Prieur Griscelli syndrome
Prieur Griscelli Syndrome Prieur Griscelli Syndrome (PGS) is a rare genetic disorder characterized by a combination of immunodeficiency, neurological problems, and partial albinism. It is one of the three types of Griscelli syndrome, which are distinguished by their genetic causes and clinical manifestations.
Overview[edit | edit source]
Prieur Griscelli Syndrome is caused by mutations in the RAB27A gene, which plays a crucial role in the transport of melanosomes and other lysosome-related organelles. The syndrome is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.
Clinical Features[edit | edit source]
The clinical features of Prieur Griscelli Syndrome include:
- Partial Albinism: Patients exhibit hypopigmentation of the skin and hair, leading to a silvery-gray appearance of the hair.
- Immunodeficiency: Affected individuals have a compromised immune system, making them susceptible to recurrent infections.
- Neurological Problems: Neurological symptoms can include developmental delay, hypotonia, and seizures.
Diagnosis[edit | edit source]
Diagnosis of Prieur Griscelli Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the RAB27A gene. Genetic testing is crucial for confirming the diagnosis and differentiating it from other types of Griscelli syndrome.
Treatment[edit | edit source]
There is no cure for Prieur Griscelli Syndrome, and treatment is primarily supportive. Management strategies include:
- Infection Control: Prophylactic antibiotics and immunoglobulin replacement therapy may be used to prevent infections.
- Neurological Support: Anticonvulsants and physical therapy may be necessary to manage neurological symptoms.
- Bone Marrow Transplantation: In some cases, hematopoietic stem cell transplantation may be considered to correct the immunodeficiency.
Prognosis[edit | edit source]
The prognosis for individuals with Prieur Griscelli Syndrome varies depending on the severity of the symptoms and the effectiveness of the treatment. Early diagnosis and intervention can improve outcomes, but the condition is often life-threatening due to the risk of severe infections and neurological complications.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Prieur Griscelli syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
