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Jae Wan Yoo1*, Seong Hoon Lim1†, Bo Young Hong1, Joon Sung Kim1, Bo Mi Sul1, Hee Won Lee1, Won Jin Sung1, Jung Jae Lee1 |
Introduction
Formation of the corpus callosum is related to a complex process involving several proteins. Mutations in many genes cause malformations in development of the corpus callosum, which associate with various phenotypes such as language and intellectual disabilities, motor impairment, and epilepsy. We present a familial corpus callosum agenesis case with intellectual disability.
Case report
A 55-year-old female patient went to the emergency room for right side weakness and performed brain Magnetic Resonance Imaging (MRI) on August 5, 2009. MRI findings revealed acute infarction of the left centrum semiovale region. However, the patient showed cognitive deficits that are significantly decreased compared to the location and size of cerebral infarction found on brain MRI. Thus, we suspected that the prominent cognitive deficits were more related to corpus callosum agenesis detected on brain MRI (Fig 1-A). Brain MRI. On the physical examination, Mini Mental Status Examination (MMSE) was checked as 16 points which were degraded in the orientation, registration, recall, and attention and Global Deterioration Scale (GDS) checked as 5 points. The patient could gait independently with monocane. Toileting and bathing could also be performed independently in activities of daily living. Modified Barthel Index Score (MBI) score was checked as 64. On the neurologic examination, dysarthria is revealed but no abnormal findings were found in other examination including electroencephalography (EEG).
Then, during follow-up from the outpatient clinic, the daughter accompanied by the patient and also revealed minimal cognition impairment (MCI). Under suspicion of neurological disorders, further radiographic evaluation was performed to confirm suspected brain lesion (Fig 1-B). MRI findings revealed corpus callosum agenesis, diffuse colpocephalic appearance of both lateral ventricle and possible subarachnoid cyst of both temporal fossa, similar to the findings of her mother. On the physical examination, both upper and lower extremities are checked as normal grade of MMT. On the neurologic examination, MMSE was revealed as 18 points, Montreal Cognitive Assessment (MOCA) as 15 points and Global Deterioration Scale (GDS) as 5 points.
Conclusion
In this case, we report a familial corpus callosum agenesis with minimal cognition impairment in maternal inheritance. Further genetic analyses such as karyotype analysis, array CGH study and DNA sequencing (e.g. for Mutations in DCC) are needed to better investigate the molecular processes leading to corpus callosum agenesis and to achieve proper genetic counselling.
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