MIM 253 280

(Lissencephaly type II, HARD syndrome [Hydrocephalus - Agyria - Retinal Dysplasia] , muscle-eye-brain disease, Emery-Dreifuss muscular dystrophy type 3, Pagon syndrome)

(see Congenital muscular dystrophies)

Autosomal recessive transmission of a mutation of gene POMGnT1 on 1p32-34 that controls the synthesis of a protein of the Golgi apparatus.  Mutations of FKRP gene on 19q31 or POMT2 on 14q24 can produce a similar phenotype). Neuronal migration abnormality resulting in a cerebral and cerebellar smooth surface similar to Fukuyama syndrome (see that term), hydrocephalus and eye abnormalities (glaucoma, microphthalmia, cataracts). Progressive muscular dystrophy with high CPK level: hypotonia, contractures

Anesthetic implications:

avoid succinylcholine and be careful with halogenated agents (risk of rhabdomyolysis ?). Glaucoma. Risk of intracranial hypertension.

References : 

-         Sahajananda H, Meneges J. 
Anaesthesia for a child with Walker-Warburg syndrome. 
Paediatr Anaesth 2003; 13: 624-8.

-        Gropp A, Kern C, Frei FJ. 
Anaesthetic management of a child with muscle-eye-brain disease. 
Paediatr Anaesth 1994; 4: 197-200

-        Karhunen U.
Serum creatine kinase levels after succinylcholine in children with muscle-eye-brain disease.
Can J Anaesth 1988; 35: 90-2.

-        Kose EA, Bakar B, Ates G, Aliefendioglu D, Pan A.
Anesthesia for a child with Walker-Warburg syndrome.
Rev Bras Anestesiol 2014; 64: 128-30.

-        Valk MJA, Loer ST, Schober P, Dettwiler S.
Perioperative considerations in Walker-Warburg syndrome.
Clin Case Reports 2015; 3: 744-8.

-        Hackmann T, Skidmore DL, MacManus B.
Case report of cardiac arrest after succinylcholine in a child with Muscle-Eye-Brain disease.
A&A Case Reports 2017: 9: 244-7

Updated: September 2018