Hideo Morita

Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome

In a male infant who had cardiomyopathy, generalized muscle weakness and increased serum creatine kinase levels, his muscle biopsy revealed myopathic changes with tiny intracytoplasmic vacuoles containing PAS-positive material and high acid phosphatase activity, but had normal acid maltase activity biochemically. These findings were consistent with those seen in lysosomal glycogen storage disease with normal acid maltase (Danon disease). Sarcolemmal indentations commonly seen in this disease were missing, but a complement membrane attack complex, C5b-9 was positive along the surface membrane of the muscle fibers as seen in X-linked vacuolar myopathy. The patient was on a respirator and died at 27 months of age from pneumonia and hypertrophic cardiomyopathy. Lysosomal glycogen storage disease with normal acid maltase may be manifested at birth with marked skeletal and cardiac involvement leading to death in early infancy.

β‐Thalassemia with the IVS‐l‐1 (G → T) mutation in a Japanese girl

We analyzed the hemoglobins of a Japanese girl with β‐thalassemia and those of her immediate family. DNA sequencing of the cloned β‐globin gene from this patient revealed a point mutation at the IVS‐I position 1 (G → T). This rare point mutation has been found in Asian Indians, but this is the first reported Japanese case.