What is Gaucher disease Type 2?

The clinical course of Gaucher disease Type 2 is rapid and typically refers to children who have early and severe neurological abnormalities before age 6 months, and die despite treatment.1,2 The average age at death in children with Gaucher disease Type 2 has been reported as 11.7 months (age range, 2‒25 months). Patients with Gaucher disease Type 2 may die either from pneumopathy (any disease of the lungs) or from apnoea (cessation of breathing, particularly during sleep).3-5

Clinical features of Gaucher disease Type 2: a retrospective French study

A retrospective study investigated the clinical history of 15 patients with Gaucher disease Type 2 and assessed available data from 104 published cases of early-onset neuronopathic Gaucher disease.5

In 95% of cases (n=72/76), the first signs of Gaucher disease Type 2 occurred before 9 months of age (mean age, 3.5 months; age range 0‒19 months). It was noted that signs of Gaucher disease were detected in the first few days of life in nine patients (splenomegaly [six cases], neurological signs [five cases] and ichthyosis [a congenital skin condition causing thick, scaly skin; two cases]).5,6 At first examination, neurological and visceral signs appeared in 37% of patients (neurological signs only, 41%; visceral signs only, 22%). If secondary neurological signs became evident, they often occurred at 1 month of age, but rarely beyond 6 months of age (5% of cases).5


The frequency of primary neurological signs throughout the course of disease in paediatric patients with Gaucher disease Type 2 (n=76) were reported as follows5:

  • 87% neck hyperextension
  • 72% oculomotor signs
  • 72% peripheral hypertonia*
  • 88% feeding difficulties (swallowing impairment, weak suckling and frequent vomiting)
  • 61% apnoea
  • 24% stridor
  • 24% lockjaw.


The neurological signs of the disease occurred either one-by-one or in a cluster and then worsened, with most of the neurological signs of Gaucher disease Type 2 occurring as a result of degeneration of the brainstem. The frequency of apnoea increased the most during late-stage disease, and since apnoea is the main cause of death in patients with Gaucher disease Type 2, this finding may explain why the disease duration is shorter for patients who display apnoea early in the disease course.5


The frequency of primary non-neurological signs throughout the disease course in paediatric patients with Gaucher disease Type 2 (n=76) has been reported as follows5:

  • 97% splenomegaly
  • 61% thrombocytopaenia (with or without anaemia)
  • 54% lung disease (chronic cough and permanent bronchorrhea, recurrent pneumopathies or refractory hypoxia)
  • 41% failure to thrive
  • 33% fever.


In this study, the most severe non-neurological feature of Gaucher disease Type 2 was pulmonary involvement, which may be caused by bilateral interstitial lung disease, pulmonary hypertension, restrictive ventilatory impairment or intrapulmonary arterial-venous shunts in those who had severe hepatic disease.5

*Extreme tension in the skeletal muscles and arteries7
Noisy breathing, usually caused by an infection that covers the opening of the trachea in children8


C-ANPROM/INT//7566; Date of preparation: September 2020