpful to prevent strangulation and probably get spontaneous resolution of small hernias.

Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate.

AIM: To investigate the previously unknown birth incidence, treatment, and mortality of children with congenital heart disease in Tunisia. METHODS: We undertook a retrospective review of medical records of all patients who were born in 2010 and 2011, and were diagnosed in Sfax (Tunisia) with congenital heart defect. RESULTS: Among 37,294 births, 255 children were detected to have congenital heart disease, yielding a birth incidence of 6.8 per 1000. The most frequently occurring conditions were ventricular septal defects (31%), ostium secundum atrial septal defects (12.9%), and pulmonary valve abnormalities (12%). Coarctation of the aorta, tetralogy of Fallot, univentricular physiology, pulmonary atresia with ventricular septal defect, and transposition of the great arteries were found in 4.3%, 6.2%, 3.4%, 2.7%, and 2.7%, respectively. During the follow-up of 1 year, 23% of the children died. About three-quarters of those deaths happened before surgery. CONCLUSION: The present study is in line with the general estimates in the world. It has revealed a high case of mortality among the patients awaiting corrective surgery. These children need more facilities.