A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy

Abstract

Background: Pompe disease is an autosomal recessive glycogen storage disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase. The adult-onset form, late-onset Pompe disease, has been characterized by glycogen accumulation, primarily in skeletal and smooth muscles, causing weakness of the proximal limb girdle and respiratory compromises.

Case report: A 59-year-old female was admitted to the hospital with acute cerebral stroke at the age of 57years. Following her admission, conventional conservative stroke management followed by cerebral arterial clipping was performed. However, weakness of lower extremities, predominantly in the right side, and evening headache were persisting. After obtaining a careful past history, she noticed that she had a history of recurrent respiratory tract infection and she did not like any physical exercise in school. She also complained of gait disturbance since 32years of age. She had also been suffering from systemic hypertension since 40years of age. She had mild respiratory and swallowing difficulties. Her brain Magnetic Resonance (MR) revealed multiple infractions and white matter degeneration with irregular basilar arterial walls. A computed tomography (CT) scan of lower extremities showed diffuse fibrosis of the proximal muscles predominantly on the right thigh. Cardiac echocardiogram showed left ventricular hypertrophy. Electron microscopy of blood cells including lymphocytes and platelets and skin fibroblasts showed marked granular inclusions in lysosomes, suggesting glycogen accumulation. Her measured acid α-glucosidase activity was very low, 1.3 pmol hour^-1 punch^-1, and we found a homozygous splice-site mutation c.546G>T in the GAA gene.

Conclusion: Cerebral stoke as an initial finding for an adult-type Pompe disease is rare. Left ventricular hypertrophy is also rarely reported for adult onset of Pompe disease. This case will explore further ways to diagnose adult-onset Pompe disease.

Keywords: Late-onset Pompe disease; acid α-glucosidase; cerebral stroke; enzyme replacement therapy.