Table 1 Patient characteristics and peroxisomal test results
Patient | Disease severity | Genotype mutations, cDNA | % C16:0DMA/C16:0♦ (normal 6.8–11.9) | % C18:0DMA/C18:0 ♦ (normal 10.6–24.9) | Phytanic acid♦ (normal <10 umol/l) | Age (mo) cataract extraction | Best developmental performance | Ages (mo) at MRI and findings | Remarks |
|---|---|---|---|---|---|---|---|---|---|
1 | Severe | PEX 7:c [875 T > A]; [875 T > A] | nd | nd | 10 | 7 | Smiles responsively, no intentional movement, gastrostomy fed | 24: Wide extra cerebral liquor spaces; ventricular enlargement; cerebellar atrophy; abnormal white matter signal intensity. | Ref [6] pt 1 |
† 4 yrs 11/12 | |||||||||
2 | Severe | PEX 7:c [875 T > A]; [875 T > A] | 1.2 | 0.5 | 6.4 | 3 | Smiles responsively, spontaneous movement of fingers, bottle/spoon fed | 23 and 48: Delayed myelination, abnormal white matter signal intensity; cerebellar atrophy. Cervical stenosis. | Ref [6] pt 2. |
3 | Severe | PEX 7:c [875 T > A]; [875 T > A] | 0 | 0 | 12.4 | 3 | Smiles responsively, turns from back to belly, gastrostomy fed | 10, 22 and 60: Delayed myelination; abnormal white matter signal intensity; progressive cerebellar atrophy. Narrow cervical canal. | Ref [6] pt 3. |
4 | Severe | PEX 7:c [875 T > A]; [875 T > A] | 0.2 | 0.2 | 4.4 | 3 | Smiles responsively, no intentional movement, gastrostomy fed | 2 and 16: Delayed myelination; abnormal white signal intensity; cerebellar atrophy; progressive ventricular enlargement. Progressive narrowing thoracic spinal canal. | Ref [6] pt 5. |
† 1 yr 5/12 | |||||||||
5 | Severe | PEX 7:c [875 T > A];? | 1.6 | 2.9 | 25.2 | 5 | Smiles responsively, vocalizes, spontaneous movement of fingers, gastrostomy fed | 10, 27 and 48: Delayed myelination; abnormal white signal intensity; cerebellar atrophy; progressive ventricular enlargement. Cervical stenosis. | Ref [6] pt 4. |
6 | Severe | PEX 7:c [875 T > A]; [875 T > A] | 0.6 | 0.2 | 9.1 | 3 | Smiles responsively, vocalizes, no intentional movement, bottle/spoon/gastrostomy fed | 3 and 14: Ventricular enlargement; frontal hygroma; delayed myelination; abnormal white matter signal intensity; cerebellar atrophy. Cervical canal stenosis. | Ref [6] pt 8 |
† 3 yrs 8/12 | |||||||||
7 | Severe | PEX 7:c [875 T > A]; [875 T > A] | 0.2 | 0.1 | 6.2 | 35 | Eye contact, No intentional movement, gastrostomy fed | 1 week. Wide fissura Silvii, no other abnormalities. | |
8 | Severe | PEX 7:c [875 T > A]; [649G > A] | 0.2 | 0.4 | 7 | 5 | Smiles responsively, vocalizes, scarce spontaneous movement, gastrostomy fed | Not performed. | † 3 yrs 2/12 |
9 | Severe | PEX 7:c [875 T > A]; [875 T > A] | 1.7 | 1.4 | 25.3 | 11 | Smiles responsively, no intentional movement, primarily tube fed | 9 and 21: Delayed myelination; abnormal white matter signal intensity; ventricular enlargement; progressive cerebellar atrophy. Relatively narrow cervical canal. | † 2 yrs 7/12 |
10 | Severe | PEX 7:c [875 T > A]; [875 T > A] | 2.1 | 1.0 | 15 | 6 | Responds to sounds, no intentional movement, primarly fed by gastrostomy | Not performed. | † 6 yrs 5/12 |
11 | Severe | PEX 7:c [875 T > A]; [875 T > A] | 0 | 0 | 3.4 | Not performed | Smiles responsively, scarce spontaneous movement, primarily tube fed | 4: Delayed myelination; wide extra cerebral liquor spaces. | Ref [6] pt 6 |
† 7/12 | |||||||||
12 | Severe | DHAPAT:c [924 + 5G > C]; [924 + 5G > C] | 0.3 | 1.2 | 1.0 | Infancy | No intentional movement, gastric tube fed | Not performed. | |
13 | Mild | PEX 7:c [875 T > A];/[854A > G] | 5.2 | 12.1 | 158.7 | 4 | IQ < 50, walks short distances independently | 84: Normal findings. | Ref [6] pt 11 |
Diagnosis at age 4 yrs | |||||||||
14* | Mild | PEX 7:c [854A > G]; [854A > G] | 2.4 | 6.5 | 154.1 | 5 | IQ < 50, rides a tricycle | 90: Normal findings. | Diagnosis at age 6 yrs |
15 | Mild | PEX 7:c [875 T > A];/? | 4 | 8.5 | 8.9 | 24 | Autistic features, IQ < 50, walks short distances independently | 252: Normal findings. | Ref [6] pt 9 |
Diagnosis at age 9 yrs | |||||||||
16 | Mild | PEX 7:c [875 T > A];/[854A > G] | 4.2 | 6.8 | 1672 | 8 | Walks short distances unsupported, rides a tricycle, verbal communication, (un)dresses herself | 252: Normal findings supratentorial; narrow foramen magnum. | Ref [6] pt 10 |
Ref [4] | |||||||||
Diagnosis at age 9 yrs |