Introduction
Agenesis of the corpus callosum (ACC) is one of the most frequent congenital brain disorders, characterized by the total or partial loss of the corpus callosum. Callosal development disorders can arise when neurogenesis, neuronal migration and specification, telencephalic midline patterning, axon guidance, or post-guidance development are disrupted [1, 2]. This abnormality can develop singly, in conjunction with chromosomal, syndromic, or monogenic problems, and, in rare cases, as a result of ischemic, viral, or teratogenic causes [3, 4]; only 10% of the cases are related to chromosomal abnormalities [5]. Different studies illustrated that the prevalence of ACC is about 1 in 4000-5000 live-births [6, 7]. The studies describe a range of cognitive and neurological characteristics related with ACC; developmental delay, linguistic difficulty, intellectual disability, motor impairments, and epilepsy are all common traits [8].
ACC is detected during a second-trimester ultrasonography test when the cavum septi pellucidi (CSP) is not visible in the axial plane; However, due to the heterogeneity of presentation, prenatal diagnosis may not be attainable in all cases [3, 9]. In addition, the prognosis of patients diagnosed with ACC is difficult to predict [10].
There are several known syndromes, such as Aicardi, acrocallosal, Andermann, and Shapiro, in which the ACC can occur alongside other disorders [11]. Acrocallosal syndrome (ACLS) is an uncommon autosomal recessive genetic disorder initially discovered in 1979 by Schinzel et al.; which is caused by mutations in the KIF7 gene [12, 13]. ACLS is characterized by corpus callosum agenesis, hallux duplication, post-axial and pre-axial polydactyly, macrocephaly, minor craniofacial anomalies, and severe psychomotor retardation [13]. Although autosomal recessive inheritance has been hypothesized, ACLS frequently seems to develop sporadicly [14]. However, Genetic counseling is an essential precaution for future pregnancies [15].
We present the case of a 20-day-old neonate with characteristics consistent with ACLS. The patient’s parents did not have a hereditary disorder, but his mother’s occupation as a hairdresser exposed her to several chemicals during pregnancy. This case report was carried out in compliance with the World Medical Association’s Helsinki Declaration. The patient’s parents have given us written informed consent for this case report to be published.