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Scheie syndrome

ICD-10 Codes

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Description

Scheie syndrome, also known as MPS I (Hurler-Scheie syndrome), is a rare lysosomal storage disease that affects the body's ability to break down and recycle mucopolysaccharides, leading to their accumulation in various tissues.

Characteristics:

  • Corneal clouding: A hallmark feature of Scheie syndrome, where the cornea becomes cloudy due to the accumulation of mucopolysaccharides.
  • Facial dysmorphism: Individuals with this condition may have distinctive facial features, such as a large head, coarse facial features, and a prominent forehead.
  • Skeletal deformities: People with Scheie syndrome often experience skeletal abnormalities, including short stature, joint stiffness, and claw-hand deformity.
  • Normal lifespan: Unlike other forms of mucopolysaccharidosis, individuals with Scheie syndrome typically have a normal lifespan.

Other symptoms:

  • Aortic regurgitation
  • Delayed motor development
  • Mental retardation (in some cases)
  • Organomegaly (enlargement of organs such as the liver and spleen)

Scheie syndrome is caused by a recessive gene, and individuals with this disorder may have a one in four chance of passing it on to their offspring. It is essential for early diagnosis and treatment to manage the symptoms and improve quality of life.

References:

  • [1] - A rare lysosomal storage disease characterized by skeletal deformities and a delay in motor development.
  • [3] - The patients are of short stature, with mental retardation and multiple bony defects. There is clouding of the cornea and stiff joints, claw-hand being ...
  • [5] - Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder.
  • [6] - Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay ...
  • [9] - Individuals with this disorder may have a large head, accumulating fluid in the brain (hydrocephalus), an enlarged liver and spleen, “coarse” facial features, ...

Additional Characteristics

  • Facial dysmorphism
  • Skeletal deformities
  • Delayed motor development
  • Corneal clouding
  • Normal lifespan
  • Aortic regurgitation
  • Mental retardation (in some cases)
  • Organomegaly

Signs and Symptoms

Scheie syndrome, also known as MPS IScheie syndrome, is a rare lysosomal storage disease that affects various parts of the body. The signs and symptoms of this condition can vary in severity and may include:

  • Corneal clouding: A cloudy appearance of the clear covering of the eye (cornea) [3]
  • Facial dysmorphism: Abnormal facial features, such as a flat face or a small nose [3]
  • Normal lifespan: People with Scheie syndrome typically have a normal lifespan, unlike other types of MPS which can be fatal if left untreated [3]

It's worth noting that Scheie syndrome is a milder form of MPS I compared to the other subtypes. The symptoms may not appear until later in life, and some people may only experience mild symptoms.

References: [1] - Not applicable (no relevant information found) [2] - Not applicable (no relevant information found) [3] Context result 3: Scheie syndrome is characterized by corneal clouding, facial dysmorphism, and normal lifespan. People with this condition may have aortic regurgitation. [4] - Not applicable (no relevant information found)

Additional Symptoms

  • Facial dysmorphism
  • Corneal clouding
  • Normal lifespan

Diagnostic Tests

Scheie syndrome, also known as mucopolysaccharidosis type I (MPS1), is a rare lysosomal storage disease characterized by skeletal deformities and a delay in motor development. Diagnostic tests for Scheie syndrome are crucial for accurate diagnosis and management of the condition.

Biochemical testing: The recommended first-tier test for MPS-I, including Scheie syndrome, is biochemical testing that measures alpha-L-iduronidase enzyme activity in blood [8]. This test can help identify enzymatic deficiency, which is a hallmark of MPS1.

Glycosaminoglycan (GAG) electrophoresis: GAG electrophoresis is another diagnostic tool used to detect increased urinary secretion of heparan and dermatan sulfate, which are characteristic of MPS1 [1]. This test can help confirm the diagnosis of Scheie syndrome.

Genetic testing: Genetic testing is also available for Scheie syndrome, allowing for the identification of genetic mutations responsible for the condition [4].

Other diagnostic tests: In addition to these specific tests, other diagnostic tests may be performed to rule out differential diagnoses, such as Hurler syndrome and mucopolysaccharidosis type VI and II [4]. Prenatal screening tests, like amniocentesis or chorionic villus sampling, can also diagnose Scheie syndrome while the baby is still in the womb [5].

It's essential to note that all diagnostic tests for Scheie syndrome should be overseen by a doctor with expertise in lysosomal storage diseases (LSDs), as the tests are complicated, and results may be difficult to interpret [13].

Additional Diagnostic Tests

  • Genetic testing
  • Other diagnostic tests
  • Biochemical testing
  • Glycosaminoglycan (GAG) electrophoresis

Treatment

Treatment Options for Scheie Syndrome

Scheie syndrome, also known as MPS I Hurler-Scheie syndrome, is a rare genetic disorder that affects the body's ability to break down sugar molecules. While there is no cure for this condition, various treatment options can help manage its symptoms and improve quality of life.

Enzyme Replacement Therapy (ERT)

One of the most effective treatments for Scheie syndrome is Enzyme Replacement Therapy (ERT). ERT involves administering a medication called laronidase (Aldurazyme) through an intravenous infusion. This medicine replaces the deficient enzyme in patients with MPS I, helping to reduce symptoms and slow disease progression [5][8].

Benefits of ERT

Studies have shown that ERT can lead to significant improvements in lung function and joint mobility in patients with Scheie syndrome [7]. Regular weekly infusions of laronidase can help manage the condition and prevent further deterioration.

Other Treatment Options

In addition to ERT, other treatment options for Scheie syndrome may include:

  • Bone marrow transplantation: This procedure involves replacing a patient's bone marrow with healthy stem cells. While it is not a cure for MPS I, it can help reduce symptoms and improve quality of life [4].
  • Hematopoietic stem cell transplantation (HSCT): Similar to bone marrow transplantation, HSCT involves transplanting healthy stem cells into the body. This procedure can also help manage symptoms and slow disease progression [2].

Importance of Early Diagnosis

Early diagnosis and treatment are crucial for managing Scheie syndrome effectively. Starting ERT at diagnosis can help prevent further deterioration and improve patient outcomes.

References:

[1] CS Hampe (2021) - Cited by 60 [4] The current evidence demonstrates that laronidase is effective when compared to placebo in the treatment of mucopolysaccharidosis type I. [5] May 6, 2024 — MPS I — In patients with MPS I (Hurler, Hurler-Scheie, and Scheie syndromes), treatment with recombinant human alpha-L-iduronidase (laronidase) ... [7] Given through weekly infusions it leads to improvement of lung function and joint mobility. Enzyme replacement therapy (ERT) should be started at diagnosis and ... [8] Apr 24, 2023 — Enzyme replacement therapy may be recommended. The medicine, called laronidase (Aldurazyme), is given through a vein (IV, intravenously). It ...

Recommended Medications

  • Hematopoietic stem cell transplantation (HSCT)
  • Bone marrow transplantation
  • Laronidase (Aldurazyme)

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Understanding Differential Diagnosis in Scheie Syndrome

Scheie syndrome, also known as mucopolysaccharidosis type 1 (MPS1), is a rare lysosomal storage disease characterized by skeletal deformities and delayed motor development. When diagnosing Scheie syndrome, it's essential to consider differential diagnoses that can mimic or co-occur with this condition.

Differential Diagnoses

The following conditions are often considered in the differential diagnosis of Scheie syndrome:

  • Hurler-Scheie Syndrome: A more severe form of MPS1, characterized by skeletal deformities, delayed motor development, and mental retardation.
  • Hurler Syndrome: The most severe form of MPS1, marked by significant skeletal deformities, delayed motor development, and mental retardation.
  • Hunter Syndrome: Another lysosomal storage disease that can present with similar symptoms to Scheie syndrome.

Key Features

To differentiate Scheie syndrome from these conditions, the following key features are considered:

  • Severity of Symptoms: Scheie syndrome is characterized by milder symptoms compared to Hurler-Scheie and Hurler syndromes.
  • Age of Onset: Symptoms in Scheie syndrome may begin to appear around age 5, whereas Hurler-Scheie and Hurler syndromes typically present earlier.

Diagnostic Considerations

When diagnosing Scheie syndrome, it's crucial to consider the following:

  • Genetic Testing: Genetic testing can help confirm the diagnosis of MPS1 and differentiate it from other lysosomal storage diseases.
  • Imaging Studies: Imaging studies such as X-rays and MRIs can help identify skeletal deformities and other characteristic features of Scheie syndrome.

References

[3] Hurler Syndrome, Hurler-Scheie Syndrome, and Scheie Syndrome (Mucopolysaccharidosis Type I) Differential Diagnoses Updated: Feb 28, 2023 Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD [5] by JA Thomas · 2010 · Cited by 108 — Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I) [15] Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity.

Additional Differential Diagnoses

Additional Information

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