(Galloway syndrome)

Prevalence: < 1/106. X-linked recessive or autosomal recessive transmission. At least 10 genes may be involved, 4 of which coding for the subunits of the KEOPS complex.

A distinction is made between:

- type 1: mutation of the WDR73 gene (15q25.2) [MIM 251 300]

- type 2: mutation of the LAG3 gene (Xq28) [MIM 301 006]

- type 3: mutation of the OSGEP gene (14q11) [MIM 617 729]

- type 4: mutation of the TP53RK gene (20q13) [MIM 617 730]

- type 5: mutation of the TPRKB gene (2p13) [MIM 617 731]

- type 6: mutation of the WDR4 gene (21q22) [MIM 618 347]

- type 7: mutation of the NUP107 gene (12q15) [MIM 618 348]

- type 8: mutation of the NUP 133 gene (1q42) [MIM 618 349]

- type 9: mutation of the GON7 gene (14q32) [MIM 619 603]

- type 10: mutation of the WDR73 gene (1p34) [MIM 612 276]

Clinical association of:

-        a progressive microcephaly (prenatal or postnatal onset), due to gyration abnormalities of the cerebral cortex (from pachygyria to lissencephaly) associated with mental retardation and seizures

-        a proteinuria or congenital nephrotic syndrome due to glomerulopathy. There are two types of nephrotic syndrome: an early-onset form (before 3 months of age), characterized by massive proteinuria (death before 1 year of age) and a later-onset form that responds poorly to medical treatment and quickly leads to chronic renal failure

-        a progressive optical atrophy

-        an extrapyramidal syndrome

-        a severe intellectual disability (no acquisition of walking, speech difficulties)

-        arachnodactyly

-        a facial dysmorphism: high and narrow forehead, microphthalmia, almond-shaped eyes, hypertelorism, micrognathia and large ears

-        a hiatal hernia

Anesthetic implications: 

seizures, chronic renal failure, risk of difficult intubation. In one reported case: abnormal position of the femoral vessels

References : 

-        Bailey A, Georges L. 
Anesthetic management of a patient with Galloway-Mowat syndrome. 
Pediatr Anesth 2007; 17: 1111-2.

Updated: June 2022