Similarly, Case 8 demonstrates how rare variants in BSCL2 can manifest as PELD (or Celia’s encephalopathy, https://www.omim.org/entry/615924) — a genetic disorder that presents with generalized lipodystrophy and severe progressive neurodegeneration from an early age (32, 70). The gene discussed is BSCL2; the disease is severe neurodegenerative syndrome with lipodystrophy.