First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.

Introduction: MEGDEL syndrome is a rare recessive disorder, with about 100 cases reported worldwide, which is defined by 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E) and Leigh-like syndrome (L). When these manifestations were added to hepatopathy (H), the syndrome was labelled as MEGD(H)EL. Mutations in SERAC1 gene encoding a serine active site containing 1 protein were described in patients affected by this syndrome.

Tracheal agenesis clinical presentation in a preterm infant: Prenatal MRI difficulties and autopsy findings.

We describe, the clinical presentation of a rare case of Tracheal Agenesis in a preterm infant and we highlight magnetic imaging resonance (MRI) and autopsy findings to better characterize this anomaly. A 30-year-old female presented for acute polyhydramnios at 30 weeks gestation of a male foetus. Prenatal MRI was performed and excluded this diagnosis.

Inborn Errors Of Metabolism In Neonatal Period: A Challenging Management In Tunisia.

Objective: To assess clinical presentation of inborn errors of metabolism in neonatal period and to identify challenges in their management.

Methods: This is a retrospective study carried out in the department of Intensive Care and Neonatal Medicine of Monastir in Tunisia from January the 1st 2010 until December the 31st 2017. All hospitalized newborns with life-distress related to confirmed or suspected IEM were included.

Neonatalogist-performed echography in neonatology: a Tunisian experience.

Introduction: Echocardiography is an important tool for diagnosis of cardiac abnormalities that can impact the management and outcome of the sick newborn in the intensive care unit. A preliminary echocardiogram performed by the neonatologist under the supervision of a paediatric cardiologist for interpretation and review is an alternate when there is not a cardiologist on site. The aim of this study was to evaluate frequency of use, neonatal characteristics, and indications of neonatologist-performed echocardiography in a Tertiary Neonatal Care Centre in Tunisia.

Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child.

Methylmalonic acidemia or aciduria (MMA) is an inborn error of metabolism that results in the accumulation of methylmalonic acid in blood with an increased excretion in urine. MMA usually presents in early infancy and its effects vary from mild to life-threatening. The clinical symptoms mainly include vomiting, dehydration, hypotonia, developmental delay, and failure to thrive.

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.

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.

Background: Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the sSMC derived from chromosome 18 by Fluorescence in situ hybridization (FISH) and Array Comparative Genomic Hybridization (aCGH).

Extremely preterm infants in Tunisia: Where are we now?

Background: Extremely preterm infants are newborns born before 28 weeks of gestation. Survival of these immature newborns depends on resuscitation and the quality of care during hospitalization.

Objective: To determine survival and neurologic outcomes at2 years after extremely preterm birth.

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Background: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder.

Case Presentation: This study is the first report of the coexistence of Noonan (NS) and Incontinentia Pigmenti (IP) syndromes in the same patient.

Pericardial effusion with cardiac tamponade caused by a central venous catheter in a very low birth weight infant.

With more and more extreme premature and very low-birth weight babies being resuscitated, umbilical central venous catheterisation is now being used more frequently in neonatal intensive care. One of the life-threatening complications is pericardial effusion and cardiac tamponade; however, it is potentially reversible when it is caught in time. The authors present a case of cardiac tamponade following umbilical venous catheterisation in a neonate.

[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].

Background: Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and sensorineural hearing loss. It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI.

Laparoscopic treatment of hydatid cyst of the liver in children. A report on 34 cases.

Purpose: This study evaluated the safety and efficiency of laparoscopically treated liver cysts in children.

Methods: From September 2001 to July 2004, 34 patients underwent laparoscopic treatment of hydatid cysts of the liver. All patients had chest x-ray, abdominal sonography, and hydatid serology.

[Pyelogenic cyst in children].

Pyelogenic cyst is an intraparenchymal renal cavity lined by transitional cell epithelium which communicates with a calyx via a neck. It is a rare disease, often discovered incidentally. The diagnosis is based on imaging.