Background:
@EN Despite variable clinical characteristics and prognosis, the majority of cases of agenesis of corpus callosum are associated severe complex brain malformations and psychomotor retardation. We report clinical characteristics that may be of
help
in
the early detection, proper management, and assessment of prognosis of patients.
@ES Method:
@EN We reviewed clinical characteristics of 79 cases of agenesis of corpus callosum confirmed by CT or MRI scans. They visited the Institute for Handicapped Children, as branch of Department of Pediatrics, Yonsei University Medical College, from
January
1980 to February 1996. Of these, 9 cases had been suspected intracranial abnormalities by antenatal sonography and confirmed as agenesis of corpus callosum.
@ES Results:
@EN The age distribution showed 45 cases (57.0%) under 1 year of age, 26 cases (32.9%) from 1 to 5 years of age, 8 cases (10.1%) from 6 to 15 years of age. Sex distribution revealed male to female ratio of 1:1.1. 72 cases (91.1%) showed
psychomotor
retardation. 36 cases (45.6%) had seizures, the most common type being generalized tonic clonic seizures. Cerebral palsy was associated in 10 cases (12.7%). 34 cases (43.0%) revealed abnormal perinatal history : 17 cases had perinatal asphyxia,
11
cases
had low birth weight, 9 cases had prematurity, 7 cases had small for gestational age. Maternal history of genital herpetic infection was associated in one case, which showed partial agenesis of body and splenium. Associated congenital
abnormalities
were
found in 65 cases (82.3%), among which craniofacial abnormalities were most common and others included cardiovascular, skeletal, and genitourinary tract. Intracranial abnormalities detected in CT or MRI scans were found in 47 cases (59.5%),
cerebral
cortical atrophy was the most common finding occurring 17 cases. Others were hydrocephalus, cystic anomalies, and so on. We used the Griffiths mental development scales to asse4ss the developmental status and among them, 74.3%, had severe
retardation
with scores below 55. EEG revealed abnormalities in 87.3%, the most common finding being asymmetricity between two hemispheres, others were slow waves, spikes or sharp waves.
@ES Conclusions:
@EN Because the clinical symptoms and signs of the agenesis of corpus callosum are nonspecific and the etiologic factors are unclear, early detection may be difficult in many cases. But most of the cases have severe complex brain malformations
and
psychomotor retardation which prevents them from pursuing normal social lives. If other congenital abnormalities are associated, the prognosis is relatively poor. So the patients with agenesis of corpus callosum are in need of early detection,
proper
assessment and management. Thus further studies and investigations concerning the etiology and prevention of agenesis of corpus callosum are needed.
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