X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa

Adrenal hypoplasia congenita (AHC) is a rare disease. The X-linked form of AHC is caused by deletions or mutations in DAX1 gene and has a variable clinical presentation. To date, no data on X-linked AHC in central Africa are available. Here, we report a Congolese pedigree with several cases of unexplained deaths of male infants. A careful analysis of the pedigree of this family lead to the recognition of an X-linked inheritance pattern, with subsequent confirmation in a female heterozygous carrier of a DAX1 missense mutation c.1274G>T, (p.Arg425Ile).The diagnosis of this condition remains challenging in a developing country, since the manifestations of AHC overlap with those of the much more frequently occurring infections; darkening of the skin is difficult to evaluate and there is a lack of access to routine endocrinological testing. The diagnosis was eventually made based on the family pedigree, evoking an X-linked inheritance pattern. This illustrates the necessity for medical and clinical genetics to be part of the curriculum of medical school in developing countries.status: publishe

A rare occurrence of neonatal nephroblastoma in sub-Saharan Africa: a case report and management in a resource-constrained region

Neonatal nephroblastoma has been rarely reported in African neonate. A premature newborn (a 5-day-old male) was transferred with a history of neonatal abdominal mass. Ultrasonography revealed 75×46 mm, well-defined mass with mixed echogenicity replacing the right kidney. The patient underwent right radical nephrectomy and the tumor was confirmed to be a blastemal predominant Wilms’ tumor by the histopathological examination and has an unfavorable prognosis. The child died secondary to multiple organ failure, three days after surgery. Our case report serves to remind us the need to bear in mind the possibility of the diagnosis of neonatal nephroblastoma in neonate with renal mass