Challenges in managing endocrine and metabolic dysfunction in a child with Prader-Willi syndrome and medulloblastoma

Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by severe hyperphagia, early-onset obesity, developmental delay, behavioral disturbances, and multiple endocrine dysfunctions. Clinical management is especially challenging when complicated by central nervous system tumors, which can further exacerbate hypothalamic dysfunction with consequent endocrine and metabolic complications. We present a clinically complex case of a girl with genetically confirmed PWS who developed medulloblastoma, requiring neurosurgical resection, craniospinal radiotherapy, and chemotherapy. Subsequent management was complicated by severe obesity, insulin resistance with impaired glucose tolerance, central hypothyroidism, adrenal insufficiency, and progressive neurological decline with severe obstructive sleep apnea. Key clinical challenges highlighted include the cautious re-initiation of growth hormone therapy post-oncological treatment, carefully balancing its metabolic and growth benefits, alongside multidisciplinary strategies to manage severe obesity-related endocrine and metabolic dysfunction. This case describes the co-existence of PWS and medulloblastoma, highlighting important clinical considerations that may inform management strategies and optimize outcomes in similarly complex situations.