Table II.
Clinical features of 23 previously reported cases and the present case with pontocerebellar hypoplasia type 6.
| Patient | ||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Characteristics | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 | Present case |
| Study reference | (1) | (2) | (2) | (2) | (3) | (4) | (5) | (5) | (6) | (6) | (6) | (6) | (6) | (7) | (7) | (8) | (8) | (9) | (9) | (10) | (10) | (11) | (11) | – |
| Basic characteristics | ||||||||||||||||||||||||
| Sex | F | F | M | F | F | – | F | M | M | M | F | F | M | F | F | M | F | F | M | M | F | M | M | M |
| Small for gestational age | N | N | – | N | N | – | N | N | Y | Y | N | Y | N | N | N | N | N | N | N | N | N | N | N | Y |
| Symptoms | ||||||||||||||||||||||||
| Age at disease onset | 16 h | 1 d | 19 h | 3 w | 19 h | birth | 2-3 w | 1 d | 1 d | 1 d | birth | 11 d | 20 d | birth | birth | 9 m | 6 m | 2 m | 3 m | 1 d | 2 d | 40 h | 8 w | 3 m |
| Initial symptoms | Hy, | Hy, | Ta, | Hy, | Ta, | Hy, | Se | Se | En | Hy, | Hyp | Se | Hy, Se | Hy, | Hy, | Hy, | Hy | Se | Se | En | Ta | Hyp | Se | Se |
| En | Po | Po | En, Po | Po | En | En | Cy | Cy | Se | |||||||||||||||
| Epilepsy | Y | Y | – | Y | Y | – | Y | Y | Y | Y | Y | Y | Y | – | – | Y | N | Y | Y | Y | – | Y | Y | Y |
| Age of seizures onset | 4 w | 2 m | – | 4 m | 36 h | – | 2-3 w | 1 d | 11 d | 4 m | 20 d | 11 d | 20 d | – | – | 9 m | N | 2 m | 3 m | 3 m | – | 5 w | 8 w | 3 m |
| Feeding difficulties | Y | Y | Y | Y | Y | Y | N | N | Y | Y | Y | Y | Y | – | – | Y | N | – | – | – | N | Y | Y | Y |
| Development delay | Y | Y | Y | Y | Y | – | Y | Y | Y | Y | Y | Y | Y | – | – | Y | Y | Y | Y | Y | – | Y | Y | Y |
| Hearing loss | Y | – | – | – | – | – | N | N | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | Y |
| Optic atrophy | Y | – | – | – | N | N | N | N | – | – | – | – | – | – | N | Y | Y | – | – | N | – | – | – | N |
| Signs | ||||||||||||||||||||||||
| Hypotonia | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | N | Y | Y | Y | Y | Y | – | Y | Y | N | N | Y | Y |
| Microcephaly | Y | Y | – | N | Y | – | Y | Y | Y | Y | Y | Y | Y | – | – | Y | Y | Y | – | Y | N | Y | Y | Y |
| Biochemical test | ||||||||||||||||||||||||
| Hyperlactacidemia | Y | N | Y | N | Y | – | N | Y | Y | Y | Y | Y | Y | – | Y | – | – | – | – | Y | Y | Y | N | Y |
| Elevated lactic level in CSF | Y | – | – | Y | Y | Y | Y | – | Y | Y | Y | – | N | – | Y | – | – | – | – | N | – | N | N | N |
| Brain MRI findings | ||||||||||||||||||||||||
| Pontocerebellar atrophy | Y | – | Y | Y | Y | – | Y | Y | Y | Y | Y | Y | Y | – | Y | Y | Y | N | N | N | N | Y | Y | N |
| Subdural effusions | N | N | – | N | N | – | Y | N | N | N | N | N | N | – | N | N | N | N | N | N | N | N | N | Y |
| Basal ganglia involvement | N | N | – | N | N | – | N | N | N | N | N | N | N | – | N | N | N | N | N | N | N | N | N | Y |
Unavailable data are demonstrated by hyphens. When referring to the age of patients, the following abbreviations were used: d, days; w, weeks; m, months. F, female; M, male; N, no; Y, yes; MRI, magnetic resonance imaging; CSF, cerebrospinal fluid; Hy, hypotonia; En, encephalopathy; Se, seizure; Hyp, hypoglycemia; Cy, cyanotic; Ta, tachypnea; Po, poor feeding; small for gestational age, birth weight <10 percentile of the same gestational age.