Polyglucosan bodies have been reported in the context of hypoxic-ischaemic perinatal brain injury, mainly in the pallidum but with rare reports in brainstem neurons. We report a case of a five-year-old boy with cerebral palsy and complex neurological features including epilepsy who experienced sudden nocturnal death. At post-mortem long-standing bilateral necrosis of basal ganglia and hippocampal atrophy was identified in keeping with hypoxic-ischaemic perinatal injury. In addition numerous polyglucosan bodies, which were PAS, p62 and ubiquitin positive, were noted in brainstem neurones and dendrites, primarily involving the ventrolateral and dorsomedial medulla. Immunohistochemistry confirmed relative preservation of medullary neuronal populations in the reticular formation, including catecholaminergic (tyrosine hydroxylase, TH), serotonergic (tryptophan hydroxylase) and neurokinin1 receptor/somatostatin positive neurones. The polyglucosan bodies predominated in catecholaminergic neurones which could indicate their selective vulnerability and a functional deficiency, which during a critical peri-ictal period contributed to the sudden unexpected death in epilepsy.
Keywords: MR, Median raphe; Medulla; PGB, polyglucosan bodies; Polyglucosan bodies; SUDEP; SUDEP, Sudden unexpected death in epilepsy; TH, Tyrosine hydroxylase; TPH, Tryptophan hydroxylase; VLM, Ventrolateral medulla.
© 2021 The Authors.