Research Day
Holoprosencephaly
Document Type
Abstract
Date
2019
Abstract
INTRODUCTION: Holoprosencephaly is a congenital malformation defined by partial or complete separation of the prosencephalon. A spectrum of mental and physical deficits can induce familial hardship, leaving patients vulnerable to potential abuse.1
PURPOSE: We present the case of a child with holoprosencephaly found deceased in her bed.
MATERIALS: The case is selected from the files of one of the authors (JP).
RESULTS: A 3-year-old female with frontal lobar holoprosencephaly causing severe mental and physical disabilities was found deceased in a bed cluttered with pillows, with one lying over her face. The decedent had a history of diabetes insipidus, repaired cleft lip, and cleft palate. Prior to death, she had experienced breathing abnormalities. At autopsy, there were no injuries. Brain exam revealed a discontinuous connection between the frontal lobes which extended into the anterior aspect of the normal location of the septum pellucidum, which was absent. The olfactory bulbs/tracts were also absent. Microscopically, there was moderate to severe bronchiolitis/bronchitis. Subsequent investigation failed to reveal any indication of accidental or intentional asphyxia. The cause of death was bronchiolitis/bronchitis with underlying partial holoprosencephaly.
DISCUSSION: Holoprosencephaly is often diagnosed by fetal imaging confirming incomplete cleavage of the prosencephalon. Holoprosencephaly results in severe developmental deficits, as well as a spectrum of craniofacial abnormalities, feeding difficulties, endocrine disorders, and autonomic nervous system dysfunction.2 Holoprosencephaly has long-term familial and financial implications1, contributing to the risk of abuse.
CONCLUSION: Although concerns for possible abuse in this case were unwarranted, the case serves to educate clinicians about holoprosencephaly.