Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

Background: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have been described; the latter is also associated with sensorineural hearing loss.

Methods: Twenty-two Tunisian families were analyzed for mutations in the ATP6V1B1 and ATP6V0A4 genes by direct sequencing.

Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.

We have reported the first Tunisian case of triosephosphate isomerase (TPI) deficiency in a 2-year-old girl. She was the first child of a nonconsanguineous couple. The disease included a neonatal onset of chronic hemolytic anemia, recurrent low-respiratory infections then progressive neurological involvement.

Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?

We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set posteriorly rotated ears with overfolded thick helices.

Evaluation of a model for efficient screening of tuberculosis contact subjects.

Rationale: Contact tracing is an important component of tuberculosis (TB) control programs. Standardization of contact investigation protocols can make them more efficient.

Objectives: To develop a model to select contact subjects for screening.

[Hyperlipidaemia associated to inaugurated diabetic ketoacidosis].

Severe hyperlipidaemia in presenting diabetic ketoacidosis was rarely reported in child. We report the case of a three-year-old girl with presenting diabetic ketoacidosis. Family history was negative for hyperlipidaemia.

[Upper gastrointestinal endoscopy in neonates--experience of pediatric gastroenterology unit].

Unlabelled: The aim of our study was to assess the frequency of the different lesions occurring as well as to precise indications of upper gastrointestinal endoscopy in neonates.

Method: We have achieved a retrospective study about 128 neonatal gastrointestinal endoscopies. Three groups were constituted according to macroscopic findings: Group I: normal aspect (n=11); Group II: isolated esophagitis (n=19); Group III: esogastritis or gastroduodenitis or esogastroduodenitis (n=92).

[Congenital hepatic fibrosis in children. Report of 9 cases and review of the literature].

Congenital hepatic fibrosis is a recessive autosomic disease with two major risks: gastrointestinal haemorrhage caused by portal hypertension and cholangitis related to bacterial infection of dilated intrahepatic bile ducts.. The aim of our study is to define epidemiological features, the presenting symptoms, the diagnosis, the evolution and the management of this disease.