OBJECTIVE: To evaluate the contribution of prenatal and postmortem examinations in establishing the aetiology of acrania. METHODS: Retrospective evaluation of 14 cases of acrania managed through elective termination of pregnancy. RESULTS: The median maternal age was 30 years (range 18-40) and median gestational age at diagnosis was 13 weeks (range 12-15). One mother had epilepsy and was taking anticonvulsants and another had uncontrolled type II diabetes mellitus. Only 3 women were using folic acid at conception. Chromosomal abnormalities were detected in 3 of 8 cases analyzed. Unilateral anopthalmia, cervical rachischisis, midline facial and limb defects coexisted with acrania in 4 cases. Acrania with craniofacial dysmorphism and asymmetrical finger amputation were observed in a case of amniotic band syndrome. A previous history of anencephaly was documented in 1 case. CONCLUSION: Acrania is a characteristic phenotypic expression of a variety of different aetiologies. Investigation with cytogenetic studies and postmortem are essential to provide a definitive answer. This will provide a better understanding of the underlying aetiology and help establish the recurrence risk for future pregnancies.
OBJECTIVE: To evaluate the contribution of prenatal and postmortem examinations in establishing the aetiology of acrania. METHODS: Retrospective evaluation of 14 cases of acrania managed through elective termination of pregnancy. RESULTS: The median maternal age was 30 years (range 18-40) and median gestational age at diagnosis was 13 weeks (range 12-15). One mother had epilepsy and was taking anticonvulsants and another had uncontrolled type II diabetes mellitus. Only 3 women were using folic acid at conception. Chromosomal abnormalities were detected in 3 of 8 cases analyzed. Unilateral anopthalmia, cervical rachischisis, midline facial and limb defects coexisted with acrania in 4 cases. Acrania with craniofacial dysmorphism and asymmetrical finger amputation were observed in a case of amniotic band syndrome. A previous history of anencephaly was documented in 1 case. CONCLUSION:Acrania is a characteristic phenotypic expression of a variety of different aetiologies. Investigation with cytogenetic studies and postmortem are essential to provide a definitive answer. This will provide a better understanding of the underlying aetiology and help establish the recurrence risk for future pregnancies.
Authors: Goeril Karlsson; Gordon Francis; Gideon Koren; Peter Heining; Xiaoli Zhang; Jeffrey A Cohen; Ludwig Kappos; William Collins Journal: Neurology Date: 2014-01-24 Impact factor: 9.910