Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis.
Gaucher's disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its three existing forms, the most frequent non-neurological form (type 1: GD1) is treatable with appropriate amounts of exogenous enzyme-replacement therapy (ERT), whereas in the type 3 form (GD3), progression of the neurological involvement may be slowed down or halted by much higher doses of ERT than those used in GD1 because of the inability of ERT to cross the blood-brain barrier.
Accardo
Agostino
A
D.E.E.I., University of Trieste, Trieste, Italy.
Bembi
Bruno
B
Pensiero
Stefano
S
Perissutti
Paolo
P
D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D009759:Nystagmus, Pathologic / Q000209:etiology / Q000503:physiopathology*; D012438:Saccades / Q000502:physiology*; D012720:Severity of Illness Index; D015348:Vision, Binocular / Q000502:physiology