Agenesis of the corpus callosum combined with cerebral abnormalities: Clinical and diagnostic features

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Abstract

Background. Agenesis of the corpus callosum (ACC) is the total or partial absence of CC, one of the most common congenital brain malformations, with an incidence rate of 1.4 cases per 10,000 live births.

Aim. To describe the clinical and diagnostic features of 4 patients with ACC.

Materials and methods. Four patients with ACC aged 11, 12, 13, and 50 years were managed, of whom 3 were males, and 1 was a 13-year-old girl. All patients underwent a neurological examination, which assessed cognitive and mental disorders and electroencephalography. Patients underwent magnetic resonance imaging (MRI) in standard modes using a magnetic resonance imaging scanner with a magnetic field intensity of 1.5 T to detect damage to the brain's anatomical structure.

Results. The disease was asymptomatic in 2 patients (a 50-year-old man and a 12-year-old boy). In the other 2 cases, there was an apparent neurological and cognitive deficit. The boy's parents and grandparents died of chronic alcoholism at the age of 11. During a neurological examination, he showed signs of damage to the pyramidal tract, as well as pronounced cognitive impairment with profound mental retardation, including delayed psycho-speech development. The 13-year-old girl suffers from severe mental retardation with speech impairment. In both cases, ACC was associated with epilepsy with a seizure frequency ranging from 6 times a year in the girl and up to 15 times a month in the boy. The gross neurological and cognitive deficits cause social difficulties since such patients need rehabilitation and ongoing care. In all cases, the diagnosis of ACC is based on the results of brain MRI, which is the method of choice. MRI enables assessment of the CC anatomical structure and the presence of other brain abnormalities. Complete agenesis was established in 3 cases, including a girl, and in one patient – a 12-year-old boy – partial agenesis with intact splenium was detected. In all patients, agenesis was combined with brain congenital malformations, namely with the absence of the septum pellucidum, interhemispheric and porencephalic cyst, basilar invagination, and venous malformation of the frontal lobe.

Conclusion. ACC is a rare congenital brain malformation. According to the data, agenesis is more common in males. Complete ACC was diagnosed in 3 patients and partial ACC in 1. Risk factors include maternal alcohol consumption during pregnancy. The clinical presentation is diverse: from an asymptomatic course to severe cognitive impairment with severe and profound mental retardation, epilepsy, and autistic disorders with neurological deficits, including damage to the pyramidal tract. The primary diagnostic method is MRI, which detects anatomical changes in CC and other brain structures.

About the authors

Nikolai A. Ognerubov

Russian Medical Academy of Continuous Professional Education

Author for correspondence.
Email: ognerubov_n.a@mail.ru
ORCID iD: 0000-0003-4045-1247
SPIN-code: 3576-3592

D. Sci. (Med.), D. Sci. (Jur.), Prof.

Russian Federation, Moscow

Tatiana S. Antipova

Federal Network of Nuclear Medicine Centers "PET-Technology"

Email: ognerubov_n.a@mail.ru
ORCID iD: 0000-0003-4165-8397

radiologist

Russian Federation, Moscow

Olga O. Mirsalimova

Federal Network of Nuclear Medicine Centers "PET-Technology"

Email: ognerubov_n.a@mail.ru
ORCID iD: 0009-0007-8600-7586

radiologist

Russian Federation, Moscow

Mikhail A. Zemur

PET-Technology Oncoradiology Center

Email: ognerubov_n.a@mail.ru
ORCID iD: 0009-0003-6492-7008

radiologist

Russian Federation, Podolsk

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2. Fig. 1. Patient F., 11 years old. MRI of the brain: a – T1-weighted sequential image in the sagittal plane: complete absence of CM (blue arrow); abnormal cingulate gyrus (red arrow); porencephalic cyst (green arrow); Bogart angle of 140° (black lines); b – T2-weighted sequential image in the axial plane: interhemispheric meningeal cyst (blue arrows); septum of the interhemispheric meningeal cyst (green arrow); porencephalic cyst (orange arrow); c – T2-weighted sequential image in the axial plane: sizes of the cerebral hemispheres at the level of the third ventricle, on the right – 73 mm, on the left – 67 mm – the largest dimension (yellow arrows), body of the third ventricle (blue arrow); d – T2-weighted sequential image in the coronal plane: interhemispheric meningeal cyst (blue arrow); porencephalic cyst (red arrow); vertically located anterior horns of the lateral ventricles of the brain – the “Viking helmet” sign (yellow arrows); e – T1-weighted sequential image in the coronal plane: interhemispheric meningeal cyst (blue arrow); lateral ventricles of the brain (green arrows); asymmetry of the cerebral hemispheres (yellow arrows).

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3. Fig. 2. Patient B., 12 years old. MRI of the brain: a – T1-weighted sequential image: in the sagittal plane: absence of ventral sections of the cingulate cortex (red arrow); splenium (CT) and ribbon gyrus (yellow arrow); widening of the roof of the third ventricle (blue arrow); abnormal cingulate gyrus (green arrow); b – T2-weighted sequential image in the coronal plane: “Viking helmet” sign – the cingulate gyrus is inverted in the form of narrowed and elongated frontal horns.

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4. Fig. 3. Patient B., 12 years old. MRI of the brain: T2-weighted sequential image in the axial plane: the “racing car” sign – widened distance between the lateral ventricles (red arrows); myelinated Probst bundles are located medial to the lateral ventricles (yellow arrows).

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5. Fig. 4. Patient K., 13 years old. MRI of the brain: a – T1-weighted sequential image in the sagittal plane: complete absence of CM (blue arrow); widening of the roof of the third ventricle (red arrow); abnormal cingulate gyrus (yellow arrow); b – T2-weighted sequential image in the coronal plane. The “Viking helmet” sign – the cingulate gyrus is everted in the form of narrowed and elongated frontal horns (blue arrows); c – T2-weighted sequential image in the axial plane: the “racing car” sign – widened lateral ventricles, the right one – up to 35 mm, the left one – up to 25 mm (yellow arrows).

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6. Fig. 5. Patient P., 50 years old. MRI of the brain: a – T1-weighted sequential image in the sagittal plane: complete absence of MC (white arrow); widening of the roof of the third ventricle (red arrow); abnormal cingulate gyrus (yellow arrow); inferior sagittal sinus (green arrow); b – T2-weighted sequential image in the coronal plane: the “Viking helmet” sign – the cingulate gyrus is everted in the form of narrowed and elongated frontal horns (yellow arrows); c – T2-weighted sequential image in the axial plane. The lateral ventricles of the brain are widened due to the posterior horns: on the right – 15 mm, on the left – up to 21 mm (blue arrows); the third ventricle is widened to 13 mm – the “racing car” sign (pink arrows); d – T1-weighted sequential image in the coronal plane with contrast. A venous anomaly of the frontal lobe development in the form of a malformation is noted (green arrow).

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