ABSTRACT
Hereditary osteo-onycho-renal dysplasia is a rare genetic disorder also known as nail patella syndrome. It is an autosomal dominant hereditary disease with complete penetration but variable expressivity. The basic manifestations include: iliaque horns, finger nail abnormalities, patella hypoplasia or aplasia and elbow deformities. Nephropathy accompanied by mild proteinuria is also thought to be a commun manifestation. We report the case of 7 years old boy and his family who show clinical features of NPS
ABSTRACT
Malignant corticossurrenaloma is very rare in childhood. It occurs more often before the age of 5 years. Its pathogeny remains unknown but a genetic predisposition was suggested. The tumor is usually of secreting type and revealed by virilisation and/or Cushing syndrome, seldom by feminization and exceptionally by Conn syndrome. We report the case of a 7 years old girl who presented with a hetero-sexual precocious pseudo-puberty associated to a Cushing syndrome. The clinical examination found an abdominal mass. Hormonal investigation confirmed androgen and gluco-corticoid hypersecretion. Malignancy of the tumor was evoked by MRI. Evolution was marked by a tumoral rupture which required a laparotomy in emergency. The anatomo-pathological examination confirmed the diagnosis. In spite of a favorable immediate post operative evolution, the child died eight days later. Through this observation, we discuss the clinical, biological, therapeutic and evolutive aspects of this affection