Abstract
The severity of intellectual sequelae and prognosis varies in patients with congenital
ocular motor apraxia (COMA). Here, we explored this phenomenon with regard to the
accompanying oculomotor signs and gross motor development, as well as the subtentorial
structure defects. Ten patients diagnosed with COMA (M:F = 4:6, 4–37 years old) were reviewed. Four individuals who gained the ability to walk
at 2 years or earlier showed normal intellect and social skills. Those who walked
later often showed accompanying intellectual (5/6) and speech (6/6) disabilities.
In this latter group, atypical oculomotor signs for COMA (presence of nystagmus, mild
limitation of vertical gaze, slower head thrust, and marked improvement of lateral
saccade during early childhood) were often noted (4/6). Minor anomalies of fingers
and toes were also common in this group. Neuroimaging was conduced in nine patients
(pneumoencepharography 1; computed tomography: 8, magnetic resonance imaging: 2).
Dilatation of the fourth ventricle, mainly at the level of the midbrain or upper pons
(n = 7), and hypoplastic cerebellar vermis (n = 6) were commonly observed in both the early- and late-walking groups. ‘Molar tooth’
signs (n = 3) were exclusively noted in the late-walking group, and often accompanied by atypical
oculomotor signs (3/3) and intellectual disabilities (2/3). Vermian hypoplasia and
dilatation of the fourth ventricle at the upper brainstem level in COMA patients,
with or without intellectual disabilities, suggested that the cardinal lesion for
OMA may exist in these areas. The presence of a subset of ‘atypical’ COMA patients
may suggest that COMA with subtle infratentorial abnormality represents a heterogeneous
disease category, showing similar oculomotor disturbance. This review indicated that
clinical and neuroradiological inspection might be valuable for prediction of long-term
intellectual prognosis in COMA patients.
Keywords
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Article info
Publication history
Accepted:
January 3,
2007
Received in revised form:
December 25,
2006
Received:
October 31,
2006
Identification
Copyright
© 2007 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
