Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?

Abstract

Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid. This enzyme allows the hydrolysis of lysosomal glycogen. Patients with infantile-onset P.D. (IOPD) exhibit a nearly complete absence of AαGlu activity; moreover, they develop hypotonia and hypertrophic cardiomyopathy during infancy. Patients with IOPD eventually die of cardiorespiratory failure due to the accumulation of massive amounts of glycogen in their skeletal and heart muscles. Case report: T.M. is a 4-month-old female infant, the second of two siblings, hospitalized at the Neonatology and Nutrition Center in Rabat, Morocco, for severe respiratory distress with generalized congenital hypotonia. Conclusion: Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterized by the degeneration of alpha motor neurons within the spinal cord. The disease is linked to a mutation in the survival motor neuron (SMN)1 gene on chromosome 5 (5q13.2), which prevents the synthesis of SMN protein. No case of association has been reported between these two diseases to date. We present a case of Pompe disease associated with spinal muscular atrophy.

Keywords

• smn1
• glycogen storage disease type ii
• neonatal hypotonia