A Late-Onset Case of Neutral Lipid Storage Disease with Myopathy, Dropped Head Syndrome, and Peripheral Nerve InvolvementDaniela Tavian1, Sara Missaglia1, Salvatore DiMauro2, Claudio Bruno3, Elena Pegoraro4, Giovanna Cenacchi5, Domenico Coviello6 and Corrado Angelini4,7*
- *Corresponding Author:
- Corrado Angelini
Department of Neurosciences, University of Padua, Italy
E-mail: [email protected]
Received date: September 08, 2013; Accepted date:November 11, 2013; Published date: November 21, 2013
Citation: Tavian D, Missaglia S, DiMauro S, Bruno C, Pegoraro E, et al. (2013) A Late-Onset Case of Neutral Lipid Storage Disease with Myopathy, Dropped Head Syndrome, and Peripheral Nerve Involvement. J Genet Syndr Gene Ther 4:198. doi:10.4172/2157-7412.1000198
Copyright: © 2013 Tavian D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder of neutral lipid metabolism. Clinical manifestations include progressive skeletal myopathy, cardiomyopathy, and liver dysfunction. Clinical severity is variable and additional symptoms may include diabetes mellitus, chronic pancreatitis, hypothyroidism, neurosensory hearing loss, and short stature. We report a 79-year-old man with progressive proximal arm weakness, lipid storage myopathy, dropped head syndrome, and peripheral nervous system involvement. He harboured a novel homozygous missense mutation, c.570A>C (p.S191R) in the patatin-like phospholipase domain containing 2 (PNPLA2) gene, confirming the diagnosis of NLSDM. The S191R mutation causes late-onset NLSDM without cardiac dysfunction. The previously unreported association with dropped head syndrome expands the clinical spectrum of NLSDM.