Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

Abstract

Background: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles.

Case report: This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it's specific imaging findings.

Conclusions: Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease.

Keywords: Brain Diseases, Metabolic; Lysosomal Storage Diseases, Nervous System; Magnetic Resonance Imaging; Sandhoff Disease.

Figure 1

Rocker bottom foot, valgus and equinus deformity of the foot is demonstrated.

Figure 2

First MR examination at the age of 10 months demonstrates bilateral symmetric thalamic T1 hyperintensities on image (A) and T2 hypointensities on image (B) (arrows). Also delayed myelination and mild T2 signal increase in frontoparietal white matter are seen on image (B). Corpus callosum is spared.

Figure 3

Axial T2-weighted images in (A–C) and d reveal diffuse, symmetrical hyperintensity in the periventricular, deep, and subcortical white matter, dorsal thalami (A), the external (thick arrow) and extreme capsules, and cerebellar white matter Short T2 relaxation time is seen in the ventral thalamic nucleus, resulting in hypointensity. Right caudate nuclei and bilateral putamen appear swollen, and show hyperintense appearance (thin arrow). On image (D, E), hyperintense thalami (arrowhead) and an intact thin corpus callosum can be seen.