Leigh’s disease was found postmortem in a 5-year-old girl who was diagnosed clinically as Cornelia de Lange syndrome at age 1 year. The child’s neurological status began to deteriorate rapidly at age 4.5 years and she died suddenly 6 months later. Postmortem examination of the brain revealed bilateral necrosis of the hypothalamus, subthalamic nuclei, midbrain, pons, and medulla. Previous studies have linked Cornelia de Lange syndrome to hypothalamic lesions. This case demonstrates that Leigh’s disease, which also damages the hypothalamus, could present with phenotypic features of Cornelia de Lange syndrome.

The efficacy of salvage stem cell transplantation (SCT) after re-induction with modern triplet or quadruplet regimens has been shown in clinical studies. However, there are limited data concerning the optimal choice of reinduction therapy for patients (pts) with relapsed/refractory multiple myeloma (RRMM) prior to salvage SCT in clinical practice.