新生儿生物学杂志

抽象的

Holoprosencephaly and Dandy Walker Malformation: A Rare Association Presenting as Birth Asphyxia

Rashmita Nayak and Suvendu Mohapatra

Background: Holoprosencephaly a type of neuronal migration defect may present as birth asphyxia and is usually associated with other central nervous system and/ or systemic malformations. But its association with Dandy Walker cyst is rare.
Case characteristics: In a 6 month old male child presenting with global developmental delay since birth and refractory seizures with microcephaly and hypotonic extremities all attributed as birth asphyxia sequel neuroimaging revealed holoprosencephaly and dandy walker malformation, two major malformations in one child.
Observation: Till nine months child was considered to be post asphyxia sequel due to global developmental delay and seizures but only neuroimaging pointed towards the malformations. Computed tomography revealed presence of Dandy Walker malformation with semilobar holoprosencephaly which was the reason for the refractory seizures and thus had guarded prognosis.
Outcome: On three months follow up the child continued to have refractory seizures and delayed development. Message: Central nervous system malformations may be symptomatic from birth and may present with poor apgar score at birth, refractory seizures and global developmental delay due to which they may be confused with birth asphyxia. Timely neuroimaging can make the diagnosis and thus the prognosis.