[MIM 615 381]

(MDPL syndrome, acronym for Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy)

Very rare. Autosomal dominant transmission of a mutation of the POLD1 gene (19q13.3-q13.4), coding for a catalytic subunit of DNA delta polymerase.

Association of:

-        premature aging of genetic origin

-        sensorineural hearing loss,

-        lipodystrophy: generalized lack of subcutaneous adipose tissue, especially on the limbs, despite excessive deposits on the trunk from childhood,

-        scleroderma

-        facial dysmorphism: large eyes, bird's beak nose, small mouth, dental malocclusion and mandibular hypoplasia

-        hypertriglyceridemia and diabetes mellitus with insulin resistance; hepatic steatosis.

Other manifestations include growth retardation, joint contractures, telangiectasia, hypogonadism (with inadequate breast development in girls), cryptorchidism and skeletal muscle atrophy.

Anesthetic implications:

check diabetic treatment, triglyceride blood levels and liver enzymes. Risk of difficult intubation. Avoid total IV anesthesia with propofol: risk of aggravating hypertriglyceridemia and subsequent pancreatitis. Difficult peripheral venous access. Possible modification of the pharmacokinetics of lipophilic agents.

References :

-        Sekiguchi R, Kinoshita M , Sakai Y, Tanaka K.
Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome:a case report.
JA Clinical Reports 2024 ; 10:64 doi.org/10.1186/s40981-024-00747-8

-        Steen ER, De Baerdemaeker LEC, Van Limmen E, Wouters P.
Some pharmacokinetics of sevoflurane in a child with severe lipodystrophy.
A & A Case Reports 2014; 2: 61-4.

Updated: December 2024