A 14-year-old male with a history of thrombopenia, who was referred to Neurologic Consultation/90 UI due to an increase in transaminases (up to 1864 IU/L), lactate dehydrogenase (LDH) 4
The patient reported being previously asymptomatic, except for mild asthenia when performing moderate exercise, such as running or climbing stairs, occasionally associated with cramps and myalgia.
Deepening the history, she reported having also presented an isolated episode of macroscopic hematuria after performing previous exercise.
The examination was normal.
An electroencephalogram, an electromyography and a muscular magnetic resonance of the lower extremities were performed, without showing alterations in any of these complementary tests.
A muscle biopsy showed myophosphorylase deficiency with no other added alterations.
The molecular study showed the presence of p.R50X (c.148C>T) and p.R490W (c.1468C>T) mutations in the compound heterozygosis diagnosis.
The patient was referred to nutrition and dietetics, prior to the dietary coupling two episodes of rhabdolysis that required admission to the pediatric intensive care unit.
Currently the patient is asymptomatic, with normal CPK values, following nutritional support guidelines and outpatient controls in Pediatric Neurology and Nutrition.
