A patient with Gaucher's Disease (GD) may experience a range of neuronopathic features. These are mild to moderate in Type 3 GD versus severe in Type 2.
The patient will have acid beta-glucosidase deficiency and bi-allelic pathogenic variants of GBA1. The patient may have homozygosity of the p.Leu483Pro GBA1 variant.
Onset is usually after 6 months of age.
Clinical features:
(1) gaze palsy with slow or absent saccades
(2) development of independent gait
(3) variable seizure disorder, including complex, generalized or progressive myoclonic epilepsy
(4) neurologic abnormalities that may include: ataxia, motor deficit, hyperreflexia without a pyramidal disorder, tremor, stridor, dysarthria, dysphagia, dystonia and cognitive impairment
(5) thoracic kyphosis with or without scoliosis
(6) mesenteric lymphadenopathy
(7) infiltrative lung disease
(8) vitreous or corneal opacities
(9) calcifications of cardiac valves and/or aorta
(10) hydrocephalus
Rapid neurological decline does not occur, with the exception of the progressive myoclonic epilepsy variant.
