Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

BACKGROUND AND AIMS: Allgrove syndrome is characterized by achalasia, alacrima, and adrenal insufficiency as well as being associated with progressive neurological signs. This is an autosomal recessive disorder due to mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes a protein of 546 amino acids, ALADIN. Mutations in this genwere reported in families from North Africa and Europe. Our objective is to conduct a clinical, molecular and genetic study of 26 Tunisian patients with Allgrove syndrome. METHODS: We report 26 Tunisian patients with between two and four clinical features associated with Allgrove syndrome. Blood samples were collected and isolated DNA derived from subjects was amplified. The entire sequence of the AAAS gene was analyzed by PCR and sequencing. PCR-RFLP method was performed to identify the frequent mutations found. RESULTS: Sequencing of the AAAS gene revealed a major homozygous mutation (c.1331+1G>A) in 25 patients and R286X mutation in one patient. The presence of a major mutation in several unrelated affected individuals suggests the presence of a founder effect in Tunisia and allows for a fast and targeted molecular diagnosis. CONCLUSIONS: We created an easy and rapid molecular enzymatic protocol based on PCR-RFLP using MvaI restriction enzyme that directly targets this major mutation and can be used for prenatal diagnosis and genetic counseling for Tunisian families at risk. To the best of our knowledge, this is the first major series report of Allgrove syndrome in Tunisia.

Liver injuries in children: the role of selective non-operative management.

BACKGROUND: Trauma remains the leading cause of mortality in the pediatric population. Liver injuries occur commonly in blunt abdominal trauma. AIM: To assess the selective non-operative management of liver injuries in children. METHODS: A retrospective review of 51 patients with a discharge diagnosis of traumatic liver injuries at Tunis Children's Hospital, over a 14-year period from 1996 to 2009. RESULTS: We identified 51 patients with liver trauma. The median age was 7 years. Boys accounted for 58% (n= 30), and the most common cause was traffic accident. Head injuries were the most common associated injuries. Forty-nine patients (96%) required non-operative management without complications. The mean in-hospital stay was 10 days in this group. The ultrasound demonstrated complete resolution and healing after 3-6 months. Two patients underwent surgery for hemodynamic instability. The mortality rate was 0.2 %. CONCLUSION: Safe, non-operative management involves careful serial examination, a CT scanning facility and close monitoring of the patient in a fully equipped high-dependency unit with trained staff to run it. Even though most patients can be treated non-operatively the challenge is to identify the severely injured child early and institute aggressive resuscitation and expedite laparotomy.

Management of perineal ectopic testes.

BACKGROUND: Perineal ectopic testis (PET) is a rare congenital anomaly in which the testis is abnormally situated between the penoscrotal raphe and the genitofemoral fold. AIM: we report six patients treated for PET. The epidemiological, clinical, radiological and therapeutic aspects of this rare entity are discussed in light of data of the literature. RESULTS: Between 2000 and 2009, six patients (0, 2%) treated for PET were diagnosed among 2156 patients operated upon for undescended testes in unity of paediatric surgery in Tunis children's hospital. The mean age was 21+/- 25 months. The abnormality was associated with an inguinal hernia in two cases. The diagnosis was based on the presence of an empty scrotum or perineal swelling. In all, orchidopexy in a dartos pouch was easily performed through an inguinal skin crease incision.The length of the testicular vessels and vas deferens was adequate with a favourable course in every case. Although the complications of undescended testes are the same as for PET, the timing of surgery should be different. CONCLUSION: It is generally accepted that children must not be below 6 months of age for surgical correction of undescended testes, but there is no need to delay surgery in PET, which can easily be diagnosed by physical examination in the neonatal period. Surgery is indicated even if there is no hernia present. The functional prognosis, always difficult to define, appears to be identical to that of other sites.

Indications for nephrectomy in children: what has changed?

BACKGROUND: The last decade has witnessed significant refinements in preoperative diagnostic evaluation and an improvement in surgical techniques and postoperative management for paediatric patients. There has been an improvement in our understanding of the natural history of some congenital renal anomalies which has caused some changes in management approach. AIM: To review the indications for nephrectomy in children between 1996 and 2008, at the departement of paediatric surgery, children's hospital in Tunis. METHODS: There were 80 nephrectomies. A retrospective review of the patients' notes was performed. The 13-year period was divided into two halves (1996-2000 and 2001-2008) which were then compared. RESULTS: The total number of nephrectomies per year significantly increased over the period of the study (4, 6 and 8 nephrectomies per year for 1996-2000 and 2001-2008, respectively; P < 0.05), as did the number of nephrectomies for Multicystic dysplastic kidney (MCDK) (zero and 5 for 1996-2000 and 2001-2008, respectively) and wilms'tumour (8.3% and 29,16% for 1996 - 2000 and 2001 - 2008, respectively). Wilms' tumour, vesico-ureteric reflux (VUR) and pelvi-ureteric junction (PUJ) obstruction accounted for more than half of the nephrectomies (80% and 58% for 1996-2000 and 2001-2008, respectively). The proportion of nephrectomies performed for VUR did not change (15% and 12% for 1996-2000 and 2001-2008, respectively) but fewer nephrectomies were performed for pelvi-ureteric junction (PUJ) obstruction in the second half of the study period (44% and 4,16% for 1996-2000 and 2001-2008, respectively ; P < 0.05). CONCLUSION: The total number of nephrectomies, including partial nephrectomies, has increased significantly. The decrease in nephrectomies for PUJ obstruction could be accounted for by a more aggressive approach in the management and follow up of prenatally diagnosed hydronephrosis. Of note is that there was no significant change in the proportion of nephrectomies performed for VUR. On the contrary, the proportion of nephrectomies increased for neoplastic lesions and MCDK.