We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. [onlinelibrary.wiley.com]

The melanosomes are present in the center of melanocytes but must be transported to the outer part of the cells and into other cells in order to provide the pigmentation. [mybiosource.com]

Primary neurological presentation without the accelerated phase is rare in type 2. [journals.sagepub.com]

• Hyperthermia

  Morphology of the bone marrow was hypocellular, signs of dyserythropoiesis (stage I) and megakaryocytes were reduced Methodology According to the clinical and laboratory data(hepatosplenomegaly, increased ferritin, hypertriglyceridemia, pancytopenia, hyperthermia [htct.com.br]

Besides, molecular diagnosis should be considered early in the diagnostic workup, which will be valuable for the prompt initiation of treatment and the reduction of late sequelae. [bmcpediatr.biomedcentral.com]

• White Matter Lesions

  Cerebral magnetic resonance revealed diffuse white matter lesions, and central nervous system (CNS) lymphocytic infiltration was suspected. [onlinelibrary.wiley.com]

Treatment Treatment Find a Specialist Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Palliative care includes treatment and prophylaxis care infections and immunosupressor therapy in accelerated phases. Some patients have died after transplantation, but others have had lasting remissions [htct.com.br]

Multiple liver biopsies revealed centrilobular cholestasis and unspecific portal inflammation that improved with immunomodulatory treatment. She was revealed to have an impaired cytotoxicity in NK cells and a decreased expression of RAB27A. [onlinelibrary.wiley.com]

[…] of skin and hair without any systemic involvement. [6] The prognosis for patients with GS3 is good, and these patients do not require any treatment. [idoj.in]

However, he did not respond to treatment and died. [scielo.br]

Although phenotypically similar, prognosis of each type varies depending on neurological or hematological findings. [idoj.in]

As far as possible HSCT is planning Conclusion The prognosis of patients with Griscelli syndrome is poor. It is usually rapidly fatal within 1-4 years without aggressive treatment and bone marrow transplantation at onset of an accelerated phase. [htct.com.br]

The prognosis of GS2 is poor, with death in early childhood due to HLH and its complications. [cdriadvlkn.org]

Since prognosis, treatment options, and genetic counseling markedly differ among different types, molecular characterization has utmost importance in GS [ 19 ]. [omicsonline.org]

Etiology The condition is characterized by impaired downregulation of activated macrophages, which accumulate in tissues and overproduce cytokines, resulting in organ damage. Acute episodes often have a trigger such as infection. [radiopaedia.org]

[…] and CNS vasculitis) and secondary etiologies (e.g. infections, tumor). [bmcpediatr.biomedcentral.com]

This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. [panafrican-med-journal.com]

Due to its rarity, epidemiologic data are still lacking. Hyperferritinemia is frequently associated with MAS and might modulate the cytokine storm, which is involved in the development of multiple organ failure. [panafrican-med-journal.com]

Pathophysiology Histopathology of Griscelli Syndrome (GS) involves prominent, mature melanosomes in skin and hair follicle melanocytes, but sparse pigmentation of adjacent keratinocytes. [accessanesthesiology.mhmedical.com]

Figure 3: (a and b) Pathophysiology of Griscelli syndrome and pathogenesis of Griscelli syndrome type 2 Click here to view The genetic abnormality and clinical presentation of the three types of GS are summarized in [Table 1]. [1], [2], [3], [4], [5], [ijpmonline.org]

The pathophysiological mechanism resulting in this morphological abnormality has been examined using electron microscopic and histochemical methods, and is thought to be a consequence of “softening” of the hair cortex, possibly secondary to abnormal composition [jcp.bmj.com]

The genetic mutation affects the transportation of melanosomes thus trapping them in the center of the melanocytes preventing the normal pigmentation of the eyes, hair and skin. [mybiosource.com]

As a result, these structures clump near the center of melanocytes, trapping melanin within these cells and preventing normal pigmentation of skin and hair. [encyclopedia.pub]

Before major procedures, a drug to prevent excessive bleeding, DDVAP, can be administered. Other than these options, treatment of CHS is symptomatic. [rarediseases.org]