[MIM 609 734]

Very rare. Autosomal recessive transmission of a mutation of POMC gene (2p23.3) (the patient is homozygous or complex heterozygous), which codes for proopiomelanocortine: this glycosylated protein is synthesized in the hypothalamus, corticotrope cells of the anterior hypophysis and the melanocytes. It is the precursor of many hormones and peptides of the corticolipotropic family under the action of endopeptidases, specific convertases present in for each type of cells . The most important hormones are the corticotropin or ACTH, ß-lipotropine or ß - LPH, ß-endorphin, α - MSH and ß - MSH melanostimulines The mutation causes a deficiency in MSH, ACTH and endorphins.

A 2p24.1p23.2 deletion, that includes that gene causes a similar clinical picture.

Clinical presentation:

-         neonatal hypoglycemia and hyperbilirubinemia

-         early hyperphagia with obesity before the age of one year

-         red hair and pale skin,

-         morbid obesity,

-         narrow forehead with thick eyebrows, 

-         psychomotor retardation.

Anesthetic implications: 

there is a risk of increased sensitivity to opioids due to the upregulation of opioid receptors secondary to the deficiency in endorphins; morbid obesity

References : 

-        Krud H, Biebermann H, Luck W, Horn R, Brabant G, Gruters A. 
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. 
Nature Genet 1998; 19: 155-7.

-        Dewé G, Hermans E, Lavand’homme P.
2p24.1p23.2 deletion and delayed recovery after a general anesthesia for gastrointestinal endoscopic procedure.
Pediatr Anesth 2017; 27: in press

Updated: March 2017