Diagnosis and Supportive Management of Fucosidosis: A Case Report

Abstract

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.

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

“…There is evidence of hypomyelination, with extensive, confluent, progressive, and symmetric signal anomaly in the periventricular and subcortical white matter [ 28 , 66 , 70 , 78 , 79 ]. Apart from the white matter changes, the grey matter changes were described in fucosidosis and are characterized by signal changes in the globi pallidi [ 15 , 28 , 66 , 78 , 79 , 80 ]. This unique-for-fucosidosis feature manifests as marked hypointensity on T2/FLAIR sequences, and hyperintensity on T1 sequences [ 28 , 66 , 76 , 79 ].…”

“…Another modality, MS spectroscopy, typically shows a decreased N-acetyl aspartate (NAA)/choline ratio and a characteristic abnormal peak at 3.8 ppm [ 28 , 66 ] and a double peak at 1.2 ppm [ 80 ]. The level of N–acetylaspartate and creatinine ratio was shown be decreased with an unusual lactic acid peak at 1.33 ppm in MRI spectra in the bilateral basal ganglia and posterior limb of internal capsule [ 67 ].…”

A case of type II fucosidosis-diagnosed with neuroradiological and dysmorphological findings

“…Hematopoietic stem cell transplantation (HSCT) in the early stage of the disease may be useful and in advanced cases, symptomatic and supportive treatment is needed. 5 This case demonstrates that a high index of suspicion is needed for diagnosis of fucosidosis and it should be suspected in presence of dysmorphological and radiological signs.…”

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

“…Less common findings include hepatomegaly (20–40%), splenomegaly (25%), cardiomegaly, or elevated sweat sodium chloride (especially in severe forms) [ 1 , 20 , 21 ].…”