Hurler syndrome (Mucopolysaccharidosis type I)

Grech, Reuben; Galvin, Leanne; O’Hare, Alan; Looby, Seamus

doi:10.1136/bcr-2012-008148

Cited by 6 publications

(9 citation statements)

References 4 publications

(3 reference statements)

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“…Neurofibrin production is a problem that has been associated with neurofibromatosis ( 24 ). Defects in 11 enzymes are involved in mucopolysaccharidosis ( 27 , 28 ). Fibrillin-1 (FBN1) and elastin are the two main protein components of elastic fibers and because scoliosis is common in patients with Marfan syndrome, some authors have suggested that FBN1 gene mutations confer a greater risk of vertebral deformity, compared to mutations in the elastin locus ( 19 ).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Damasceno¹,

Cristante²,

Marcon³

et al. 2014

Clinics

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OBJECTIVE:This study assessed the prevalence of scoliosis and the patterns of scoliotic curves in patients with Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a chromosome 7q11.23 deletion in a region containing 28 genes, with the gene encoding elastin situated approximately at the midpoint of the deletion. Mutation of the elastin gene leads to phenotypic changes in patients, including neurodevelopmental impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, urological dysfunctions, and bone and joint dysfunctions.METHODS:A total of 41 patients diagnosed with Williams-Beuren syndrome, who were followed up at the genetics ambulatory center of a large referral hospital, were included in the study. There were 25 male subjects. The patients were examined and submitted to radiographic investigation for Cobb angle calculation.RESULTS:It was observed that 14 patients had scoliosis; of these 14 patients, 10 were male. The pattern of deformity in younger patients was that of flexible and simple curves, although adults presented with double and triple curves. Statistical analysis showed no relationships between scoliosis and age or sex.CONCLUSION:This study revealed a prevalence of scoliosis in patients with Williams-Beuren syndrome of 34.1%; however, age and sex were not significantly associated with scoliosis or with the severity of the curves.

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Section: Discussionmentioning

confidence: 99%

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Damasceno¹,

Cristante²,

Marcon³

et al. 2014

Clinics

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“…5, c), [16]. However, the beaking is anteroinferior in Hurler's syndrome (Mucopolysaccharidosiss I) [17], (Fig. 5, d).…”

Section: Spine X-ray Clue Signsmentioning

confidence: 93%

Skeletal Dysplasia: Approach to Simplify Diagnosis, Looking for Radiographic Clue Signs

Tabban¹,

Salem

2022

AJMAH

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Skeletal dysplasia is a heterogeneous group of disorders affecting the growth of bones and cartilage. Diagnosis can be difficult for many reasons; they are over 400 diseases, and some are rare and might have atypical presentation when clinical manifestations and radiological findings might not match the classical picture of the specific disorder. The final diagnosis of a skeletal dysplasia is a combined workup that includes clinical examination, family history, radiological assessment (skeletal survey and other investigations), and finally the laboratory, molecular and genetic assessment. These all steps require tertiary centers, therefore, the primary clinical practice would require a tool-kit to help identify the most common skeletal dysplasia easily and identify the most important features of uncommon or rare disorders. The combined clinical assessment and radiological assessment can together reach this goal. The aim of this article is to spotlight on few important checkpoints to help the clinician and radiologist to narrow the differential diagnosis in the primary evaluation before the referral, if available, for molecular and genetic study. This article will focus on essential initial steps in diagnosis and some clue diagnostic features in the skeletal survey images that are classic for the most common disorders.

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“…Mostly diagnosed on the clinical phenotype and enzyme assays, this group of disorders shows typical changes in spine radiograph; as a part of “dysostosis multiplex.” Usual imaging findings include variable platyspondyly, anterior vertebral beaking, odontoid hypoplasia, and maintained/increased intervertebral disc height [ Figure 7 ]. [ 11 ] The beaking is in anteroinferior location in MPS type 1 (Hurler's syndrome)[ 12 and central in MPS type 4 (Morquio syndrome). [ 13 ] Other imaging findings are listed in Table 1 .…”

Section: Specific Disease Entitiesmentioning

confidence: 99%

Spine radiograph in dysplasias: A pictorial essay

Gabra

Jana

Naranje

et al. 2020

Indian Journal of Radiology and Imaging

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Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more value as a part of the complete skeletal survey. In this article we will discuss about a few common lethal and non-lethal skeletal dysplasias and their characteristic imaging findings; primarily focusing on the spine radiograph.

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Hurler syndrome (Mucopolysaccharidosis type I)

Cited by 6 publications

References 4 publications

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Skeletal Dysplasia: Approach to Simplify Diagnosis, Looking for Radiographic Clue Signs

Spine radiograph in dysplasias: A pictorial essay

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