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.