Introduction: Holoprosencephaly, the most common developmental defect of forebrain and midface, is caused by impaired or incomplete midline division of prosencephalon. We review the antenatal and postnatal picture of this condition and associated neurosurgical problems with management.
Methods: A retrospective and prospective analysis of 64 antenatal and postnatal patients with Holoprosencephaly over the past 10 years was carried out.
Results: Majority of diagnosis of this condition was made in the antenatal period. The types of Holoprosencephaly based on radiological diagnosis were semilobar, alobar and lobar types. Cysto peritoneal shunt was the common form of neurosurgical procedure performed. Craniofacial, endocrine abnormalities and Dandy Walker malformation (7.5%) were the most common associated features observed in our series. Mortality rate was noted in more than 70% in confirmed cases. 2 patients had normal development with normal brain development on follow up imaging.6 patients had different diagnosis at follow up. Karyotyping revealed a mixture including Trisomy 13 (21%), Trisomy 2p with 6q deletion, 18q deletion and normal karyotype. Survivors had significant developmental delay and seizure disorder.No association with TORCH infection noted in the antenatal cohort.
Conclusions: We conclude that the prognosticating factors of Holoprosencephaly and the clinical outcomes are in line with evidence published so far. In some cases the original diagnosis of Holoprosencephaly changed during follow-up. Our series appears to be one of the largest in literature so far. Multidisciplinary approach in management including genetic counseling to parents was adopted to treat the array of symptoms arising from this malformation.
Patient Care: Our study will aid to counsel pregnant women with an antenatal diagnosis of holoprosencephaly and may potentially help in deciding continuation of pregnancy.
There is more than 70% mortality in children diagnosed with holoprosencephaly and significant morbidity in the surviving children needing multidisciplinary care and rehabilitation.
Learning Objectives: To determine what percentage of antenally and postnatally diagnosed holoprosencephaly patients survive and to determine the extent of disability in surviving patients.
To see if the antenatal and postnatal diagnosis is concordant and to see how far neuroimaging is helpful.