[MIM 614 098]

Extremely rare. Heterozygous mutation of the KCNJ6 gene (21q22.13).  Association of slow postnatal growth, generalized lipodystrophy (see this topic), hypertonia and hyperreflexia,  and severe mental retardation. Microcephaly with prominent eyes and a narrow nasal bridge. Due to the absence of subcutaneous tissue the skin  overlying the facial bones seems to adhere to them.

Anesthetic implications:

no reported case. By analogy with other forms of lipodystrophy: check the blood glucose (diabetes ?), check the BP, ECG, cardiac ultrasound. Check liver function. In case of hypertriglyceridemia,  avoid propofol-based total intravenous anesthesia: risk of acute pancreatitis.

In one case of generalized lipodystrophy, it has been shown that delayed awakening is directly related to the increased sevoflurane blood solubility in case of hyperlipemia

References : 

-        Basel-Vanagaite L, Shaffer L, Chitayat D. 
'Keppen-Lubinsky syndrome: Expanding the phenotype'. 
Am J Medical Genetics 2009; 149A: 1827–9

-         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: February 2019