Table 1 Clinical and molecular features of two Taiwanese patients with GM1 gangliosidosis
Patient 1 | Patient 2 | |
|---|---|---|
Phenotype | Juvenile | Infantile |
Age of onset | 6 months | Birth |
Age at diagnosis | 18 months | 4 months |
Presentation | Developmental regression, delayed psychomotor development, coarse facial features, macroglossia, abdominal distention, and thick skin with Mongolian spots | Developmental regression, hypotonia, bilateral hydrocele, and visceromegaly |
Eye | Normal | Cherry red spot |
Heart | Normal | Dilated cardiomyopathy, Hypertrophied left atrium/ventricle, and poor contractility of left ventricle |
Skeleton | Scoliosis and beaking of the lumbar vertebral bodies | Normal |
Liver/spleen | Hepatosplenomegaly | Hepatomegaly |
Nervous system | White matter demyelination and cortical atropy | White matter demyelination, cortical atropy, and seizure |
Bone marrow | Foamy histiocytes and progressive leukomalacia | Foamy histiocytes |
Age of death | 2 years, 2 months | 2 years |
β-galactosidase activity | 2% of control value in fibroblast | < 1% of control value in fibroblast |
Genetic defect | ||
Allele 1 | c.304C > G (p.H102 D, inherited from father) | c.495_497delTCT (p.L166del, inherited from mother) |
Allele 2 | c.902C > T (p.A301V, inherited from mother) | c.1481G > T (p.G494V, inherited from father) |
Polymorphisms | p.L10P | p.L10P |