The clinical management of Type 2 Gaucher disease

Abstract

Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disorders. Type 2 Gaucher disease, the most severe and progressive form, manifests either prenatally or in the first months of life, followed by death within the first years of life. The rarity of the many lysosomal storage disorders makes their diagnosis a challenge, especially in the newborn period when the focus is often on more prevalent illnesses. Thus, a heightened awareness of the presentation of these rare diseases is necessary to ensure their timely consideration. This review, designed to serve as a guide to physicians treating newborns and infants with Gaucher disease, discusses the presenting manifestations of Type 2 Gaucher disease, the diagnostic work-up, associated genotypes and suggestions for management. We also address the ethical concerns that may arise with this progressive and lethal disorder, since currently available treatments may prolong life, but do not impact the neurological manifestations of the disease.

Keywords: Acute neuronopathic; Congenital ichthyosis; Gaucher disease; Hydrops fetalis; Lysosomal storage disorder; Palliative care.

Figure 1

Establishing the diagnosis of Gaucher disease

Figure 2

Two patients with Type 2 Gaucher disease demonstrating the characteristic facies and strabismus. Top panel shows the first infant at age 6 months (left) and post-tracheotomy at 16 months (right). Lower panel shows the second child at age 8 months (left ) and after tracheotomy at age 2 years.

Figure 3

Neonatal presentations of Gaucher disease demonstrating organomegaly (top left), hydrops (bottom) and peeling skin (top).