Aspectos clínicos de la enfermedad por almacenamiento de glucógeno: a propósito de un caso.

Glycogen storage diseases comprise inherited pathologies caused by enzyme and transporter abnormalities in glycogen synthesis and degradation. Clinical data include fasting lactic acidosis, hypoglycemia and hepatomegaly which can help guide the diagnosis. Diagnosis is suspected based on clinical presentation. In the past, definitive diagnosis required a liver biopsy to demonstrate glycogen deposition. However, mutational analysis of genes is now performed as a non-invasive approach. We present the case of a 19-month-old female patient, multiconsultant to the emergency department for episodes initially considered as focal crises (hypertonia of upper and lower limbs, sucking, fixed gaze) associated with hepatomegaly. She was evaluated by several specialties, with multiple managements without improvement. Finally, a diagnosis of glycogen storage disease was made by liver biopsy. [ABSTRACT FROM AUTHOR]