Table 1 Clinical findings of galactosialidosis patients
From: Galactosialidosis: review and analysis of CTSA gene mutations
Patient | 1 | 2 | 3 | 4 |
|---|---|---|---|---|
Ethnic Origin | Caucasian | Caucasian | Caucasian | Caucasian |
Sex | F | M | M | M |
Clinical Phenotype | EI | EI | EI | EI |
Age at Onset | perinatal | perinatal | perinatal | perinatal |
Fetal hydrops | + | - | + | - |
Edema | + | - | + | + (1 month of age) |
Presentation | fetal hydrops, developmental delay | failure to thrive since birth | fetal hydrops | respiratory distress, inguinal hernia, telangectasias, equinovarus feet, arthrogryposis, gingival hypertrophy |
Age at diagnosis | 4 m | 17 m | 1 m | post-mortem |
Psychomotor delay | + | + | + | + |
Hypotonia | + | - | + | + |
Course facies | + | + | + | + |
Eye | lens clouding | - | - | hypopigmentated fundus |
Hepatosplenomegaly | + | + | + | - |
Cardiac involvement | + | - | + | + |
Skeletal involvement | - | + | - | + |
Renal involvement | - | no | no | no |
Seizures | no | no | no | no |
Muscle involvement | no | no | no | no |
Brain MRI | - | - | enlarged ventricles, hyperintense white matter | striato thalamic vasculopathy, widened periencephalic spaces |
GLB1 activity (nmol/mg/h) | 27 (NV 391-2397) on fibroblasts | 61 (NV 391-2397) on fibroblasts | 143 (NV 400-1100) on fibroblasts; 12 (NV 90-250) on leukocytes | 44,1 (NV 291-525) on fibroblasts |
NEU1 activity (nmol/mg/h) | 0,1 (NV 5,1-48) on fibroblasts | 0,76 (NV 5,1-48) on fibroblasts | 0 on fibroblasts (NV 17- 68) and leukocytes (NV 0,37- 3) | 2,4 (NV 66-197) on fibroblasts |
Other | - | - | dysphagia telangectasias, inguinal hernia, recurrent pleural effusion and ascites, clubfeet | failure to thrive, frequent vomiting, ascites, hypertelorism, thrombocytopenia |
Alive (age) | deceased | deceased | deceased at 3 m | deceased at 4 m, 22d |
CTSA molecular analysis | c.448C > A (p.Val150Met)/c.1216C > T (p.Gln406*) | c.775 T > C (p.Cys259Arg)/c.775 T > C (p.Cys259Arg) | c.114delG/c.347A > G (p.His116Arg) | c.114delG/c.114delG |