<Case Reports>A case of glycogenosis type II (childhood type) showing CO_2 narcosis on admission

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  • <症例>CO_2ナルコーシスに陥った糖原病II型(若年型)の1例

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Abstract

The patient was a 15-year-old female. Since about eight years of age, she noticed difficulty in climbing stairs. She was diagnosed as having a limb-girdle type of muscular dystrophy and was treated at a certain outpatient clinic. At 15 years of age, dyspnea appeared, and she was treated with oxygen inhalation at a local hospital, which resulted in CO_2 narcosis, with coma ensuing. On physical examination, severe scoliosis and generalized muscular atrophy, particularly in the proximal limb muscles, were detected. The serum GOT, GPT, LDH and CPK levels were elevated, and electromyographic evaluation revealed low muscle action potentials, in general. Quadriceps muscle biopsy revealed an increase in fiber size and extensive vacuolization. Some vacuoles contained homogenous materials with eosinophilic granules stained by PAS. The acid-alpha-glucosidase activities in peripheral blood lymphocytes and cultured skin fibroblasts were markedly deficient. Based on these findings, a childhood type of glycogenosis type II was diagnosed. As seen in the present case, inadequate administration in the oxygen therapy for the treatment of dyspnea in the presence of hypoventilation induced by dystrophic respiratory muscles may cause CO_2 narcosis. Due care should therefore be taken in the oxygen therapy.

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