[A late diagnosis of CPT-2 deficiency]

CPT-2 deficiency is an autosomal recessive energy metabolism disorder that can present in three forms, the most common being the muscle form, which is characterized by recurrent episodes of rhabdomyolysis throughout life. The diagnosis is usually established during childhood or adolescence, but it may sometimes be delayed and made later in adulthood. Prompt emergency management helps prevent complications related to rhabdomyolysis.

We present the case of a 68-year-old patient diagnosed with CPT-2 deficiency 57 years after the initial episode, following an emergency admission for pyelonephritis associated with severe rhabdomyolysis. The medical history revealed a long-standing pattern of recurrent myalgias. Acylcarnitine profile was suggestive of CPT2 deficiency, which was confirmed genetically.

This case highlights the importance of considering the diagnosis of such inherited metabolic disease even in older patients. Indeed, subtle clinical presentation and resolution of symptoms between episodes can lead to significant diagnostic delays.