Case Study of an Elderly Patient With New Onset Weakness

We present a patient presented with new onset progressive proximal weakness. On examination noted to have proximal weakness on upper and lower limbs, with preserved reflexes, without sensory involvement. Blood work revealed to have elevated creatine kinase. On electromyography testing shows myopathic features and also noted to have myotonic discharges. Muscle biopsy was obtained next which showed many vacuolization, marked increase in all fat content noted. These findings led us to checking carnitine levels which were noted to be significantly reduced with elevated carnitine palmitoyltransferase levels. These findings highly suggestive of systemic carnitine deficiency. Secondary causes of systemic Carnitine deficiency not identified in this patient and presumed to have primary systemic carnitine deficiency. Patient improved on oral supplementation of L- Carnitine.

Source: Journal of Clinical Neuromuscular Disease - February 22, 2022 Category: Neurology Tags: Case Review Source Type: research