MRI and MRS findings in fucosidosis; a rare lysosomal storage disease

Ediz, Suna Sahin; Aralaşmak, Ayşe; Yılmaz, Temel Fatih; Toprak, Hüseyin; Yeşil, Gözde; Alkan, Alpay

doi:10.1016/j.braindev.2015.09.013

Cited by 19 publications

(14 citation statements)

References 8 publications

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“…The increased T1 signal intensity remains enigmatic. The increased T2 signal within the white matter has been shown to represent incomplete myelination in some cases but myelin loss with gliosis in others [17]. The white matter changes have been attributed to reversible hypomyelination in some cases and to white matter loss with gliosis in others [1,10,13].…”

Section: Discussionmentioning

confidence: 99%

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Diagnosis and Supportive Management of Fucosidosis: A Case Report

Kaur¹,

Dhaliwal²,

Raynes

et al. 2019

Cureus

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Fucosidosis is a lysosomal storage disease, resulting from a deficiency of the enzyme alpha-Lfucosidase. We present the case of an affected female with numerous manifestations, clinically and radiographically. In fucosidosis, advanced interventions are not always necessary to have rewarding outcomes. In fact, early diagnosis and management of the symptoms with a multisystemic supportive care approach can improve the quality of life and may also prolong the life of those patients diagnosed with fucosidosis.

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Section: Discussionmentioning

confidence: 99%

“…On MR spectroscopy, the peak at 3.8-3.9 ppm has been attributed to accumulating carbohydrate-containing macromolecules. A doublet peak at 1.2 ppm that inverts at TE 135 suggests fucose [17].…”

Section: Discussionmentioning

confidence: 99%

Diagnosis and Supportive Management of Fucosidosis: A Case Report

Kaur¹,

Dhaliwal²,

Raynes

et al. 2019

Cureus

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“…Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha -L- fucosidase, with accumulation of fucose in the tissues. Clinical features include progressive regression of milestones, spasticity, coarse facial features, angiokeratoma, and dysostosis multiplex 1-3. Fucosidosis has been classified into 2 major types.…”

Section: Answers and Discussionmentioning

confidence: 99%

“…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.…”

Section: Answers and Discussionmentioning

confidence: 99%

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Neuroregression, coarse features, and oligosaccharides in urines

et al. 2017

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Neuroregression, coarse features, and oligosaccharides in urines Clinical PresentationA 5-year-old boy, the product of a consanguineous marriage, presented with neuroregression; and spasticity since the age of one year. There were no seizures. His sister, aged 3 years had similar features. Examination revealed impaired cognition, generalized spasticity, brisk deep tendon reflexes, and bilateral extensor plantar responses. The head circumference was normal, and there was mild facial coarsening. There were no organomegaly, or angiokeratomas, and the ophthalmological examination was unremarkable. A brain MRI/MR spectroscopy was performed and is shown in (Figures 1 and 2).

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