Sickle cell disease: the Lebanese experience.

Sickle cell disease (SCD), the commonest single gene disorder worldwide, is an inherited disease that has different clinical and hematological manifestations in different populations. The objective of this study is to describe the characteristics of the Lebanese SCD population. This was a retrospective study that included information on 387 patients with either sickle cell anemia (SS) or sickle beta-thalassemia (ST). The mean (+/-SD) age was 17.9 years (+/-12.5), and the mean (+/-SD) follow-up was 9.3 +/- 6.9 years. Fifty percent of the patients were males and SS/ST distribution was 3 : 1. The disease was clustered in two geographic areas in North and South Lebanon. Nearly, all patients were Muslims and 56% were the offspring of consanguineous parents. The prevalence of splenomegaly beyond 6 years of age among SS patients was 28.9%. The prevalence rates of stroke, leg ulcers and priapism were 4.1%, 1.4%, and 0.8%, respectively. Comparing the SS and the ST patients, there were no statistically significant differences in the prevalence of all clinical manifestations except for splenomegaly (SS: 28.9%, ST: 54.9%, P-value < 0.001) and splenectomy (SS: 16.1%, ST: 35.7%, P-value < 0.001). In contrast to Northern American populations and similar to some Mediterranean populations, Lebanese SCD patients have a higher prevalence of persistent splenomegaly. The relatively low incidence of thrombotic complications deserves further investigation. The study's limitations include those of any other retrospective study and the fact that not all Lebanese centers caring for inherited hemoglobin disorders were included. However, the results of this first large scale national survey indicate that preventive efforts should target the Northern and Southern regions of Lebanon to decrease the number of new off springs afflicted with this disease similar to what has been successfully achieved with Thalassemia, another hemoglobinopathy that is highly prevalent in the country.

Use of desmopressin as an alternative to corticotropin-releasing hormone during inferior petrosal sinus sampling in a child with Cushing's disease.

Cushing's syndrome (CS) is rare in children. Information on bilateral inferior petrosal sinus sampling (BIPSS) in children with CS is limited. In the procedure CRH is always used to stimulate ACTH values. In addition, growth failure is the main complication of pediatric CS, mainly due to a profound GH suppression that persists for a few months after cure of the disease. Early treatment with recombinant GH after CS cure may partly reverse this phenomenon. We report herein a case of Cushing's disease (CD) in a 7-yr-old child, presenting with severe growth failure. No pituitary adenoma was shown on magnetic resonance imaging and a BIPSS using desmopressin allowed the identification of a central to peripheral (C/P) gradient; however transphenoidal surgery (TSS) did not cure the disease thus requiring the performance of bilateral adrenalectomy. After cure of the disease, a partial catch up of the growth delay occurred without any GH treatment. Our case reinforces the fact that BIPSS can be performed safely in very young children with CD. It also suggests for the first time that the use of desmopressin during the procedure gives the same information as CRH, as well as confirming the fact that the success of TSS is poor in very young children. Finally, it suggests that growth failure in children with CS can be partially reversed after surgical cure of the disease without any GH treatment and that the high IGF-I observed during corticosteroid replacement therapy is due to a state of IGF-I resistance.