Jordan bodies as a diagnostic clue in neutral lipid storage myopathy

A 25-year-old female presented with slowly progressive proximal-predominant upper-limb weakness for 10 years, followed by distal upper-limb, lower-limb and neck weakness and exertional dyspnea over 3 years. She was born to non-consanguineous parents, with a history of neonatal death in three siblings. Examination revealed short stature, thickened skin over the knuckles and bilateral pes-cavus. The cranial nerves examination was normal. Motor examination showed generalized muscle wasting and hypotonia in all four limbs. Upper limb strength was reduced (modified research council (MRC) 2/5 at shoulders, elbow flexors, and wrist extensors; 3/5 at elbow extensors and wrist flexors), while lower limb strength was preserved except for ankle dorsiflexion (3/5 left, 4/5 right). Biceps and triceps reflexes were absent, with preserved supinator, knee and ankle reflexes. Serum creatine kinase was elevated (1803 IU/l), and electromyography showed a myopathic pattern. Muscle magnetic resonance imaging (MRI) revealed fatty infiltration of the gluteal, posterior thigh and leg muscles. Cardiac MRI showed elevated native T1 mapping and extracellular volume (ECV) values in the left ventricular myocardium, consistent with interstitial myocardial fibrosis. The peripheral smear revealed lipid-laden vacuoles within leukocytes, Jordan bodies (Figure 1). Whole-exome sequencing identified a homozygous PNPLA2 mutation (c.746T>C; p. Leu249Pro), confirming neutral lipid storage disease with myopathy (NLSDM).