Abstract

We present a case of brain autopsy of a 19-year-old male. He was born at term, with macrocephaly noted at 34 weeks of gestational age. Other medical conditions in the subject included hydrocephalus, epilepsy, developmental delay, and recurrent aspiration pneumonia and tracheostomy dependent chronic lung disease.

What is/are?

1 : What is the differential for the finding in the gross picture?
2 : What microscopic findings are present on the H&E slide?
3 : What syndromes are associate with this combination of gross and microscopic findings?
4 : What genetic abnormalities have been identified in those syndromes?