Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder

Abstract

Fucosidosis is a rare genetic lysosomal storage disorder caused by a deficiency in alpha- L-fucosidase. We present a case of a 4-year, 11-month-old girl with developmental delay, as well as skeletal and brain abnormalities as shown on X-ray and MRI. Her spinal X- rays demonstrated lumbar kyphosis and anterior beaking of lumbar vertebral bodies. Lower iliac segment constriction, increased angulation of the acetabular roof, and widening of the ribs were apparent on abdominal X-ray. Her brain MRI illustrated symmetric T1 hyperintensity and T2 hypointensity of the bilateral globi pallidi. The case report highlights clinical and imaging findings of this rare disease.

Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice

“…Balance beam assessment is considered to be particularly effective in detecting early signs of basal ganglia dysfunction (Magen and Chesselet, 2014 ). Notably, alterations in pallidal and nigral signaling in brain MRI appear characteristic for fucosidosis patients in comparison to other LSDs (Provenzale et al, 1995 ; Galluzzi et al, 2001 ; Malatt et al, 2015 ).…”

Fucosidosis in a Chinese boy: a case report and literature review

“…Individuals with type 1 often die between the age of 5 and 10 years, whereas patients with type 2 might survive to the second decade, although rarely to the age of 30. 2,6,7 However, current opinion is that severity of the clinical disorder might exist on a continuum rather than two clear-cut distinct types as considered previously. 2,7 No relationship has been found between clinical severity and specific mutation or residual activity of alpha-L-fucosidase.…”

“…2,6,7 However, current opinion is that severity of the clinical disorder might exist on a continuum rather than two clear-cut distinct types as considered previously. 2,7 No relationship has been found between clinical severity and specific mutation or residual activity of alpha-L-fucosidase. 7 It is difficult to accurately classify our patient as being either type 1 or type 2, but we speculate he might be type 2 because most of his symptoms appeared after 8 months and the disease did not progress rapidly.…”

Neuroregression, coarse features, and oligosaccharides in urines

“…The highest peak at 3.8 is compatible with mannose and a doublet at 1.2 ppm, which invertsat long echotime, suggests fucose peak. The combination of imaging and MR spectroscopy findings is probably specific 1-2. Supportive diagnosis of fucosidosis also includes dysostosis multiplex; and high amounts of oligosaccharides in the urine 1-3.…”

“…Type 1 is characterized by an early onset, rapid and severe psychomotor regression, and death within the first decade of life. Type 2 is characterized by milder neurological phenotype, the development of angiokeratoma, and longer survival 1-2. Neuroimaging plays an important role in the diagnosis of fucosidosis.…”