{Reference Type}: Case Reports
{Title}: Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
{Author}: Landim JID;Ribeiro IS;Oliveira EB;Freitas HC;Brito LA;Maia IHM;Távora DGF;Rodrigues CL;
{Journal}: BMC Neurol
{Volume}: 23
{Issue}: 1
{Year}: 2023 Apr 27
{Factor}: 2.903
{DOI}: 10.1186/s12883-023-03195-6
{Abstract}: <B>BACKGROUND: </B>Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case of association of pathogenic variants on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen's congenital myotonia.<BR><B>METHODS: </B>We describe a patient with chronic proximal myopathy, subtle clinical myotonia and electrical myotonia on electromyography (EMG). Serum laboratory analysis disclosure hyperCKemia (CK 1280 mg/dL). A blood smear analysis showed Jordan's anomaly, a hallmark of NLSD-M. A genetic panel was collected using next-generation sequencing (NGS) technique, which identified two pathogenic variants on genes supporting two different diagnosis: NLSD-M and Thomsen congenital myotonia, whose association has not been previously described.<BR><B>CONCLUSIONS: </B>Although uncommon, it is important to remember the possibility of association of pathogenic variants to explain a specific neuromuscular disease phenotype. The use of a range of complementary methods, including myopathy genetic panels, may be essential to diagnostic definition in such cases.