DermKnowledgeBASE: Hurler scheie Syndrome

Hurler scheie Syndrome

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The text is the summary of recent articles on Hurler scheie Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.


This Deficiency leads to the accumulation of GAGs in several organs [1]. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurler syndrome), intermediate (Hurler-Scheie syndrome), and mild (Scheie syndrome) - none of which is determined by residual enzyme activity [2]. Only a limited amount of reports are dedicated to the Cardiac Surgical management of mucopolysaccharidoses [3]. Patients who were confirmed to be suffering from mucopolysaccharidosis were included in the study [4]. It is a rare, Autosomal recessive disorder caused by a deficiency of alpha-L-iduronidase [5].

The clinical manifestations are facial dysmorphism, hepatosplenomegaly, upper airway obstruction, skeletal deformity and cardiomyopathy [6]. HSCT has lesser effects on the skeletal and joint manifestations or corneal clouding [7]. Annual assessment by: orthopedic surgeon, neurologist (for evidence of spinal cord compression), ophthalmologist, cardiologist (including echocardiogram), audiologist, and otolaryngologist [8]. Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination [9]. Besides the Cardiac manifestations, it presents with complications from abnormal proteoglycan deposition in soft tissues in many locations, resulting in joint contractures, paraplegia, impaired vision, airway narrowing and restrictive lung function, to name a few [10].

There are very few reports of Surgical management of valvular Heart disease due to mucopolysaccharidosis (MPS) [11]. We describe the successful management of a patient with an extremely challenging case of mitral valve stenosis and a giant left atrial appendage aneurysm due to MPS type 1 (Hurler-Scheie syndrome) [12]. MPS type I is caused by the Deficiency of the lysosomal enzyme alpha-l-iduronidase and is classified into hurler syndrome, scheie syndrome, and Hurler-Scheie syndrome based on disease severity and onset [13]. Organomegaly present at onset of ERT improved in the majority of both older and younger siblings [14]. These are caused by the Deficiency or absence of alpha-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the lDUA gene [15].

Of these patients, 5 were MPS 1 patients (intermediate type or Hurler-Scheie syndrome), 8 were MPS2 patients (severe form), 1 was a MPS3 patient, 2 were MPS4 patients and 6 were MPS6 patients (severe form) [16]. Histopathology of the dissected cornea showed the presence of numerous alcian blue positive deposits corroborating with the diagnosis of mucopolysaccharidosis (MPS) [17]. Mutations of its gene, IDUA, yield a spectrum of mucopolysaccharidosis (MPS) type I clinical disorders [18]. In a longitudinal study of MPS brain Structure and function (Lysosomal Disease Network), we found this Mutation in 6 of 14 Hurler-Scheie syndrome patients in the age range of 15 to 25 years [19]. It is a rare, Autosomal recessive disorder caused by a deficiency of alpha-L-iduronidase [20].

The clinical manifestations are facial dysmorphism, hepatosplenomegaly, upper airway obstruction, skeletal deformity and cardiomyopathy [21]. It is a rare, Autosomal recessive disorder caused by a deficiency of alpha-L-iduronidase [22]. The clinical manifestations are facial dysmorphism, hepatosplenomegaly, upper airway obstruction, skeletal deformity and cardiomyopathy [23]. To facilitate treatment with hematopoietic stem-cell transplantation, early diagnosis is important for MPS IH patients [24]. He had normal biochemical parameters, thyroid function tests and arterial blood gas analysis [25].

The second case was a 6-year-old girl with umbilical hernia, short stature, normal biochemistry and radiological findings of mucopolysaccharidosis [26]. Hurler-Scheie syndrome (MPS I) is associated with a Deficiency of the lysosomal enzyme α-L-iduronidase [27]. Enzymatic replacement with intravenous laronidase is a frequently utilized therapeutic option [28]. We present an unusual case of a double-valve replacement in an MPS I patient, complicated by early infective Endocarditis requiring surgical reintervention [29]. While non-neurological symptoms improved, she developed paresthesias in her Hands and Feet and Progressive Pain in her Legs [30].

These soft-tissue deposits are presumably due to the accumulation of mucopolysaccharides [31]. In an Adult patient with scheie syndrome, ERT failed to prevent progression of cervical myelopathy [32]. A more robust decrease in urinary glycosaminoglycan was observed in patients with low Antibody levels and those who were receiving the 200 U/kg dosage [33]. Physical examination, biochemical analysis, ophthalmic examination and electroretinography were performed [34]. Further degradation with time suggests the defect to be Progressive with BMT causing little or no improvement [35].

These approaches have expanded the therapeutic options available to patients with rare genetic disorders, beyond palliative measures (such as liver or Kidney transplantation for end-organ failure) and cellular replacement through Bone marrow transplantation [36]. MPS I patients can present within a diverse clinical spectrum, ranging from classical hurler syndrome to attenuated scheie syndrome [37]. There are currently seven known forms of mucopolysaccharidoses [38]. Type I results from an enzymatic deficiency of alpha-L-iduronidase [39]. There are three subtypes of mucopolysaccharidoses I that are commonly recognized: hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome [40].

MPS I covers a broad spectrum of clinical severity ranging from severe hurler syndrome through intermediate Hurler/Scheie syndrome to mild scheie syndrome [41]. OSA was most marked in MPS type IH (Hurler syndrome) followed by types IHS (Hurler--Scheie syndrome) and II (Hunter syndrome) [42]. To date, a Number of Mutations of the IDUA gene are known in Hurler syndrome, but only a few in Hurler Scheie or scheie syndrome [43]. The patient had deficient alpha-L-induronidase activity, and electron Microscopy showed large cytoplasmic vacuoles and lysosomes, consistent with Hurler-Scheie syndrome [44].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 ,

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