Jordans' anomaly in a new neutral lipid storage disease

Abstract

Background Muscle disorders of lipid dysmetabolism include neutral lipid storage disease (NLSD), a clinically heterogeneous group of autosomal recessive diseases. They are characterized by excess triacylglycerol that accumulates in cytoplasmic droplets in muscles, in many tissues, and in leukocytes. Lipid inclusions within leukocytes were first described by Jordans in 1953 [1]. So far, four different lipid storage myopathies have been characterized. Patients show slowly progressive muscle weakness and the clinical phenotype variably includes ichthyosis, fatty liver, mental retardation, ataxia, neurosensory hearing loss, cataracts, nystagmus, strabismus, intestinal involvement, and cardiomyopathy. There is a great variability in pattern and degree of systemic involvement, and so far mutational analysis is of limited use in clinical practice for a correct diagnosis. Ichthyosis and hepatomegaly are pathognomonic features of Chanarin-Dorfman syndrome (CDS) [2,3]. CDS is characterized by ABHD5 (also known as CGI-58) mutation, which causes the truncation of encoded proteins with malformation of lamellar granules, resulting in ichthyosis (NLSDI) [4]. Recently, Fischer et al. demonstrated a new NLSD, characterized by mild myopathy, absence of ichthyosis, and mutations in the gene encoding adipose triglyceride lipase (PNPLA2) [5].