Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.
Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling.
Hanna
R
R
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
McDonald
M T
MT
Sullivan
J A
JA
Mackey
J F
JF
Krishnamurthy
V
V
Kishnani
P S
PS
D017668:Age of Onset; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005471:Fluoroscopy; D005776:Gaucher Disease / Q000175:diagnosis* / Q000628:therapy*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010641:Phenotype; D011379:Prognosis