Fanconi anemia complicated by neutropenic enterocolitis.

BACKGROUND: Neutropenic enterocolitis (NEC) also known as typhlitis is an acute, life-threatening inflammation of the small and large bowel often seen in patients with leukaemia undergoing cytotoxic chemotherapy: occasionally this syndrome could present in other immunocompromised patients. AIM: To report an unusual case of Fanconi anemia complicated by neutropenic enterocolitis. CASE REPORT: We report a case of a 13-year-old boy affected by Fanconi anemia with severe neutropenia and who presented neutropenic enterocolitis. Abdominal ultrasonography showed thickening of cecum and ascending colon of 1.18cm. The outcome was favourable with medical management. CONCLUSION: Neutropenic enterocolitis in Fanconi anemia is a rare and a severe illness: however, the outcome is improved with early management.

[Clinical characteristics and outcome of cystic fibrosis: report of 16 cases]. / Particularités cliniques et évolutives de la mucoviscidose. A propos de 16 observations.

AIM: The aim of this report is to determine clinical characteristics and outcome of Cystic Fibrosis (CF). METHODS: Cases of CF managed at Infantile Medicine A Department in Children's Hospital of Tunis during 13 years (1994-2006) were reviewed. RESULTS: 16 children had CF. They were 8 males and 8 females. 13 patients were consanguineous and four had similar familial cases. The mean age at diagnosis was 19 months (10 days, 13 years). 3/4 of patients were symptomatic within the first trimester of life. Revealing symptoms were: obstructive bronchopathy associated to chronic diarrhea (n=6), edema-anemia-hypotrophy-hypoproteinemia syndrome (n=3), meconium ileus (n=4), bronchiectasis (n=2) and chronic diarrhea (n=1). The diagnosis was confirmed by sweat test and genotypic data. The F508 del was the most frequent mutation (54%). Clinical outcome was characterized by the occurrence of respiratory and nutritional complications: acute respiratory failure (n=6), chronic respiratory failure (n=3), chronic pseudomonas aeruginosa infection (n=6) at a medium age of 3.8 years, recurrent haemoptysis (n=2), pleural effusion (n=2), a malnutrition (n =10) and diabetes associated to puberty delay in one patient. Seven patients died at mean age of 4.4 years (6 months, 17.3 years). Among surviving patients, six had no compromised nutritional status or lung function. Prenatal diagnosis was performed in three families. CONCLUSION: CF is characterized by earliest onset and severity of symptoms. Therapeutic insufficiency is the main cause of precocious complications and poor prognosis in our series.

[Congenital mesoblastic nephroma]. / Le néphrome mésoblastique congénital.

Mesoblastic nephroma is a rare renal tumour mainly observed in neonates and young infants. The authors report a case in a 5-day-old new-born infant presenting with an isolated abdominal mass occupying the left hypochondrium and flank. Ultrasonography demonstrated a 4 cm heterogeneous mass in the lower pole and middle of the left kidney. CT showed an intensely contrast-enhanced heterogeneous mass. The patient was treated by left radical nephrectomy with an uneventful postoperative course. The outcome was favourable without recurrence with a follow-up of one year. Mesoblastic nephroma is considered to be a benign tumour. The diagnosis is suggested by clinical, ultrasonographic and CT findings. Treatment is based on radical nephrectomy. In the light of this case, the authors discuss the clinical, radiological and therapeutic aspects of this tumour.