A Rare Case of Mucopolysaccharidosis

Choudhury, Ipsita; Tilak, Mona; Patra, Arun Kumar

doi:10.1007/s12291-013-0347-7

Cited by 3 publications

(4 citation statements)

References 13 publications

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“…Most previous reports showed that the onset age usually was around 1 or 2 years, except for MPS VII. 14,23,24 Concern to symptoms, in MPS I case, the patient had mental retardation, which was a sign of Hurler syndrome. The mental development begins to regress at about the age of 2.…”

Section: Discussionmentioning

confidence: 99%

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A case study of three patients with mucopolysaccharidoses in Hue Central Hospital

Hao

Diem

Duc

et al. 2020

SAGE Open Medical Case Reports

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Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various tissues, which interferes with cell function. We report three cases that were classified as Hurler—Mucopolysaccharidosis I, Morquio—Mucopolysaccharidosis IV A, and Maroteaux–Lamy—Mucopolysaccharidosis VI. Clinical presentations of these cases vary, depending on each type of enzyme defect. All the patients appeared healthy at birth, and symptoms appear at around 1 or 2 years. Clinical features, radiological findings, and especially enzyme assays have allowed us to establish a definitive diagnosis in these cases. These cases highlight that abnormal clinical symptoms, such as growth failure, coarse facial features, and joint problems, are key points for further investigation relating to mucopolysaccharidosis disease. However, in low- and middle-income countries, it is difficult to have a definitive diagnosis of one of the mucopolysaccharidoses due to lacking enzyme assays.

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Section: Discussionmentioning

confidence: 99%

“…Most previous reports showed that the onset age usually was around 1 or 2 years, except for MPS VII. 14,23,24…”

Section: Discussionmentioning

confidence: 99%

A case study of three patients with mucopolysaccharidoses in Hue Central Hospital

Hao

Diem

Duc

et al. 2020

SAGE Open Medical Case Reports

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“…Recently, ELISA has been used for quantification of Keratan sulfate in urine and blood in MPS type IVA patients. 27 The current clinical under trial drug for Morquio A syndrome is BMN 110 which is an enzyme replacement of GALNS. 27 …”

Section: Discussionmentioning

confidence: 99%

“… 27 The current clinical under trial drug for Morquio A syndrome is BMN 110 which is an enzyme replacement of GALNS. 27 …”

Section: Discussionmentioning

confidence: 99%

Morquio Syndrome Presenting with Dural Band Pathology: A Case Report

Gupta¹,

Sengar²,

Subramanian³

et al. 2020

J Lab Physicians

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Morquio syndrome is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which is required for the catabolism of glycosaminoglycans (namely, chondroitin-6-sulfate and keratan sulfate). Pathogenic accumulation of these glycosaminoglycans occurs throughout the body. The various organs and tissues affected are bones, cartilage, tendon, teeth, trachea and lungs, heart, cornea, skin and connective tissues.Here, we present a case of Morquio syndrome. A 16-year-old boy presented with multiple skeletal abnormalities, including cervicomedullary compression by dorsal dural band in foramen magnum. The dural band was resected during the surgery to relieve compression and sent for histopathological examination. This case report not only reviews the clinical features and shows rare dural band histopathological findings but also mentions a note on the future therapies of this syndrome.

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