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Griscelli syndrome type 1

Overview

Griscelli syndrome type II: A rare genetic condition characterized by a partial lack of pigmentation in the eye, skin and hair, clumps of pigmentation in hair shafts, immunodeficiency and neurological symptoms.

Symptoms - Griscelli syndrome type 1

The list of signs and symptoms mentioned in various sources for Griscelli syndrome type II includes the 24 symptoms listed below: * Pigment clumps in hair shafts * Melanosome accumulation in melanocytes * Recurrent neutropenia * Low blood platelet level * Decreased gamma globulin levels in blood * Recurring decrease in blood fibrinogen level * Silvery hair * Frequent infections * Premature death * Neurological symptoms * Death due to hemophagocytic syndrome * Anemia - due to hemophagocytic syndrome * Enlarged liver - due to hemophagocytic syndrome * Enlarged spleen - due to hemophagocytic syndrome * Lymphadenopathy - due to hemophagocytic syndrome * Pancytopenia - due to hemophagocytic syndrome * Fever - due to hemophagocytic syndrome * Jaundice - due to hemophagocytic syndrome * Neurological regression * Reduced reflexes * Seizures * Loss of previously attained skills * Nystagmus * Ataxia

Causes - Griscelli syndrome type 1

Although the cause of CFIDS is unknown, researchers suspect that it may be found in human herpesvirus 6 or in other herpesviruses, enteroviruses, or retroviruses. Rising levels of antibodies to EBV, once thought to implicate EBV infection as the cause of CFIDS, are now considered a result of this disease. CFIDS may be associated with a reaction to viral illness that’s complicated by dysfunctional immune response and by other factors that may include sex, age, genetic disposition, prior illness, stress, and environment.

Prevention - Griscelli syndrome type 1

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Diagnosis - Griscelli syndrome type 1

The phrase \"signs of Griscelli syndrome type II\" should, strictly speaking, refer only to those signs and symptoms of Griscelli syndrome type II that are not readily apparent to the patient. The word \"symptoms of Griscelli syndrome type II\" is the more general meaning; see symptoms of Griscelli syndrome type II. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Griscelli syndrome type II. This medical information about signs and symptoms for Griscelli syndrome type II has been gathered from various sources, may not be fully accurate, and may not be the full list of Griscelli syndrome type II signs or Griscelli syndrome type II symptoms. Furthermore, signs and symptoms of Griscelli syndrome type II may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Griscelli syndrome type II symptoms.

Prognosis - Griscelli syndrome type 1

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Treatment - Griscelli syndrome type 1

Treatment is aimed at the cause, if one can be found. Supportive therapy includes an anti-inflammatory, an antihistamine, and rest. Treatment of symptoms may include a tricyclic antidepressant (doxepin), a histamine2-blocker (cimetidine), and an anxiolytic (alprazolam). In some patients, avoidance of environmental irritants and certain foods may help to relieve symptoms. Experimental treatments include the antiviral acyclovir and selected immunomodulators, such as I.V. gamma globulin, ampligen, and transfer factor.

Resources - Griscelli syndrome type 1

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