Table 1.
The clinical signs on referral along with the results of the biochemical investigations and DNA studies
| Patient | Sex | Age of onset | Age at diagnosis | Symptoms on referral | GALC activity (fluorescent substrate; nmol/mg protein/h) normal: 0.4–3.8 units | GALC activity (radioactive substrate; nmol/mg protein/h) normal: 0.1–0.97 units | Chitotriosidase activity (nmol/ml/h) normal: 0–150 units | Genetic variations: mutations/polymorphisms |
|---|---|---|---|---|---|---|---|---|
| 1 | F | 6 months | 9 months | Psychomotor regression, muscular hypertonia, myoclonic jerks, irritability, megalencephaly, ↑CSF protein level | – | 0.0 | 434 | c.1161+6532_polyA+9kbdel/c.1161+6532_polyA+9kbdel hom p.R184C(c.550C>T) |
| 2 | M | Unknown | 4 months | Seizures, irritability, feeding difficulties ↑CSF protein level |
– | 0.03 | 23 | – |
| 3 | F | 6 months | 10 months | Psychomotor retardation, axial hypotonia, ↑CSF protein level | – | 0.0 | – | – |
| 4 | M | 6 months | 8 months | Psychomotor regression, hypotonia, ↑CSF protein level, normal brain CT scan | – | 0.0 | 34 | – |
| 5 | M | 5 months | 5.5 months | Psychomotor retardation, cerebral palsy, hypertonia, ↑CSF protein level, normal brain CT scan | – | 0.0 | – | – |
| 6 | M | 26 months | 26.5 months | Spastic tetraplegia, loss of vision, abnormal MRI | – | 0.04 | 0.0 | – |
| 7 | M | 3 years 1 month | 3 years 5 months | Psychomotor regression, speech, walking and vision impairment, abnormal MRI | – | 0.01 | 800 | – |
| 8 | M | 3 months | 6.5 months | Infantile seizures, irritability, hypotonia, megalencephaly, psychomotor retardation, loss of vision, abnormal MRI | – | 0.03 | 75 | p.I250T (c.749T>C)/p.I250T (c.749T>C) |
| 9 | F | 4.5 months | 6.5 months | Irritability, hypertonia, opisthotonus, loss of vision, abnormal MRI | – | 0.03 | 398 | p.I250T (c.749T>C)/p.I250T (c.749T>C) |
| 10 | M | Unknown | 10 months | Psychomotor retardation, hypertonia, ↑CSF protein level, abnormal MRI | – | 0.05 | 276 | p.I250T (c.749T>C)/c. 583-1G>Ca
het p.I562T (c.1685T>C) |
| 11 | M | 5 months | 7 months | Irritability, regression, feeding difficulties ↑CSF protein level, abnormal MRI, CT scan, NCV |
– | 0.04 | 404 | p. W132X (c.396G>A)a/p. W132X (c.396G>A)a |
| 12 | M | 6 months | 8 months | Psychomotor retardation, hyperpyrexia, spastic tetraplegia, ↑ CSF protein peripheral hypertonia, abnormal MRI | – | 0.0 | 994 | c.1161+6532_polyA+9kbdel /p.D187V (c.560A>T) het p. R184C (c.550C>T) |
| 13 | F | 4 months | 11 months | Regression, mild axial hypotonia, hypertonia of the extremities, opisthotonus, ↑ CSF protein, abnormal MRI | – | 0.0 | 380 | p.I250T (c.749T>C)/p.I250T (c.749T>C) |
| 14 | M | 6 months | 1.5 years | Psychomotor regression, abnormal MRI, abnormal NCVs | – | 0.0 | 217 | p.I250T (c.749T>C)/p.I250T (c.749T>C) |
| 15 | M | 7 years | 37 years | Spastic paraparesis, optic atrophy, demyelinating peripheral neuropathy, abnormal MRI | 0.0 | 0.015 | 11 | p. D610A (c.1829A>C)a/p. K139del (c.411-413delTAA) |
| 16 | F | Unknown | 42 years | Abnormal MRI, behavioral problems | 0.0 | 0.01 | 33 | p. D610A (c.1829A>C)a/p. K139del (c.411-413delTAA) |
| 17 | M | 3.5 months | 6 months | Generalized hypertonia, developmental delay, abnormal MRI, decreased NCVs | 0.0 | 0.003 | 1,556 | p. K139del (c.411-413delTAA)/p. K139del(c.411-413delTAA) |
| 18 | M | Neonatal period | 12 months | Psychomotor retardation, infantile seizures, ↑ CSF protein level, abnormal MRI | 0.0 | 0.0 | 209 | p. I250T (c.749T>C) c.1161+6532_polyA+9kbdel het p. R184 C (c.550C>T) |
| 19 | M | 3 months | 5 months | Psychomotor retardation, regression, hypotonia, seizures, abnormal MRI | 0.0 | 0.007 | 653 |
c.1161+6532_polyA+9kbdel/unknown het p. R184C (c. 550C >T) hem p. I562T (c. 1685T>C) |
aNovel mutation
↑increased
NCV nerve conduction velocity. Patients 8 and 9 and 15 and 16 are siblings