Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.

Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a potential drug target for metabolic syndrome, as Plaat3 deficiency in mice protects against diet-induced obesity. We identified seven patients from four unrelated consanguineous families, with homozygous loss-of-function variants in PLAAT3, who presented with a lipodystrophy syndrome with loss of fat varying from partial to generalized and associated with metabolic complications, as well as variable neurological features including demyelinating neuropathy and intellectual disability.

Identification of chloramphenicol in human hair leading to a diagnosis of factitious disorder.

Chloramphenicol (2,2-dichloro-N-[1,3-dihydroxy-1-(4-nitrophenyl)porpan-2-yl]acetamide) is a bacteriostatic antibiotic of the phenicolated family, used in the past to treat meningitis, plague, cholera, or typhoid fever. Treatment with chloramphenicol can have life threatening side effects, the most serious of which is aplastic anemia, which may be fatal. For this reason, the antibiotic was removed from the French market in 2008.

Efficacy of everolimus in patients with metastatic insulinoma and refractory hypoglycemia.

Background: Refractory hypoglycemia in patients with metastatic insulinoma is an important cause of morbidity and mortality. Everolimus could be a new therapeutic option.

Methods: Within the French Group, we conducted a retrospective, multicentric study of endocrine tumors to evaluate the time to the first recurrence of symptomatic hypoglycemia, after everolimus initiation, in patients with metastatic insulinoma and refractory hypoglycemia.