Clinical Follow-Up and Histopathology of the Temporal Bones in Nathalie Syndrome

Abstract

The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by sensorineural hearing impairment, juvenile cataract, spinal muscular atrophy, skeletal abnormalities, retardation of growth, underdeveloped secondary gender characteristics and cardiomyopathy. Worldwide, only one family with this syndrome is known. An update of the clinical follow-up in this family and the results of autopsy are given. Audiometry showed a downsloping configuration that corresponded to the findings at histopathological examination of the cochlea: a diffuse atrophy of the organ of Corti, severe and diffuse atrophy of the stria vascularis and moderate loss of cochlear neurons in all turns. Another new striking feature is that individuals with the Nathalie syndrome have a shortened life expectancy with a risk of sudden death or death from heart failure resulting from (dilated) cardiomyopathy.

EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

“…Bulbospinal muscular atrophy (BMA) may be present in patients with BVVL, Nathalie, Madras, and, in adults, the Kennedy syndrome [2,5,8,9]. BVVL syndrome is due to mutation of SLC52A2 and SLC52A3 genes, encoding for proteins necessary for riboflavin transport [13].…”