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Table 1 Clinical and neuroradiological features of 21 patients with "congenital ocular motor apraxia type Cogan" (COMA)

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

  1. Abbreviations: A Albanian origin, CH Swiss origin, D German origin, K Kazakh origin, R Russian origin, T Turkish origin, UK British origin, m male, f female, ↓ attenuating, ↔ unchanged, MTS molar tooth sign, JBTS Joubert syndrome, a half-siblings