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Journal articles on the topic 'Hurler'

Author: Grafiati
Published: 4 June 2021
Last updated: 17 June 2025

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1

Gocer, Celil, and Fred H. Linthicum,. "Hurler Disease." Otology & Neurotology 25, no. 1 (2004): 81–82. http://dx.doi.org/10.1097/00129492-200401000-00016.

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2

Rao, Kalipatnam Seshagiri, Sudhir Adhikari, Sandeep Singh, Shankar Poudel, Sahisnuta Basnet, and Ganesh Bishwakarma. "Hurler Syndrome." Journal of Nepal Paediatric Society 36, no. 3 (2017): 295–97. http://dx.doi.org/10.3126/jnps.v36i3.16349.

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We report a case of Hurler syndrome in 10 years old boy diagnosed on the basis of classical clinical and radiological features. Early diagnosis, genetic counseling and regular follow up with recent modalities of treatment can decrease mortality significantly and the child may grow normally.J Nepal Paediatr Soc 2016;36(3):295-297
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3

Chamoles, Néstor A., Mariana B. Blanco, Daniela Gaggioli, and Carina Casentini. "Hurler-like Phenotype." Clinical Chemistry 47, no. 12 (2001): 2098–102. http://dx.doi.org/10.1093/clinchem/47.12.2098.

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Abstract Background: Clinical differentiation among mucopolysaccharidosis, oligosaccharidosis, and mucolipidosis II and III is difficult. We describe methods for the assay of 8 lysosomal enzymes in dried blood spots on filter paper that allow screening for 12 lysosomal storage diseases that present with a Hurler-like phenotype. Methods: To test tubes containing 3-mm blood spots, we added elution liquid and fluorescent or radioactive substrate solution. After incubation at 37 °C, the reaction was terminated by the addition of a stop buffer. The amount of hydrolyzed product was compared with a calibrator to allow the quantification of enzyme activity. Sample stability was studied during storage for 21 days and during shipment of samples. We measured enzyme activities in 85 healthy controls (35 newborn, 50 adult), 57 patients suffering from 11 lysosomal storage diseases, and 46 obligate carriers. Results: Intra- and interassay CVs were <9% and <15%, respectively. Mean activity losses during transportation or storage for up to 21 days at 4 °C were ≤27%. Enzyme activities in all patients were outside the ranges of values seen for carriers and controls. Conclusions: The described methodology distinguishes between patients and controls with samples that are sufficiently stable to be mailed to the testing laboratory.
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4

Buchinskaya, Nataliya V., Anastasiya O. Vechkasova, Ekaterina E. Shishunova, et al. "Differential Diagnosis of Hurler and Hurler–Scheie Syndromes: Clinical Case." Current Pediatrics 24, no. 2 (2025): 105–11. https://doi.org/10.15690/vsp.v24i2.2883.

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Background. Mucopolysaccharidosis type I (MPS I) is a disease known for over 100 years. Implementation of new management approaches for MPS I requires from doctor to clearly differentiate subtypes of this disease for the effective and rational use of treatment methods. Clinical case description. Girl B. with early MPS I onset during the neonatal period. Symptoms of musculoskeletal system damage were the following: feet adduction and hip joints dysplasia. Further follow-up at the age of 6 months has shown linear growth retardation, umbilical hernia, and exudative otitis. Psychomotor development up to 1 year of age was delayed. Coarse facial features by the age 1.5 years along with orthopedic problems, exudative otitis, and umbilical hernia led to mucopolysaccharidosis diagnosis. The diagnosis of mucopolysaccharidosis type I was established according to clinical findings, enzyme diagnostics (significant decrease in lysosomal enzyme alpha-L-iduronidase activity — 0.26 μmol/l/h; reference values from 1.96), and molecular genetic testing (pathogenic variant c.208C>T (Gln70Ter) in exon 2 and nucleotide variant of unknown clinical value c.1524G>C (p.Glu508Asp) in exon 10 of IDUA gene in compound heterozygous state). Echocardiography has revealed structural changes in the mitral valve and minimal aortic insufficiency. Abdominal ultrasound has revealed signs of hepatomegaly, hydrocalycosis, right-side pyelectasia, kidneys’ sizes lesser than the age norms. Abdominal magnetic resonance imaging has shown simple kidney cysts. Conclusion. The major feature of this clinical case is the complexity of differential diagnosis between the severe form of MPS I, Hurler syndrome, and milder form, Hurler–Scheie syndrome. Molecular genetic testing has revealed the presence of the frequent pathogenic variant c.208C>T (Gln70Ter) in the IDUA gene associated with severe disease course and nucleotide variant c.1524G>C (p.Glu508Asp) with undefined clinical significance, thus, additional examination is necessary. Functional analysis of the novel variant is required to establish its role in protein function. It will help more precisely determine the disease form and predict its severity. Combination of MPS I and polycystic kidney disease in the proband is unique case.
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5

Tam, David A. "Microcephaly in Hurler Syndrome." Clinical Pediatrics 36, no. 1 (1997): 51–52. http://dx.doi.org/10.1177/000992289703600107.

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6

Taylor, Colm, Philip Brady, Ann O'Meara, David Moore, Frank Dowling, and Esmond Fogarty. "Mobility in Hurler Syndrome." Journal of Pediatric Orthopaedics 28, no. 2 (2008): 163–68. http://dx.doi.org/10.1097/bpo.0b013e3181649e25.

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7

Gordon, Neil. "THE PSEUDO - HURLER SYNDROMES." Developmental Medicine & Child Neurology 20, no. 3 (2008): 383–87. http://dx.doi.org/10.1111/j.1469-8749.1978.tb15230.x.

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8

van den Broek, Brigitte T. A., Jaap van Doorn, Charlotte V. Hegeman, et al. "Hurdles in treating Hurler disease: potential routes to achieve a “real” cure." Blood Advances 4, no. 12 (2020): 2837–49. http://dx.doi.org/10.1182/bloodadvances.2020001708.

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Abstract Mucopolysaccharidoses (MPSs) are multiorgan devastating diseases for which hematopoietic cell transplantation (HCT) and, to a lesser extent, enzyme replacement therapy have substantially altered the course of the disease. Furthermore, they have resulted in increased overall survival, especially for Hurler disease (MPS-1). However, despite the identification of clinical predictors and harmonized transplantation protocols, disease progression still poses a significant burden to patients, although at a slower pace. To design better therapies, we need to understand why and where current therapies fail. In this review, we discuss important aspects of the underlying disease and the disease progression. We note that the majority of progressive symptoms that occur in “hard-to-treat” tissues are actually tissues that are difficult to reach, such as avascular connective tissue or tissues isolated from the circulation by a specific barrier (eg, blood-brain barrier, blood-retina barrier). Although easily reached tissues are effectively cured by HCT, disease progression is observed in these “hard-to-reach” tissues. We used these insights to critically appraise ongoing experimental endeavors with regard to their potential to overcome the encountered hurdles and improve long-term clinical outcomes in MPS patients treated with HCT.
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9

Filippova, V. V., A. A. Gulenok, I. V. Levchenko, and T. V. Matafonova. "Common rare diseases: Hurler syndrome." Public health of the Far East Peer-reviewed scientific and practical journal 86, no. 4 (2020): 91–94. http://dx.doi.org/10.33454/1728-1261-2020-4-91-94.

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10

Oliveira Junior, Wilson Maia, Therezinha de Jesus Collares de Carvalho Paiva, and Daniela Dos Santos de Souza. "Manifestações da Síndrome de Hurler." ConScientiae Saúde 8, no. 2 (2009): 317–26. http://dx.doi.org/10.5585/conssaude.v8i2.1431.

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A Síndrome de Hurler é uma doença rara, decorrente da deficiência genética de enzimas lisossômicas responsáveis pela hidrólise de mucopolissacarídeos, acarretando o acúmulo dessa macromolécula em células do tecido conectivo, gerando, como consequência, várias características clínicas clássicas de tal síndrome. Os portadores apresentam deficiência visual (opacificação da córnea), hepatoesplenomegalia, retardo mental, doença cardíaca, alterações gengivais, macroglossia, retardo de erupção dentária, vários dentes impactados. As características mais comuns são impactação dentária e retardo de erupção. As alterações gengivais observadas pelos autores foram a fibrose e a hiperplasia gengival, decorrentes da higienização precária e respiração bucal. Em relação aos aspectos histológicos foram observadas características como acúmulo intracelular de mucopolissacarídeo em várias células do organismo, sendo afetados o fígado, o baço, o coração, a cartilagem, os ossos, bem como os fibroblastos que apresentam aspecto de células “claras” chamadas também de células de gárgula. Neste relato clínico, salienta-se a necessidade de fazer mais pesquisas sobre o assunto e fornecer aos cirurgiões-dentistas uma visão mais ampla a respeito da doença.
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11

Sharma, Rajaram, Vikash Sharma, Tapendra Tiwari, and Saurabh Goyal. "Hurler holes in Hunter syndrome." BMJ Case Reports 14, no. 11 (2021): e246765. http://dx.doi.org/10.1136/bcr-2021-246765.

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12

Thomas, S., and S. Tandon. "Hurler syndrome: a case report." Journal of Clinical Pediatric Dentistry 24, no. 4 (2000): 335–38. http://dx.doi.org/10.17796/jcpd.24.4.ku653u75nv5vt735.

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Hurler syndrome is an inherited disorder of mucopolysaceharide metabolism, which is caused by a defect in genetically controlled pathways of lysosomal degradation. It represents the classical prototype of mucopolysaccharide disorder. An interesting case of a three and a half-year old boy with a rare combination of skeletal, neurological, ophthalmologic, and dental findings is presented. It is a rare syndrome with a very low prevalence of 1:100000 births and as such the clinician should be aware of this syndrome.
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13

Weisstein, Jason S., Eliana Delgado, Lynne S. Steinbach, Kim Hart, and Seymour Packman. "Musculoskeletal Manifestations of Hurler Syndrome." Journal of Pediatric Orthopaedics 24, no. 1 (2004): 97–101. http://dx.doi.org/10.1097/01241398-200401000-00019.

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14

Kiely, Bridget T., Michele D. Poe, and Maria L. Escolar. "Natural history of Hurler syndrome." Molecular Genetics and Metabolism 117, no. 2 (2016): S67. http://dx.doi.org/10.1016/j.ymgme.2015.12.320.

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15

Grech, R., L. Galvin, A. O'Hare, and S. Looby. "Hurler syndrome (Mucopolysaccharidosis type I)." Case Reports 2013, mar25 1 (2013): bcr2012008148. http://dx.doi.org/10.1136/bcr-2012-008148.

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16

Hinek, Aleksander, and Sarah E. Wilson. "Impaired Elastogenesis in Hurler Disease." American Journal of Pathology 156, no. 3 (2000): 925–38. http://dx.doi.org/10.1016/s0002-9440(10)64961-9.

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17

RYLOVA, N. V., A. A. SHAKIROVA, A. R. KHUSAINOVA, et al. "Mucopolysaccharidosis type I ― Hurler syndrome." Practical Medicine 18, no. 1 (2020): 126–29. http://dx.doi.org/10.32000/2072-1757-2020-1-126-129.

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18

Vetere, Arlene. "Mark Rapley – Champion Banana Hurler." Clinical Psychology Forum 1, no. 243 (2013): 32–33. http://dx.doi.org/10.53841/bpscpf.2013.1.243.32.

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19

Babushkin, A. E., E. G. Khusnutdinova, E. K. Ryskulova, and R. M. Mukhametshina. "Rare cases of mucopolysaccharidosis type I in children with Hurler and Hurler-Scheie syndromes." Russian Ophthalmological Journal 11, no. 1 (2018): 53–58. http://dx.doi.org/10.21516/2072-0076-2018-11-1-53-58.

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20

Kletke, Stephanie N., Ajoy Vincent, Eoghan Millar, and Asim Ali. "Electroretinographic and optical coherence tomographic characteristics of mucopolysaccharidosis type I Hurler and I Hurler-Scheie." Journal of American Association for Pediatric Ophthalmology and Strabismus 22, no. 4 (2018): e28. http://dx.doi.org/10.1016/j.jaapos.2018.07.098.

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21

King, Kelly, Kyle Rudser, Victor Kovac, et al. "Attention and corpus callosum volumes in individuals with Hurler and Hurler-Scheie syndromes and controls." Molecular Genetics and Metabolism 111, no. 2 (2014): S60—S61. http://dx.doi.org/10.1016/j.ymgme.2013.12.133.

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22

Tzetzi, D., R. Hamilton, P. H. Robinson, and G. N. Dutton. "Negative ERGs in mucopolysaccharidoses (MPS) Hurler–Scheie (I-H/S) and Hurler (I-H)-syndromes." Documenta Ophthalmologica 114, no. 3 (2007): 153–58. http://dx.doi.org/10.1007/s10633-007-9047-z.

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23

Dusing, Stacey C., Deborah E. Thorpe, Vicki S. Mercer, Angela E. Rosenberg, Michele D. Poe, and Maria L. Escolar. "Temporal and Spatial Gait Characteristics of Children With Hurler Syndrome After Umbilical Cord Blood Transplantation." Physical Therapy 87, no. 8 (2007): 978–85. http://dx.doi.org/10.2522/ptj.20060196.

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Background and Purpose: Recent medical advances are increasing the life expectancy of children with Hurler syndrome; however, little is known about the motor abilities of children who have received these medical interventions. The purpose of this study was to describe the temporal and spatial gait parameters of children with Hurler syndrome following umbilical cord blood transplantation (UCBT) in reference to gait parameters of children with typical development. Subjects: The group with Hurler syndrome consisted of 18 children between 19.6 and 96.8 months of age who were examined 1 to 4 times between 2.9 and 72.2 months after UCBT. Four hundred thirty-eight children with typical development between the ages of 14.4 and 131.8 months served as a comparison group. Methods: Temporal and spatial gait parameters were assessed using a GAITRite electronic walkway. Step length, gait speed, and cadence were normalized for body stature. Results: Children with Hurler syndrome had slower gait speeds and shorter step lengths than children with typical development at 2 and 3 years of age. Time since transplantation was a predictor of gait speed and step length. Discussion and Conclusions: Children with Hurler syndrome after UCBT were delayed in maturation of temporal and spatial gait parameters.
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24

Checcaglini, Isabella. "J'aurais voulu hurler, et j'étais muet." Lignes 18, no. 3 (2005): 192. http://dx.doi.org/10.3917/lignes.018.0192.

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25

Peters, Charles, Elsa G. Shapiro, and William Krivit. "Hurler syndrome: Past, present, and future." Journal of Pediatrics 133, no. 1 (1998): 7–9. http://dx.doi.org/10.1016/s0022-3476(98)70170-2.

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26

Schiro, James A., Susan B. Mallory, Laurie Demmer, S. Bruce Dowton, and Markham C. Luke. "Grouped papules in Hurler-Scheie syndrome." Journal of the American Academy of Dermatology 35, no. 5 (1996): 868–70. http://dx.doi.org/10.1016/s0190-9622(96)90107-3.

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27

Donaldson, M. D. C., C. A. Pennock, P. J. Berry, A. W. Duncan, J. E. Cawdery, and J. V. Leonard. "Hurler syndrome with cardiomyopathy in infancy." Journal of Pediatrics 114, no. 3 (1989): 430–32. http://dx.doi.org/10.1016/s0022-3476(89)80565-7.

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28

Brown, J. N., and T. W. D. Smith. "Plantar fibromatosis in Hurler-Scheie's syndrome." Foot 6, no. 1 (1996): 39–40. http://dx.doi.org/10.1016/s0958-2592(96)90060-7.

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29

Davies, D. L., G. N. Dutton, J. Farquharson, R. W. Logan, and J. L. Tolmie. "Hurler—Scheie Phenotype Associated with Consanguinity." Journal of Inherited Metabolic Disease 12, S2 (1989): 365–68. http://dx.doi.org/10.1007/bf03335424.

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30

Milagros, Amorín, Carlin Andrea, and Prötzel Ana. "Mucopolysaccharidosis I, Hurler syndrome: A case report." Arch Argent Pediatr 110, no. 5 (2015): e103-e106. https://doi.org/10.5281/zenodo.28107.

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Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme α-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme replacement therapy the patient has shown improvement of visceral symptoms, but the neurological damage continuous in progress.
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31

Pan, Chendong, Matthew S. Nelson, Morayma Reyes, et al. "Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells." Blood 106, no. 6 (2005): 1956–64. http://dx.doi.org/10.1182/blood-2005-02-0657.

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Abstract In mucopolysaccharidosis-I (MPS-I), α-L-iduronidase deficiency leads to progressive heparan sulfate (HS) and dermatan sulfate (DS) glycosaminoglycan (GAG) accumulation. The functional consequences of these accumulated molecules are unknown. HS critically influences tissue morphogenesis by binding to and modulating the activity of several cytokines (eg, fibroblast growth factors [FGFs]) involved in developmental patterning. We recently isolated a multipotent progenitor cell from postnatal human bone marrow, which differentiates into cells of all 3 embryonic lineages. The availability of multipotent progenitor cells from healthy volunteers and patients with MPS-I (Hurler syndrome) provides a unique opportunity to directly examine the functional effects of abnormal HS on cytokine-mediated stem-cell proliferation and survival. We demonstrate here that abnormally sulfated HS in Hurler multipotent progenitor cells perturb critical FGF-2–FGFR1-HS interactions, resulting in defective FGF-2–induced proliferation and survival of Hurler multipotent progenitor cells. Both the mitogenic and survival-promoting activities of FGF-2 were restored by substitution of Hurler HS by normal HS. This perturbation of critical HS–cytokine receptor interactions may represent a mechanism by which accumulated HS contributes to the developmental pathophysiology of Hurler syndrome. Similar mechanisms may operate in the pathogenesis of other diseases where structurally abnormal GAGs accumulate.
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32

Ben-Yoseph, Y., M. Potier, D. A. Mitchell, B. A. Pack, S. B. Melançon, and H. L. Nadler. "Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy." Biochemical Journal 248, no. 3 (1987): 697–701. http://dx.doi.org/10.1042/bj2480697.

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The size of the mutant N-acetylglucosamine 1-phosphotransferase in Golgi membranes from fibroblasts of patients with I-cell disease and classical pseudo-Hurler polydystrophy, which comprised one complementation group characterized by deficiency towards both artificial and natural acceptor substrates, was significantly smaller than the normal enzyme, 151-174 kDa compared with 225-278 kDa. The size of the mutant enzyme from cell lines of patients with variant forms of pseudo-Hurler polydystrophy, which comprised another complementation group characterized by normal activity towards mono- and oligo-saccharide substrates, was significantly larger than the normal enzyme, ranging from 321 to 356 kDa in two families and from 528 to 547 kDa in a third family. These findings suggest that the mutations in I-cell disease and classical pseudo-Hurler polydystrophy result in a missing enzyme component, which renders the enzyme catalytically inefficient toward any type of acceptor substrate. In contrast, the mutations in the variant forms of pseudo-Hurler polydystrophy produce a larger enzyme molecule which is active toward small substrates but is incapable of binding natural lysosomal glycoprotein substrates.
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33

Patel, Anisha, Gunosindhu Chakraborthy, S. P. Srinivas Nayak, and R. Shivani. "A rare case report on Hurler syndrome with umbilical hernia." BOHR International Journal of General and Internal Medicine 2, no. 1 (2022): 19–21. http://dx.doi.org/10.54646/bijgim.2023.14.

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Hurler syndrome is also known as MPH I. A hereditary sickness of the lysosome is a result of a deficiency in the enzyme alpha-L-iduronidase, which breaks down glycosaminoglycans (GAG or mucopolysaccharides). As a result, tissue harm from dermatan sulfate and heparin sulfate worsens over time until death. Umbilical hernias are ventral hernias that arise at or across the umbilicus. This situation of a case report describes the surgical treatment of an umbilical hernia in a 4-year-old pediatric patient, a known case of Hurler syndrome. The patient received treatment for an umbilical hernia, a confirmatory test was performed for Hurler syndrome, and the only patient complaint related to it—corneal clouding—was treated.
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34

Rohatgi, Sunidhi, Manan Shah, and Vraj Bhatt. "Hurler syndrome-a case report of infrequently encountered diagnosis." International Journal of Research in Medical Sciences 11, no. 1 (2022): 378. http://dx.doi.org/10.18203/2320-6012.ijrms20223668.

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Hurler syndrome also known as mucopolysaccharidosis type 1H (MPS-1H) or gargoylism is an autosomal recessive disorder due to defective gene which encodes for enzyme alpha L-iduronidase (IUDA) located on chromosome 4p16.3 (gene encoding protein iduronidase). In the present case, 4-year Down’s syndrome child with coarse facial features, hypothyroidism presented with umbilical hernia. Clinical diagnosis of Hurler syndrome was made corelating with clinical features, X-ray findings.
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35

Behera, Binodini, DK Jena, R. Chhetia, and J. Vijayashree. "Hurler syndrome with a tuft of hair." Indian Journal of Dermatology, Venereology and Leprology 72, no. 2 (2006): 147. http://dx.doi.org/10.4103/0378-6323.25644.

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36

Tandon, V., J. B. Williamson, and R. A. Cowie, et al. "SPINAL PROBLEMS IN MUCOPOLYSACCHARIDOSIS I (HURLER SYNDROME)." Journal of Pediatric Orthopaedics 17, no. 3 (1997): 418. http://dx.doi.org/10.1097/01241398-199705000-00059.

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37

SHINKAI, H., K. KATAGIRI, Y. ISHII, and S. TAKAYASU. "Connective tissue naevus with pseudo-Hurler polydystrophy." British Journal of Dermatology 130, no. 4 (1994): 528–33. http://dx.doi.org/10.1111/j.1365-2133.1994.tb03392.x.

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38

Panteliadis, Christos P., Eliza D. Karatza, Maria K. Tzitiridou, Dimitrios E. Koliouskas, and Kleomenis S. Spiroglou. "Lissencephaly and mongolian spots in hurler syndrome." Pediatric Neurology 29, no. 1 (2003): 59–62. http://dx.doi.org/10.1016/s0887-8994(03)00041-9.

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39

Touw, C. M. L., M. Aldenhoven, P. M. van Hasselt, et al. "Presenterende symptomen bij het syndroom van Hurler." Tijdschrift voor kindergeneeskunde 78, no. 4 (2010): 149–54. http://dx.doi.org/10.1007/bf03089895.

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40

Watts, R. W. E., E. Spellacy, and J. Hume Adams. "Neuropathological and clinical correlations in hurler disease." Journal of Inherited Metabolic Disease 9, no. 3 (1986): 261–72. http://dx.doi.org/10.1007/bf01799658.

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41

Schroeder, Luke, Elizabeth Braunlin, Paul Orchard, and Juan Carlos Manivel. "Coronary artery disease in non-Hurler mucopolysaccharidosis." Molecular Genetics and Metabolism 108, no. 2 (2013): S82. http://dx.doi.org/10.1016/j.ymgme.2012.11.219.

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42

Tandon, V., J. B. Williamson, R. A. Cowie, and J. E. Wraith. "SPINAL PROBLEMS IN MUCOPOLYSACCHARIDOSIS I (HURLER SYNDROME)." Journal of Bone and Joint Surgery. British volume 78-B, no. 6 (1996): 938–44. http://dx.doi.org/10.1302/0301-620x.78b6.0780938.

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43

Goldberg, G., and P. Grützner. "Morbus Hurler-Scheie-Compound bei drei Geschwistern." Klinische Monatsblätter für Augenheilkunde 187, no. 08 (1985): 120–23. http://dx.doi.org/10.1055/s-2008-1051001.

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44

Touw, C. M. L., M. Aldenhoven, P. M. Hasselt, et al. "Presenterende symptomen bij het syndroom van Hurler." Tijdschrift voor kindergeneeskunde 78, no. 4 (2011): 138–42. http://dx.doi.org/10.1007/bf03555585.

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45

Grigull, L., A. Beilken, T. Lücke, et al. "Blutstammzelltransplantation bei Mukopolysaccharidose Typ 1H (Morbus Hurler)." Monatsschrift Kinderheilkunde 154, no. 1 (2006): 49–56. http://dx.doi.org/10.1007/s00112-004-0965-5.

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46

Adachi, K., and R. A. Chole. "Management of Tracheal Lesions in Hurler Syndrome." Archives of Otolaryngology - Head and Neck Surgery 116, no. 10 (1990): 1205–7. http://dx.doi.org/10.1001/archotol.1990.01870100099022.

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47

Pristanskova, E. A., K. I. Kirgizov, S. V. Mikhaylova, et al. "HURLER SYNDROME: 15 YEARS OF HEMATOPOIETIC STEM CELL TRANSPLANTATION WITH HURLER SYNDROME AT THE RUSSIAN CHILDREN’S CLINICAL HOSPITAL." Pediatria. Journal named after G.N. Speransky 98, no. 6 (2019): 188–94. http://dx.doi.org/10.24110/0031-403x-2019-98-6-188-194.

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48

Kubaski, Francyne, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, et al. "Mucopolysaccharidosis Type I." Diagnostics 10, no. 3 (2020): 161. http://dx.doi.org/10.3390/diagnostics10030161.

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Abstract:
Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediate form as Hurler–Scheie, and the most attenuated form is known as Scheie syndrome. Phenotype seems to be largely influenced by genotype. Patients usually develop several somatic symptoms such as abdominal hernias, extensive dermal melanocytosis, thoracolumbar kyphosis odontoid dysplasia, arthropathy, coxa valga and genu valgum, coarse facial features, respiratory and cardiac impairment. The diagnosis is based on the quantification of α-l-iduronidase coupled with glycosaminoglycan analysis and gene sequencing. Guidelines for treatment recommend hematopoietic stem cell transplantation for young Hurler patients (usually at less than 30 months of age). Intravenous enzyme replacement is approved and is the standard of care for attenuated—Hurler–Scheie and Scheie—forms (without cognitive impairment) and for the late-diagnosed severe—Hurler—cases. Intrathecal enzyme replacement therapy is under evaluation, but it seems to be safe and effective. Other therapeutic approaches such as gene therapy, gene editing, stop codon read through, and therapy with small molecules are under development. Newborn screening is now allowing the early identification of MPS I patients, who can then be treated within their first days of life, potentially leading to a dramatic change in the disease’s progression. Supportive care is very important to improve quality of life and might include several surgeries throughout the life course.
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49

Vashakmadze, Nato D., Mikhail M. Kostik, Nataliya V. Zhurkova, Nataliya V. Buchinskaia, Ekaterina Yu Zakharova, and Margarita A. Soloshenko. "Articular Syndrome Characteristics in Children with Mucopolysaccharidosis Type I." Current Pediatrics 20, no. 6s (2021): 567–75. http://dx.doi.org/10.15690/vsp.v20i6s.2364.

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Background. Mucopolysaccharidosis type I is disease from the group of lysosomal storage disease developing due to mutations in the IDUA gene. It leads to the accumulation of glycosaminoglycans (GAGs) in organs and tissues. Joints damage in this disease is systemic and progressive.Objective. The aim of the study. Nowadays, relevant issue is to investigate the effects of various types of pathogenetic therapy on the state of the osteoarticular system in patients with severe and mild phenotypes of MPS I to prevent further progression of joint pathology.Methods. The study included 46 patients diagnosed with “mucopolysaccharidosis type I”. 35 children had severe phenotype (Hurler syndrome) and 11 — with mild phenotypes (Hurler-Scheie and Scheie syndromes). The onset age of clinical manifestations in osteoarticular system, the state of large and small joints, and the presence of cervical stenosis according to the therapy were evaluated in these patients.Results. The osteoarticular system pathology can be usually revealed in all patients with MPS I, in both mild and severe phenotypes. The contractures of shoulder, ulnar, wrist, and small hand joints have been revealed in most patients with Hurler syndrome, regardless of the administered therapy. Hip joints pathology was observed in children who was administered with: enzyme replacement therapy (ERT) — in 46.7% of cases, hematopoietic stem cell transplantation (HSCT) in combination with ERT — in 34.4% of cases. Patients with Hurler syndrome administered with HSCT in combination with ERT had cervical stenosis statistically significantly more rarely (p = 0.018) compared to patients treated with ERT only. Patients with Hurler syndrome who were on ERT had statistically significantly lower growth rates than patients after HSCT in combination with ERT. Lesions in ulnar, wrist, knee and small hand joints were the most common in children with mild phenotypes (in 90% of cases).Conclusion. Combined therapy (HSCT and ERT) in patients with Hurler syndrome reduces severe manifestations in osteoarticular system, including children with a pathogenic nucleotide variant c.208C>T in a homozygous state.
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Sheikh, Sadaf Saleem, Dipak Kumar Yadav, and Ayesha Saeed. "Case Report: Hurler syndrome (Mucopolysaccharidosis Type 1) in a young female patient." F1000Research 9 (May 15, 2020): 367. http://dx.doi.org/10.12688/f1000research.23532.1.

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Hurler syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism. Here, we present the case of a young female patient who presented with features of respiratory distress. In addition, the patient had gingival hypertrophy, spaced dentition, misaligned eruptive permanent dentition, microdontia, coarse facial features, low set ears, depressed nasal bridge, distended abdomen, pectus carinatum, umbilical hernia and J-shaped Sella Turcica on an X-ray of the skull. A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made. The patient was kept on ventilator support from the third day; however, she died on the fifth day of admission. Enzyme replacement modality of treatment can increase a patient's survival rate if an early diagnosis can be made. To the best of our knowledge, only a few cases of Hurler syndrome have been reported in Pakistan.
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