Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain

Abstract

Galactosialidosis (GS, OMIM #256540) is a systemic autosomal recessive disorder that is due to a mutation in the cathepsin A (CTSA) gene. Its worldwide prevalence is rare, accounting for ~146 cases reported cases globally. In Bahrain alone, nine cases have been confirmed. This article aims to shed a light on the clinical spectrum and outcome of these nine patients who share the same novel genetic mutation. The article was written retrospectively based on the review of patients' medical records, which included clinical notes, biochemical, radiological, and genetic assessments. Analysis of the data from all nine patients revealed that the diagnosis was most commonly made at the early years of life. As expected from any systemic disorder, the disease affects multiple organ systems with musculoskeletal and the gastrointestinal system being most commonly involved. Short stature, skeletal deformities, coarse facial features, and different degrees of hepatomegaly are among initial presentations of the disease. Notably, one of the patients described in this article, developed severe form of cardiomyopathy and another one, presented with nonimmune hydrops fetalis, both of which considered rare occurrences in the context of GS. Genetically, all patients had the similar genetic mutation confirmed by laboratory tests. A few patients have had their diagnoses made based upon family history alone.

Keywords: galactosialidosis; lysosomal storage diseases; pediatric metabolic diseases.

FIGURE 1

Typical facial features of GS (Patient‐7)

FIGURE 2

(A) Typical facial features of GS (Patient‐3). (B) Thoracolumbar kyphosis (Patient‐3). (C) Bilateral lower limb lymphedema (Patient‐3)

FIGURE 3

Typical facial features of GS (Patient‐5)