CLINICAL PHENOTYPE OF DESMOSTEROLOSIS

We describe a child with lethal multiple malformations and generalised accumulation of desmosterol, The infant had macrocephaly, a hypoplast ic nasal bridge, thick alveolar ridges, gingival nodules, cleft palate , total anomalous pulmonary venous drainage, ambiguous genitalia, shor t limbs, and generalised osteosclerosis, Gas chromatography-mass spect rometry demonstrated an abnormal accumulation of desmosterol in kidney , liver, and brain, Higher than normal levels of the same sterol were detected in plasma samples obtained from both parents. The biochemical phenotype in this infant is highly suggestive of a novel inborn error of cholesterol biosynthesis caused by an autosomal recessive deficien cy of 3 beta phydroxysterol-Delta(24)-reductase. A phenotypic overlap of this case with Raine syndrome was noted; however, desmosterol accum ulation was not found on postmortem tissue samples from a previously r eported case of this disorder, (C) 1998 Wiley-Liss, Inc.