title: [A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study].
abstract: The term nephrosialidosis is proposed to describe a type of oligosaccharidosis in which a glomerular nephropathy develops early and causes death in the early years of life. The clinical and radiological features of the disease are dysmorphic facies, visceral storage disease, early and severe mental retardation and skeletal abnormalities of a type often described in this group of diseases. Foam cells were present in the marrow and, late in the illness, a cherry red spot was present on fundoscopy. The condition is inherited as an autosomal recessive. The leucocytes were deficient in alpha-(2-6) neuraminidase, an abnormality that has also been described in mucolipidosis type I and in other conditions quite distinct from nephrosialidosis. Thus the conditions characterised by this enzyme deficiency are definitely heterogeneous.
mesh_terms: D005132:Eye Manifestations; D005260:Female; D005487:Foam Cells; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000175:diagnosis; D007678:Kidney Glomerulus; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009439:Neuraminidase / Q000172:deficiency; D010024:Osteoporosis / Q000175:diagnosis; D013577:Syndrome
chemical_list: D009439:Neuraminidase
vernacular_title: Un nouveau type de sialidose avec atteinte rénale: la nephrosialidose. I. Etude clinique, radiologique et nosologique.