CK syndrome
|
X-linked recessive transmission of mutations of the NSDHL gene (Xq28) causing abnormal cholesterol biosynthesis (3β-hydroxysteroiderol dehydrogenase) and hypocholesterolemia.
Association of:
- moderate to severe mental retardation ; often microcephaly with cortical malformations and seizures in boys
- facial dysmorphism: almond-shaped eyes , epicanthus, high arched palate, retrognathia
- long and thin fingers and toes
- behavioral disorders: hyperactivity, aggressiveness.
Sometimes: kyphoscoliosis.
Anesthetic implications:
mental retardation, epilepsy, risk of difficult intubation.
References :
- du Souich C, Raymond FL, Grzeschick KH et al.
NSDHL-related disorders.
Gene Reviews Feb 16, 2012.
Updated: October 2019