Table 2 Summary of cases with late-onset mild ISOD
Reference | Case 1 | Case 2 | Case 3 | Shih VE et al., 1977 [7] | Van der Klei-Van et al., 1991 [13] | Barbot et al., 1995 [8] | TouatiG et al., 2000 [9] | TouatiG et al., 2000 [9] | Del RizzoM et al., 2013 [10] | Rocha et al.,2014 [11] |
|---|---|---|---|---|---|---|---|---|---|---|
Age of onset/sex | 12 months /male | 14 months /female | 16 months /male | 17 months /male | 11 months /male | 3 months /female | 15 months /male | 8 months /female | 12 months /female | 12 months /female |
Perinatal period/ family history | Normal/ unremarkable | Normal/ unremarkable | Normal/ unremarkable | Normal/ unremarkable | Normal/ unremarkable | Normal/ unremarkable | Normal/ unremarkable | Normal/ a elder sister with ISOD | Normal/ unremarkable | Normal/ unremarkable |
Age in report (year) | 9.5 | 5.5 | 4.5 | 6.5 | 1 | 7 | 4 years and 5mon | 3 years and 2mon | 2 years and 6 mon | 4 |
Clinical features | Rapid regression of acquired motor skills and cognition, dystonia | Poor response and experienced one generalized brief seizure, dystonia | Regression of motor and mental skills and choreoathetoid movements, dystonia | Psychomotor retardation, choreiform movement of right side of body | Psychomotor retardation,choreiform movement | Choreoathetoid movements, lost transiently headcontrol | Choreoathetoid movements, inability to walk, hyperkinesia | Slight motor delay, moderate axial hypotonia | Psychomotor retardation,acute left hemiparesis, generalized mild hypotonia | Psychomotor retardation,trunk and gait ataxia, generalized hypotonia |
Ectopialentis (year) | No ectopialentis (9.5) | No ectopialentis (5.5) | No ectopialentis (4.5) | Yes (4) | NA | No ectopialentis (7) | No ectopialentis (4 years and 5 months old) | Yes (8 months) | NA | Yes (3 years and 10 months) |
Laboratory finding | ||||||||||
Urine sulfite test (normal values) | 45, 50 (< 15) | 30, 40 (< 15) | 25, 100 (< 15) | 13.8(ND) | 12(ND) | P (negative) | P (negative) | P (negative) | 30(ND) | P (negative) |
S-sulfocysteine plasma/urine (normal values) | No | No | No | 26 (0)/NA | 24(ND)/1.7 (0–0.2) | 20 (0)/220 (0) | stronglyelevated | 20 (0)/NA | 28 (0)/313 (0) | 141(0–0.1)/NA |
Plasma total homocysteine | 3.74 (normal 5–15) | 3.17 (normal 5–15) | 2.48, 2.66 (normal 5–15) | NA | NA | NA | NA | NA | < 1(normal> 4) | 0.6 (normal> 4) |
Uric acid (μmol/L) | Normal | Normal | Normal | NA | 175(normal) | Normal | 148 (normal) | 220 (normal) | NA | NA |
Sulfite oxidase activity | No | No | No | No activity was detected | Totally absent | Completely absent | ND | ND | ND | ND |
Neuroimaging findings | MRI, hyperintense signal of bilateral globus pallidi, and substantia nigra | MRI, hyperintense signal of bilateral globus pallidi, and substantia nigra | MRI, hyperintense signal of bilateral globus pallidi, and substantia nigra | NA | Head computed tomography, no abnormalities | MRI, symmetrical involvement of the globus pallidus, cerebello medullary enlarged | MRI, hypodensity of the white matter and frontal lobes | NA | MRI, mild cerebral atrophy and asymmetric stroke-like lesions of the globus pallidus | MRI, hyperintense signal of bilateral globus pallidi, together with cerebral peduncle involvement |
Gene test results | ||||||||||
Nucleotide, protein | c.1096C > T, p.R366C; c.1376G > A, p.R459Q | c.1096C > T, p.R366C; c.1376G > A, p.R459Q | c.1096C > T, p.R366C; c.1376G > A, p.R459Q | No | No | No | No | No | c.427C > A, p.H143N | c.182 T > C; p.L61P |
Domain | Homodimerization and Moco domain | Homodimerization and Moco domain | Homodimerization and Moco domain | No | No | No | No | No | Homodimerization | Transit peptide |
Dietary treatment (duration) | No | No | No | Yes (5 years) | NA | Yes (2 weeks) | Yes (2 years) | Yes (2 years) | Yes(18 months) | Low protein diet (NA) |
Outcomes | His performance in school was normal. He had unsteady gait follow up till age of 9.5 | She could walk several steps without support with an unsteady gait. Her vocabulary was normal follow up till age of 5.5 | He could only speak a few words but had good language comprehension follow up till age of 4.5 | Improvement in biochemical and clinical results | NA | Slowly progressive neurology disorder with ataxic gait, dystonia, and choreoathetoid movements | Became much more calm and less aggressive, and started to talk | Progressing well. She walked alone at 21 months, and started to speakat 2 years | Biochemicalimprovement was observed with progressive clinical amelioration | Slight truncal ataxia. No further episodes were observed over the next thirteen months |