Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases

Abstract

We describe two cases of intracranial cystic lesions associated with acrocallosal syndrome. These fetal anomalies were detected on antenatal sonography and confirmed postnatally. Imaging findings include corpus callosum agenesis with interhemispheric cysts and craniofacial anomalies associated with polydactyly. Identifying the above imaging features is of importance to plan management and provide supportive care that may be required.

A case of acrocallosal syndrome in a neonate with congenital heart abnormality

“…14 According to the criteria established by Courtens et al in 1997, the diagnosis of ACLS can be made if at least three of the following four criteria are present: 1) Minor craniofacial abnormalities 2) Moderate to severe mental retardation with hypotonia 3) Polydactyly 4) Total or partial absence of the corpus callosum. 11 Polydactyly and agenesis of the corpus callosum and widening of the anterior fontanelle were observable in our patient, but despite the structural abnormalities of the brain, the patient's neurological exams were normal. Due to the child's young age, it is currently impossible to form a definitive assessment on his mental development.…”

“…10 However, Genetic counseling is an essential precaution for future pregnancies. 11 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.…”

A rare case of acrocallosal syndrome in a neonate with a history of maternal exposure to cosmetics-related chemicals

“…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].…”