Characteristics and etiologies of short stature in children: Experience of an endocrine clinic in a Tunisian tertiary care hospital.

Background: Short stature is a common reason for referral to pediatric endocrinology clinics. It may be a manifestation of a pathological condition requiring early treatment. The aim of this study was to describe the characteristics and etiologies of short stature among children referred to the pediatric endocrinology clinic of the main pediatric tertiary care center in Tunisia.

Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem?

Background: Hypothyroidism with impairment of renal function and raised creatinine phosphokinase (CPK) is described in adults and children with acquired hypothyroidism, but not in congenital hypothyroidism.

Case Presentation: A male infant born at term weighing 3390 g was seen aged 2 months with prolonged jaundice. Examination showed somnolence, umbilical hernia, enlarged fontanelles and lower limb edema; length 55 cm (-1.

Influenza A/H1N1 pdm 09 in children's Hospital Bechir Hamza of Tunis.

Background: Influenza A (H1N1) is a contagious acute respiratory infection caused a pandemic in 2009. The outcome was variable among populations.

Aim: To describe a clinical spectrum and the outcome of Tunisian children with pandemic H1N1/09 influenza virus.

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.

Introduction: Pyruvate kinase (PK) deficiency is one of the most common hereditary nonspherocytic hemolytic anemias worldwide with clinical manifestations ranging from mild to severe hemolysis. However, investigation of this enzymopathy is lacking in Tunisia. We report here a pioneer investigation of PK deficiency among Tunisian cases referred to our laboratory for biological analysis of unknown cause of hemolytic anemia.

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

Chronic granulomatous disease (CGD) is the prototypic functional neutrophil disorder caused by genetic defects in one of the five genes encoding the superoxide-generating nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase subunits of phagocytes. Mutations causing the most prevalent form of CGD in western populations are located in the X-linked-CYBB gene. The four remaining autosomal recessive (AR) forms collectively account for one-third of CGD cases.

[Endoscopic realignment versus delayed urethroplasty in the management of post traumatic urethral disruption : report of 30 cases].

Background: Post traumatic posterior urethral disruption is a common condition, its treatment is controversial.

Aim: To assess the long term results of endoscopic realignment compared with delayed urethroplasty, in the management of post traumatic urethral disruption.

Methods: Between February 2002 and March 2009, 30 patients have been operated for post traumatic posterior urethral disruption.

Paratesticular pleomorphic rhabdomyosarcoma: a report of two cases.

Pleomorphic rhabdomyosarcoma (RMS) is a rare tumor with an aggressive behavior, described mainly in adulthood. Herein we present two cases of paratesticular pleomorphic RMS in 71- and 16-year-old patients with metastases at initial diagnosis. Histological, immunohistochemical, and ultrastructural findings were essential to confirm diagnosis.

A colourachal-cutaneous fistula: a report of an unusual case.

Urachal anomalies are rare affections due to incomplete closure of urachus during foetal period. Colo-urachal-cutaneous fistula is an uncommon complication of urachal anomalies. Only three cases have been reported so far in the literature.

δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients.

Background: β-Thalassemia is the most common disease among hemoglobinopathies in North African and Arab populations. In the present study we report the first description of the β-Knossos codon27 (G→T) (βKnossos) allele in cis with the δ059 (-A) mutation in thalassemia intermedia patients in Tunisia and Libya.

Methods: This identification was carried out by sequencing analysis of the whole coding regions of the δ- and β-globin genes.

Community-associated methicillin-resistant Staphylococcus aureus infections in a pediatric intensive care unit.

Introduction: Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) infection is an increasing problem worldwide. In developing countries, there is little data on CA-MRSA infection in children. This study reviewed the clinical features and outcomes of children admitted in a Tunisian pediatric intensive care unit with severe CA-MRSA infections.

Datura stramonium L. poisoning in a geophagous child: a case report.

Datura stramonium L. (DS) is a wild-growing plant widely distributed and easily accessible. It contains a variety of toxic anticholinergic alkaloids such as atropine, hyoscamine, and scopolamine.

Abdominal tuberculosis in children.

Background: Abdominal tuberculosis (TB) includes infection of the gastrointestinal tract, peritoneum, mesentery, abdominal lymph nodes, liver, spleen, and pancreas. The most common forms of abdominal TB in children are adhesive peritonitis and nodal disease.

Patients And Methods: We report our experience with abdominal TB treated in our hospital from 1995 to 2008.

Extra-pulmonary tuberculosis in children: a study of 41 cases.

Background: Extrapulmonary tuberculosis accounts for up to one third of all cases of tuberculosis and children show a higher predisposition to the development of extra-pulmonary tuberculosis.

Aim: To review the clinical features of the extrapulmonary tuberculosis in children.

Methods: forty one children with extrapulmonary tuberculosis followed in the Children Hospital of Tunis between January 1995 and December 2007 were reviewed.

Central system nervous tuberculosis in infants.

The lack of specific symptoms and signs in patients with tuberculous meningitis makes early diagnosis difficult. In this report, we reviewed the clinical features and laboratory findings of 6 infants with central system nervous tuberculosis during a 10-year period. One of the patients had multifocal tuberculosis.

Focal xanthogranulomatous pyelonephritis: success of conservative treatment. A case report.

Background: Focal xanthogranulomatous pyelonephritis is an atypical form of chronic renal infection. It is frequently misdiagnosed preoperatively because of its resemblance to malignancy.

Case Report: We report on a fifty-year-old woman who presented with a right kidney mass.

[Clinical and etiological features of primary adrenal insufficiencies in children].

Background: The chronic primary adrenal insufficiency or Addison's disease is uncommon in children and belongs generally to a complex syndrome.

Aim: Study of the clinical and aetiological features of primary adrenal insufficiencies in children.

Methods: In a retrospective study, we reviewed clinical and diagnostic data of all cases of Addison's disease admitted within a period of 15 years (from january 1991 to December 2006), in a department of paediatrics.

Etiology and outcome of bronchiectasis in children: a study of 41 patients.

Background: Bronchiectasis remains an important cause of chronic suppurative lung disease in the developing world. The aim of this study is to describe the epidemiological characteristics, clinical features, underlying aetiologies and outcome of bronchiectasis in the paediatric hospital of Tunis.

Methods: A retrospective study of 41 children with bronchiectasis was conducted between January 1994 and December 2006.