Affiliations 

  • 1 Sarawak General Hospital
  • 2 University of Malaya
  • 3 Universiti Malaysia Sarawak
MyJurnal

Abstract

An eight-year-old Chinese girl presented with a slowly progressive generalized muscle weakness and wasting, complicated by respiratory failure. She had many hospital admissions requiring ventilator support. Eventually tracheostomy tube was inserted. Initial investigations failed to elicit a diagnosis but a muscle biopsy and histological study confirmed the diagnosis of juvenile acid maltase deficiency.