Type 2 Guacher's disease is associated with severe neuronopathic features.
Patients have bi-allelic GBA1 gene pathogenic variants with acid beta-glucosidase deficiency. The diagnosis is excluded if the patient has the p.Asn409Ser variant.
Some patients are identified at birth with hydrops fetalis or congenital ichthyosis.
Onset of neurological deficits at or before 6 months of age.
Features:
(1) supranuclear gaze palsy, vertical or horizontal, with slow or absent saccades
(2) convergent squint
(3) rapid neurological deterioration during the first 2 years of life
(4) progression to severe stridor and apnea by 2 years of age, often requiring a tracheostomy
(5) abnormal swallowing resulting in feeding difficulties
(6) spasticity, opisthotonusand/or progressive myoclonic epilepsy by 2 years of age
(7) failure to gain independent gait
Death usually occurs by 4 years of age
Less severe neuronopathic findings are associated with Type 3 Gaucher Disease.
