Griscelli syndrome and electroencephalography pattern

Vieira-Karuta, Simone Carreiro; Silva, Izabella C. Bertoldo; Almeida, Nádia Aparecida P.; Noronha, Lúcia de; Santos, Mara Lúcia Schmitz Ferreira; Liberalesso, Paulo Breno Noronha

doi:10.1590/s0004-282x2008000300030

Cited by 4 publications

(5 citation statements)

References 13 publications

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“…The neurological symptoms include: hyperreflexia, hypertonia, seizures, increased intracranial pressure, nystagmus, ataxia, and fatal degeneration. Cerebellar hypodense areas, ventricular dilatation, white matter changes, periventricular and basal ganglia calcifications and hyperdense areas, compatible with inflammatory changes, are neuroimaging findings associated with GS2 (1,4,7) .…”

Section: Discussionmentioning

confidence: 97%

Griscelli Syndrome with neurological deterioration: A case report.

Yimenicioglu¹,

Yakut²,

Çarman³

et al. 2017

Okmeydani Medical Journal

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Section: Discussionmentioning

confidence: 97%

Griscelli Syndrome with neurological deterioration: A case report.

Yimenicioglu¹,

Yakut²,

Çarman³

et al. 2017

Okmeydani Medical Journal

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“…GS was first described in 1978 by Claude Griscelli and Michel Prunieras ,1,3 , and since then more than 100 cases have been reported. Clinical onset usually occurs from 4 months to 7 years of age [3][4][5][6] . GS is classified into 3 types based on mutations in genes; MYO5A (GS1), RAB27A (GS2) or MLPH (GS3).…”

Section: Discussionmentioning

confidence: 99%

“…HS is characterized by prolonged high fever, hepatosplenomegaly, jaundice, pallor, lymphadenopathy, pancytopenia, hypertriglyceridaemia, hypofibrinogenaemia, coagulopathy, intracranial hypertension, seizures, encephalopathy and peripheral facial palsy 2 . Immunosuppressive regimens including chemotherapy, high dose corticosteroids, anti thymocyte globulin, intrathecal methotrexate, cyclosporine have been tried to attenuate HS 2,9 . However, these are palliative and the syndrome is inevitably fatal unless bone marrow transplantation (BMT) is undertaken 1,3,6,9 . GS1 develop early, severe and progressive primary neurological impairment and consist of hypotonia, loss of coordinated motor movements, retarded psychomotor development.…”

Section: Discussionmentioning

confidence: 99%

“…GS1 develop early, severe and progressive primary neurological impairment and consist of hypotonia, loss of coordinated motor movements, retarded psychomotor development. Neurological involvement in GS2 is secondary to lymphohistiocytic infiltration 3,5 . Neuroradiology reveals cerebral hyperdense areas, ventricular dilation, white matter changes and periventricular calcifications in GS2 and isolated congenital cerebellar atrophy in GS1 3 .…”

Section: Discussionmentioning

confidence: 99%

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Griscelli syndrome: A unique pigmentary defect

Lothe

Dhande

2015

Sri Lanka J Child Health

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“…A range of immune defects, neurological disorders with pigmentation defects of varying degrees are the main clinical manifestation. [4][5] This syndrome, infections not only as a pathogen but also as a trigger of regulatory disorder in the immune system can cause fatal conditions named as HLH. 6 In this article, we introduce a patient with Griscelli syndrome type2, who suffered from an intrauterine infection that caused HLH in the first days of birth.…”

Section: Introductionmentioning

confidence: 99%

Neonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2

Nodehi¹,

Faranoush²,

Arshi³

et al. 2022

IJAAI

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Griscelli syndrome (GS) type 2 is an inborn error of the immune system classified as immune dysregulation. This autosomal recessive disease has three types with different genetic causes. In all variants, hypopigmentation is common, but neurological involvement or immunodeficiency varies in severity. The known genetic defects associated with GS include mutations in myosin 5 A (GS type1), guanosine triphosphate binding protein (GS type 2), and human melanophilin (GS type 3). Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition and is characterized by severe, ineffective, and uncontrolled inflammatory reactions. A HLH can be classified as primary or secondary, with secondary resulting from autoimmunity, malignancy, spontaneous or infectious causes. Many prenatal infections can cause long-term complications in the fetus, including toxoplasmosis, rubella, cytomegalovirus, herpes simplex, syphilis, parvovirus, and varicella zoster (known as TORCH syndrome). Prenatal infections have been associated with TORCH for a long time, but HLH is a rare complication. The report presents a case of HLH with symptoms of sepsis, organomegaly, and cytopenia from the time of birth. A genetic test confirmed Griscelli Syndrome Type 2, which was diagnosed during an immunologic consultation regarding partial albinism not seen in family members. Prenatal infection was the only approved finding in the investigation into the trigger of HLH in this patient starting in the first days of life. Accordingly, the patient was diagnosed with type 2GS syndrome with neonatal-onset HLH caused by a prenatal infection.

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Griscelli syndrome and electroencephalography pattern

Cited by 4 publications

References 13 publications

Griscelli Syndrome with neurological deterioration: A case report.

Griscelli Syndrome with neurological deterioration: A case report.

Griscelli syndrome: A unique pigmentary defect

Neonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2

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