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LETTER TO EDITOR
Year : 2010  |  Volume : 5  |  Issue : 1  |  Page : 83-85
 

Agenesis of the corpus callosum


Department of Paediatric Surgery, SAIMS, Indore, India

Date of Web Publication22-Jul-2010

Correspondence Address:
Saurabh Garge
Department of Paediatric Surgery, SAIMS, Indore
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.66662

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How to cite this article:
Singh S, Garge S. Agenesis of the corpus callosum. J Pediatr Neurosci 2010;5:83-5

How to cite this URL:
Singh S, Garge S. Agenesis of the corpus callosum. J Pediatr Neurosci [serial online] 2010 [cited 2019 Apr 24];5:83-5. Available from: http://www.pediatricneurosciences.com/text.asp?2010/5/1/83/66662


Sir,

The corpus callosum is a white matter structure connecting the cerebral hemispheres and is important in coordinating information and bilateral exchange of sensory stimuli. It is derived from the lamina terminalis in the portion of the neural tube cephalic to the rostral neuropore. Until the fourth month of gestation, only the most rostral part of the corpus callosum is formed; the caudal portion develops only after the fifth month. [1],[2] Insults responsible for agenesis of the corpus callosum or varying degrees of hypoplasia of the corpus callosum are not identified. An early failure may lead to complete agenesis, whereas a later one will lead to hypoplasia. [3] There is a discrepancy in the reported incidence between autopsy series and those based on pneumoencephalographic studies. The incidence ranges from 0.7% to 5.3%. [4],[5] Lacey [6] stated that the incidence of agenesis of the corpus callosum was only 0.0005% in an unselected random autopsy population; this seems to be lower than one would expect for a malformation which is so well known in the dysmorphology literature and community of specialists.

A 23-year-old primigravida was seen for ultrasonographic fetal examination, at her visit to the antenatal clinic. Antenatal USG was performed, which showed features suggestive of hydrocephalus. At 38 weeks, elective cesarean section produced a female infant weighing 2.6 kg, with Apgar scores of 7 at 1 min and 10 at 5 min. The baby looked normal at general inspection. Ultrasonic examination confirmed dilatation of the occipital horns of the lateral ventricles and again the features were told to be suggestive of mild mydrocephalus. On clinical examination, the head circumference was normal, thus suspecting some other diagnosis and she was referred for an MRI scan. There was difficulty in visualizing the corpus callosum; MRI of the head confirmed agenesis of the corpus callosum. The films showed presence of calpocephaly and rabbits horn appearance or the devils horn appearence [Figure 1]. This child illustrates the difficulty in identifying agenesis of the corpus callosum antenatally, though it was suspected by us because of the finding of an isolated dilatation of occipital horns of the lateral ventricles without any other structural anomalies being identified.

Agenesis of the corpus callosum is an uncommon cerebral malformation that has been reported in 1 in 19,000 unselected autopsies and 2.3% of children with mental retardation. [4],[7] The defect may be complete or partial, depending on the stage at which callosal development is arrested.

Agenesis of the corpus callosum produces characteristic pathologic changes of the cerebral hemispheres and the ventricular system. On sagittal cuts of the MRI, the corpus callosum, cingulate gyrus, and sulcus are absent or malformed. In addition, there is a high-riding third ventricle that is open superiorly to the interhemispheric fissure. The sulci and gyri on the medial hemispheric surface have a radial or "spoke-like" configuration around the third ventricle. There is occasionally a dorsal cyst present in this space.

The lateral cerebral ventricles are displaced laterally and superiorly. In most cases, on transverse cuts of the brain, colpocephaly, or dilated occipital horns, are commonly appreciated. There is a stable, non-progressive dilatation.The reason for this enlargement is not known. [8],[9],[10] There is no evidence of obstruction along the CSF pathways. There is neither increased intraventricular pressure nor progressive ventriculomegaly. Probst bundles are longitudinal white matter tracts that indent and invaginate into the superior medial aspect of the lateral ventricles. [8],[9],[10] There are demonstrable Probst"s bundles in children with true agenesis, on a sagittal MR midline scan, which is the definitive radiological modality for evaluating agenesis of the corpus callosum. Byrd et al. [11] reported that MR is the best technique to evaluate the child or newborn with suspected agenesis of the corpus callosum and associated brain anomalies. He also found that ultrasound is a good screening modality of the neonatal head and can be used to demonstrate agenesis of the corpus callosum. When the findings are subtle on the ultrasound, or when agenesis of the corpus callosum is demonstrated on the ultrasonic examination, a CT or preferably an MR should be obtained to evaluate the brain for a complete outline of the corpus callosum and associated structures.

Differential diagnosis: Arachnoid cyst, porencephaly, hydrocephaly, and prominent septum cavum pellucidum.

The corpus callosum is phylogenetically a recent structure, and its absence is not lethal. Isolated agenesis of the corpus callosum may be either a completely asymptomatic event (found incidentally) or revealed during the course of a neurological examination by subtle deficits, such as inability to match stimuli using both hands or to discriminate differences in temperature, shape, and weight in objects placed in both hands. [12]

Persons with agenesis of the corpus callosum may have neurological problems, such as seizures (60%), intellectual impairment (70%), and psychosis. [1],[2],[3] However, these conditions are believed to be caused by abnormalities in associated cerebral anomalies rather than in the corpus callosum per se. Byrd et al. [11] studied a group of 105 children with a diagnosis of agenesis of the corpus callosum and reported that 26 (25%) had isolated agenesis of the corpus callosum with no associated brain anomalies. Eight of these presented with seizures which were controlled medically. Of the 105 children, 85% had symptoms and/or abnormal signs. The most common signs were macrocephaly with hydrocephalus and seizures. Postnatally, they found MR was the best radiological imaging modality for evaluating children with agenesis of the corpus callosum and associated brain anomalies. The most common associated brain anomalies (in decreasing frequency) were interhemispheric cyst with hydrocephalus, Dandy-Walker malformation, migrational disorder, absence of the inferior vermis, cephalocele, and lipoma of the interhemispheric fissure. The children who had the best prognosis without any significant neurologic sequelae were those with isolated agenesis of the corpus callosum.

The children with the worst prognosis and neurological sequelae were those with agenesis of the corpus callosum and migrational disorder with or without Dandy-Walker malformations. [11] Hence, prognosis is determined primarily by the underlying or associated malformation(s). [13]

In utero, the presence of hydrocephalus is usually assessed from the V/H ratio. This is the ratio of the ventricular width, as measured from the midline to the lateral wall of the lateral ventricle, to the width of the cerebral hemisphere. In agenesis of the corpus callosum, the lateral ventricles are widely separated, giving a falsely high value for the V/H ratio. The prominent posterior horns reinforce the impression of hydrocephalus as the posterior horn. V/H ratio is high and both medial and lateral borders are clearly visualized. Comstock et al, suggested that coronal view should be obtained if possible as this would show the characteristic concavity of the medial walls of the lateral ventricles and also possibly the absence of the corpus callosum. [14] According to Romero et al, upward displacement of the third ventricle is very specific. [15]

It is important to be aware of the features of agenesis of the corpus callosum. First, to distinguish it from hydrocephalus and second to instigate a search for further, more serious, anomalies with which it may be associated.

 
   References Top

1.Loeser JD, Alvord EC Jr. Clinicopathological correlations in agenesis of the corpus callosum. Neurology 1968;18:745-56.  Back to cited text no. 1  [PUBMED]    
2.Loeser JD, Alvord EC. Agenesis of the corpus callosum. Brain 1968;91:533.  Back to cited text no. 2      
3.Ettlinger G. Agenesis of the corpus callosum. Handbook of clinical neurology. In: Vinken GW, Bruyn PW, editors. Amsterdam: Elsevier/North Holland Biomedical Press; 1977;30:285-97.  Back to cited text no. 3      
4.Grogono JL. Children with agenesis of the corpus callosum. Dev Med Child Neurol 1968;10:613-6.  Back to cited text no. 4  [PUBMED]    
5.Warkany J, Passarge E, Smith LB. Congenital malformation in autosomal trisomy syndromes. Am J Dis Child 1966;112:502-17.  Back to cited text no. 5  [PUBMED]    
6.Lacey DJ. Agenesis of the corpus callosum: Clinical features in 40 children. Am J Dis Child 1985;139:953-5.  Back to cited text no. 6  [PUBMED]    
7.Freytag E, Lindenberg R. Neuropathic findings in patients of a hospital for the mentally deficient: A survey of 359 cases. Hopkins Med J 1967;121:379-92.  Back to cited text no. 7      
8.Barkovich AJ, Norman D. Anomalies of the corpus callosum. AJNR Am J Neuroradiol 1988;9:493-501.  Back to cited text no. 8      
9.Osborn AG: Diagnostic Neuroradiology. St. Louis: Mosby, Chicago; 1994.  Back to cited text no. 9      
10.Rubinstein D, Youngman V, Hise JH, Damiano TR. Partial development of the corpus callosum. AJNR Am J Neuroradiol 1994;5:869-75.  Back to cited text no. 10      
11.Byrd SE, Radkowski MA, Flannery A. The clinical and radiological evaluation of absence of the corpus callosum. Eur J Radiol 1990;10:65-73.  Back to cited text no. 11      
12.Dogan K, Dogan S, Lovrencic M. Agenesis of the corpus callosum in 2 brothers. Lijec Vjesn 1967;89:377-85.  Back to cited text no. 12      
13.Parrish ML, Roessmann U, Levinsohn MW. Agenesis of the corpus callosum: A study of the frequency of associated malformations. Ann Neurol 1979;6:349-54.  Back to cited text no. 13  [PUBMED]    
14.Comstock CH, Culp D, Gonzalez J, Boal DB. Agenesis of the corpus callosum in the fetus: Its evolution and significance. J Ultrasound Med 1985:4;613-6.   Back to cited text no. 14      
15.Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC. Agenesis of the corpus callosum. In: Prenatal Diagnosis of Congenital Anomalies. Norwalk: Appleton & Lange.1988:67-70.  Back to cited text no. 15      


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