Ngoné Diaba Diack

Systemic Diseases in Dakar (Senegal): Spectrum, Epidemiological Aspect and Diagnostic Time-Limit

Introduction: Systemic diseases have been the subject of few studies in the African literature and have probably been under-estimated. The objective of our study was to specify their spectrum, their epidemiological aspects and diagnostic delay in Internal Medicine Departments of Dakar (Senegal). Material and Method: It was a multicentric retrospective and descriptive study regarding all systemic diseases during 119 months from 1st January 2005 to 30 November 2014 in 5 hospital centers down Dakar. Systemic diseases were retained according to their international consensus criteria. Results: During the studying period, 726 patients were included with 632 women and 94 men (sex ratio of 0.14). The average age was 43.76 years. Inflammatory rheumatoid family history was noted in 10.06% of cases. Rheumatoid arthritis (RA) was the predominant affection, recorded on 564 patients, isolated or associated with other systemic diseases. It was followed in a decreasing order, in the systemic auto-immune diseases sub-groupe, by systemic lupus (56 cases), Sjogren’s syndrome (32 cases), Systemic Sclerosis (26 cases), Idiopathic inflammatory myopathies (21 cases), Undifferentiated connective tissue diseases (20 cases), Anti Phospholipid’s syndrome (6 cases) and Mixed connective tissue disease (6 cases). A diagnosis of systemic vasculitis was recorded in 19 patients. The other systemic affections were represented by systemic sarcoidosis (8 cases), Adult-onset Still’s disease (03 cases), amyloidosis (02 cases) and 02 cases of systemic syndrome associated to immunodeficiency. The mean diagnostic delay duration before the diagnostic was 3.46 years. Conclusion: Systemic diseases in internal medicine are characterized by their diversity, the clear predominance of RA, and significant diagnostic delay.

Management of Multiple Endocrine Neoplasia Type 2A (MEN 2A): Diagnostic and Therapeutic Concerns with the First Documented Senegalese Family

Introduction: Multiple endocrine neoplasia (MEN) type 2A is a multiglandular tumor condition inherited in an autosomal dominant manner. It is related to proto-oncogene RET mutation whose analysis is the best technique for family screening. It features in a variable way medullary thyroid cancer (MTC), primary hyperparathyroidism (HPT) and pheochromocytoma. The revealing manifestations of these tumors are often neglected for a long time and the screening should be systematic particularly in a known family context. Methods: After a family tree establishment of a MEN 2A index case, a family survey allowed to diagnose other cases in the family by means of biological, radiological and/or genetic examinations. Results: We report a family form of MEN 2A in a family of three households. In this family 13 people (index case included) were probed out of 34 members. The average age of our patients was 43.54. The sex ratio men/women was 0.85. The simultaneous diagnosis of a primary HPT and a MTC was carried out in our index case and constituted the circumstance of discovery of MEN 2A. The time limit of MEN 2A diagnosis on the other family members was on average 7.7 years. A MTC was recorded in 7 patients. It was asymptomatic in overall cases. A pheochromocytoma was present in only one patient. Primary HPT was found in four patients. Renal lithiasis with recurrent unilateral or bilateral nephritic colic attacks was the main manifestation. Besides the index case, 11 patients had a genetic testing. In 7 patients, a mutation on proto-oncogene RET located on the codon 634 was noted. A surgical care was carried out on 6 patients. We recorded three patients lost to follow-up. A patient died before surgery. In the index case, biological and radiological monitoring found a locoregional residual disease that indicated surgical revision and radiotherapy. Prophylactic thyroidectomy was not performed in any case driven by lack of compliance and/or low income. Conclusion: The discovery of a MEN 2A case imposes genetic survey allowing the screening of other cases in the family and the establishment of a preventive strategy.