From: Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study
Patient # (origin) | Sex | Current age (years) | Affected/unaffected siblings | Development | Neurological findings | MRI features | Diagnostic assignment | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Unaided walking at age (months) | Speech delay | Ocular apraxia [age at onset (months)/course/age at disappearance] | Early onset ataxia | Cognitive development | Seizures | ||||||
1 (A) | f | 4 | 0/1 | 18 | Yes | 3/↓/- | Yes | Learning disability | No | MTS, vermian hypo-/dysplasia | JBTS |
2 (D) | m | 7 | 0/0 | 27 | Yes | 8/↓/- | Yes | Learning disability | No | MTS, superior vermian hypoplasia, slightly enlarged external csf spaces | JBTS |
3 (D) | f | 12 | 0 / 1 | 20 | No | 3/↓/- | No | Normal | No | Normal | COMA |
4 (D) | m | 18 | 0/1 | 30 | Yes | 3/↓/- | Yes | Learning disability | No | MTS, superior vermian dysplasia | JBTS |
5 (TR) | f | 5 | 0/2 | 30 | Yes | 4/↓/- | Yes | Intellectual disability | No | MTS, superior vermian hypo-/dysplasia | JBTS |
6 (D) | f | 4 | 0/1 | 27 | No | 6/↓/- | Yes | Normal | Yes | vermian dysplasia, otherwise normal | COMA |
7 (TR) | m | 18 | 0/1 | 20 | Yes | 6/↔/- | Yes | Normal | No | Cerebellar cysts, cerebellar hypoplasia, square 4th ventricle | Poretti-Boltshauser syndrome |
8 (D) | m | 24 | 1 (#9)/1 | 24 | Yes | 6/↓/4 years | Yes | Intellectual disability | No | MTS, vermian hypo-/dysplasia | JBTS |
9 (D) | f | 21 | 1 (#8)/1 | 14 | Yes | 11/↓/5 years | Yes | Learning disability | No | MTS, otherwise normal | JBTS |
10 (T) | m | 9 | 0/3 | 24 | Yes | 6/↓/- | Yes | Learning disability | Yes | Inferior vermian dysplasia, large cerebellum, slight caudal extension of cerebellar tonsils | COMA |
11 (D) | m | 16 | 0/3a | 27 | Yes | 2/↓/- | No | Normal | No | Normal | COMA |
12 (D) | f | 6 | 0/0 | 20 | Yes | 10/↓/- | Yes | Normal | No | Normal | COMA |
13 (D/UK) | m | 2 | 0/2a | 27 | No | 8/↓/- | Yes | Normal | No | MTS, otherwise normal (mild superior vermian hypo-/dysplasia??) | JBTS |
14 (CH) | m | 7 | 0/1 | 24 | Yes | 6/↓/- | Yes | Normal | No | mild vermian dysplasia, otherwise normal | COMA |
15 (D) | m | 6 | 0/2 | 30 | Yes | 8/↓/- | Yes | Intellectual disability | No | MTS, superior vermian dysplasia | JBTS |
16 (D) | m | 22 | 1 (#17)/1 | 30 | Yes | 6/↓/- | Yes | Normal | Yes | MTS, vermian hypo-/dysplasia | JBTS |
17 (D) | m | 17 | 1 (#16)/1 | 42 | Yes | 3/↓/- | Yes | Low normal | No | MTS, superior vermian hypo-/dysplasia | JBTS |
18 (D) | f | 23 | 0/1 | 24 | No | 4/↓/- | Yes | Learning disability | No | Normal | COMA |
19 (D) | f | 6 | 0/1 + 1a | 14 | No | 6/↓/- | No | Normal | No | Superior vermian dysplasia, otherwise normal | COMA |
20 (R/K) | m | 10 | 0/1 + 1a | 48 | Yes | 5/↓/- | Yes | Intellectual disability | No | Enlarged ventricles, dysmorphic basal ganglia, hypoplastic corpus callosum, abnormal proportions of brain stem | Brain malformation suspicious of tubulinopathy |
21 (D) | m | 6 | 0/1 | 36 | Yes | 8/↓/- | Yes | Learning disability | No | MTS, callosal agenesis, vermian hypo-/dysplasia, hippocampal malrotation, dysplastic tectal plate | JBTS |