The role of beta-amyloid precursor protein (beta-APP) staining in the neuropathologic evaluation of sudden infant death and in the initiation of clinical investigations of subsequent siblings

Abstract

This report highlights the importance of undertaking immunohistochemical staining of the brains of infants who die unexpectedly, as it may not only assist with the evaluation of the cause of death in an individual infant but may also help with the clinical management of subsequent siblings. A 5-month-old male infant who died suddenly was found to have diffuse [beta]-amyloid precursor protein ([beta]-APP) staining in the brain, with no unusual features in his history, death scene examination, routine autopsy dissection, and ancillary tests to suggest any definite cause of death. Due to the [beta]-APP staining, the possibility of previous episodes of occult trauma, apparent life threatening events (ALTEs), and accidental or inflicted suffocation was raised in the autopsy report. As detailed analyses and investigations provided no supportive evidence for trauma or inflicted injury, hypoxia was clinically considered the most likely cause. Because of these concerns, sleeping oxygen saturation levels were monitored following the birth of a subsequent sibling who had normal APGAR scores and no evidence of any health problems. Oxygen desaturation to 70% occurred in association with a color change while on the postnatal ward, and a subsequent polysomnogram showed multiple episodic significant desaturations to around 80% in association with central apnea. Other testing was unremarkable. These cases demonstrate that [beta]-APP staining of the brain may not only provide clues as to possible mechanisms of death in pediatric forensic cases but may indicate a need for careful clinical evaluation of subsequent siblings for possible central apnea requiring oxygen therapy.