|
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
|
