ESPE Abstracts

Aphallia is a very rare congenital anomaly of urogenital tractus, it's rarely described, only hundred cases are reported in world literature. We report a case of A.B 2 months old who presents an aphallia in male with well developed testicles, the urethral meatus is opening to the anterior wall of the anal sphincter, ultrasound examination showed the absence of the penis and the corpora cavernosa, confirmed by the magnetic imaging. The radiological explorations of digestiv...

Introduction: Noonan syndrome (NS) is a dominant autosomal genetic disorder caused by a mutation in the RAS–MAPK pathway. The clinical manifestations usually reported in NS are short stature, pulmonary stenosis, cryptorchidism, hematological abnormalities and dysmorphic face.Patients and Methods: We studied the demographic characteristics, clinical presentations and treatment patterns associated with NS, integratin...

Background: Graves’ disease (GD) is a rare autoimmune affection in children with a female predominance. Its prevalence is about 0,1/100 000py in children and 3/100 000 py in adolescents and characterized by more important frequency of relapse than adults after medical treatment.Aim: Is to evaluate clinical biological radiological and treatment outcome of children and adolescents affected by GD in nine Algerian hosp...

Introduction: Leprechaunism syndrome is a very rare genetic autosomal recessive disorder (Prevalence 1 in a million births), and is caused by mutations in the insulin receptor gene.Case presentation: We report the case of a 5-month-old Algerian female, born to consanguineous parents. Birth was via caesarean section at 37 weeks gestation due to severe intrauterine growth restriction: birth weight 1800 g (< - 3.66SD), h...

Case presentation: We report the case of Imad, a 2-year- old Algerian boy referred with a 2-month history of polyuria and polydipsia. Diabetes insipidus was diagnosed by confirming hypernatremia with hyperosmolar serum and inappropriately dilute urine. His polyuria and polydipsia improved dramatically using the oral vasopressin analog. The child had no clinical signs of underlying disease, serum tumor markers were not detected and a skeletal survey suggested n...

Background: Tall stature is defined as height >02 S.D. above the population mean. The most common cause is normal familial tall stature, but some cases are pathological and require special attention.Observations: We report four clinical cases corresponding to four diagnostic categories. We describe the diagnostic approach and difficulties encountered through these cases.Case 1: A boy aged 25 months was referred f...