scholarly journals Hurler-Scheie Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Scheie Syndrome

The diagnosis of metabolic storage disease in skin biopsies (a light-, electronmicroscopic, and analytical study)

1978 ◽  
Vol 36 (2) ◽  
pp. 648-649
Author(s):  
W. Jurecka ◽  
W. Gebhart ◽  
H. Lassmann
Keyword(s):  
Storage Disease ◽  
Hunter Syndrome ◽  
Histochemical Demonstration ◽  
Sweat Glands ◽  
Type I ◽  
Storage Material ◽  
Scheie Syndrome ◽  
Storage Products ◽  
Skin Biopsies ◽  
Type V

Diagnosis of metabolic storage disease can be established by the determination of enzymes or storage material in blood, urine, or several tissues or by clinical parameters. Identification of the accumulated storage products is possible by biochemical analysis of isolated material, by histochemical demonstration in sections, or by ultrastructural demonstration of typical inclusion bodies. In order to determine the significance of such inclusions in human skin biopsies several types of metabolic storage disease were investigated. The following results were obtained.In MPS type I (Pfaundler-Hurler-Syndrome), type II (Hunter-Syndrome), and type V (Ullrich-Scheie-Syndrome) mainly “empty” vacuoles were found in skin fibroblasts, in Schwann cells, keratinocytes and macrophages (Dorfmann and Matalon 1972). In addition, prominent vacuolisation was found in eccrine sweat glands. The storage material could be preserved in part by fixation with cetylpyridiniumchloride and was also present within fibroblasts grown in tissue culture.

scholarly journals Ocular Findings in a Patient with Scheie Syndrome

2020 ◽  
Vol 61 (6) ◽  
pp. 685-689
Author(s):  
Min Seong Kim ◽  
In Hwan Cho
Keyword(s):  
Ocular Findings ◽  
Scheie Syndrome

Markedly Elevated Intracranial Pressure Treated With Cranial Vault Expansion, Instead of CSF Shunting, in a Child With Hurler-Scheie Syndrome and Multiple Suture Craniosynostosis

2018 ◽  
Vol 56 (3) ◽  
pp. 395-399
Author(s):  
Jessica A. Ching ◽  
Jared S. Troy ◽  
Ernesto J. Ruas ◽  
Joshua M. Beckman ◽  
Gerald F. Tuite
Keyword(s):  
Cerebrospinal Fluid ◽  
Intracranial Pressure ◽  
Cranial Vault ◽  
Elevated Intracranial Pressure ◽  
Treatment Alternative ◽  
Unique Case ◽  
Shunt Placement ◽  
Scheie Syndrome ◽  
Csf Shunting ◽  
Viable Treatment

Despite a known association of mucopolysaccharidoses (MPS) and craniosynostosis, treatment of elevated intracranial pressure (ICP) in these patients is primarily cerebrospinal fluid (CSF) shunting. We present a unique case of Hurler-Scheie syndrome with multisuture craniosynostosis and elevated ICP, without ventriculomegaly, where elevated ICP was successfully treated with extensive cranial vault expansion and shunt placement was avoided. Patients with MPS should be evaluated for craniosynostosis, and calvarial vault expansion may be considered as a viable treatment alternative to CSF shunting for elevated ICP in select patients.

Association of hippocampus and amygdala volumes with neurocognitive and behavioral outcomes in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation

2018 ◽  
Vol 123 (2) ◽  
pp. S17
Author(s):  
Alia Ahmed ◽  
Elsa Shapiro ◽  
Kyle Rudser ◽  
Igor Nestrasil ◽  
Chester Whitley
Keyword(s):  
Behavioral Outcomes ◽  
Scheie Syndrome

Laronidase hypersensitivity and desensitization of mucopolysaccharidosis I (Scheie syndrome) patient

2016 ◽  
Vol 117 (2) ◽  
pp. S21-S22
Author(s):  
Carolina Aranda ◽  
Tatiana de Sá Pacheco C. Magalhães ◽  
José Francisco Franco ◽  
Luis Felipe C. Ensina ◽  
Alex E. de Lacerda ◽  
...  
Keyword(s):  
Syndrome Patient ◽  
Mucopolysaccharidosis I ◽  
Scheie Syndrome

Sinus complications in mucopolysaccharidosis I H/S (Hurler-Scheie syndrome)

1993 ◽  
Vol 26 (1) ◽  
pp. 79-87 ◽  
Author(s):  
Carol J. MacArthur ◽  
Richard Gliklich ◽  
Trevor J.I. McGill ◽  
Antonio Perez-Atayde
Keyword(s):  
Mucopolysaccharidosis I ◽  
Scheie Syndrome

Scheie Syndrome Diagnosed After Cerebral Infarction

2012 ◽  
Vol 21 (4) ◽  
pp. 330-332 ◽  
Author(s):  
Daiki Fujii ◽  
Yasuhiro Manabe ◽  
Tomotaka Tanaka ◽  
Syoichiro Kono ◽  
Yasuko Sakai ◽  
...  
Keyword(s):  
Cerebral Infarction ◽  
Scheie Syndrome

Pigmentary retinopathy as first manifestation in two cases of Scheie syndrome

2016 ◽  
Vol 117 (2) ◽  
pp. S116-S117
Author(s):  
Geoffrey Urbanski ◽  
Magalie Barth ◽  
Aline Gury ◽  
Stéphanie Leruez ◽  
Christophe Baufreton ◽  
...  
Keyword(s):  
Pigmentary Retinopathy ◽  
Scheie Syndrome
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