[MIM  230 500, 230 600, 230 650]

(Landing syndrome, pseudo - Hurler syndrome, type B Morquio disease)

Rare: 1/100.0000 to 1/200,000 but most common in the Brazil, Malta and the Roma population. Autosomal recessive transmission of a mutation of the GLB1 gene on 3p21.pter. Lysosomal disease caused by a deficiency in acid ß-galactosidase, which induces a progressive accumulation of ganglioside GM1 in the central nervous system, but also oligosaccharides containing galactosyl and  keratan sulfate in other tissues. 

The clinical presentation depends on the residual activity of the enzyme. 

There are 3 forms:

• early juvenile form (type I or Landing disease): nearly complete deficiency, onset before 6 months of age with early neurological deterioration: major hypotonia, encephalopathy 

*         facial dysmorphism: prominent forehead, epicanthus, saddle nose, microretrognathism, gingival hypertrophy, macroglossia, edema of the eyelids and extremities; obstructive sleep apnea

*         hepatosplenomegaly, hernias

*         skeletal abnormalities: initially, hypertrophy of the periosteum with bone demineralization. Later, clinical picture of multiplex dysostosis (large articulations, wedge-shaped vertebrae, anomalies of the epiphyses), dorsal kyphosis

*         cherry red macular stain on fundus examination: blindness after a few months

*         vacuolated lymphocytes, foamy cells in the bone marrow

*         sometimes: cardiac fibroelastosis  or supraventricular arrhythmia; possible cardiac valvulopathy

*         usually death in the first 2-3 years of life

• late juvenile form (type II): onset usually between 1 and 5 years of age: mental deterioration, ataxia and spastic paraplegia; oculomotor damage, sometimes epilepsy; occasional retinal abnormalities; discrete visceral involvement but radiological image of dysostosis; death around the age of 10 years
• adult or chronic form (type III): onset between 3 years and adulthood; slowly progressive encephalopathy with dystonia and dysarthria: sometimes signs of juvenile parkinsonism; discrete  skeletal anomalies (ovoid vertebrae) but occasional aspect of type B Morquio disease in childhood.

Treatment: symptomatic; trials of treatment with miglustat  are underway for types II and III.

Anesthetic implications:

depending on the type of presentation,

-         type I: echocardiography, difficult mask ventilation and intubation; difficult venous access, obstructive sleep apnea. mental retardation with deafness and blindness (see Hurler disease)

-         type II: mental retardation, spastic paraplegia, sometimes epilepsy 

-         type III: chronic encephalopathy, occasionally  dementia

References : 

Updated: April 2019