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]

• Fever

  A 4-year-old male child was brought with the complaint of fever and enlarged neck nodes of 8 months duration and difficulty in walking since 6 months. History revealed episodes of fever occurring once in every 2 months since 1-year of age. [ijpmonline.org]

  A 10-year-old boy presented with partial albinism and typical clinical features of a macrophage activation syndrome (hepatosplenomegaly, fever, and pancytopenia), suggesting the diagnosis of Griscelli syndrome. [tandfonline.com]

  Belohradsky Published in European Journal of Pediatrics 2000 DOI: 10.1007/PL00013808 Abstract A 2-month-old girl presented with fever, hepatosplenomegaly, pancytopenia, hypertriglyceridaemia and silvery-greyish hair, suggesting the diagnosis of Griscelli [semanticscholar.org]

  On admission, he was very pale with silvery gray scalp hair, white eyelashes, he was hypotonic, tachycardic, fever of 40°C, lymphoadenopathy and hepato-splenomegaly. [panafrican-med-journal.com]

  There was no history of fever, jaundice, abdominal pain, convulsions, or photosensitivity. He was born out of nonconsanguineous marriage, with uneventful antenatal or perinatal period. His physical development was normal. [journals.lww.com]

• Developmental Delay

  GS type 1 is caused by mutation in the MYO5A gene, causing severe primary neurological impairment such as developmental delay and mental retardation, in addition to the distinctive skin and hair coloring. [allergy.conferenceseries.com]

  These include changes in muscle tone or paralysis, seizures, and developmental delay. Type 1 Griscelli syndrome is also called Elejalde syndrome. [dermnetnz.org]

  These individuals are prone to have developmental delays, seizures, weak muscle (hypotonia), vision problems and intellectual problems. This results in the defect of the gene MY05A. [mybiosource.com]

• Inflammation

  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]

  Additional findings in type 1 and 2 Griscelli syndrome include: Generalised lymphadenopathy (swollen lymph nodes ) Enlargement of the liver and spleen Hepatitis (liver inflammation ) Eye defects including partial ocular albinism Pancytopaenia (reduced [dermnetnz.org]

  Early diagnosis and rapid control of the excessive inflammation with HLH-1994 regimen and ruxolitinib is the key to successful treatment for this patient. [bmcpediatr.biomedcentral.com]

• Hepatosplenomegaly

  Abdominal ultrasound showed hepatosplenomegaly and the ophthalmologic exam revealed retinal pigmentary epithelium atrophy. [scielo.br]

  We describe a 3 years old girl patient classic features of Griscelli syndrome type 2 Case report A 3-year-old girl was admitted to hematology with complaints of LAP, hepatosplenomegaly and pancytopenia (WBC- 3080/µl, Hb-7.6 g/dl, Neutr.-350/µl, PLT - [htct.com.br]

  A 10-year-old boy presented with partial albinism and typical clinical features of a macrophage activation syndrome (hepatosplenomegaly, fever, and pancytopenia), suggesting the diagnosis of Griscelli syndrome. [tandfonline.com]

  Belohradsky Published in European Journal of Pediatrics 2000 DOI: 10.1007/PL00013808 Abstract A 2-month-old girl presented with fever, hepatosplenomegaly, pancytopenia, hypertriglyceridaemia and silvery-greyish hair, suggesting the diagnosis of Griscelli [semanticscholar.org]

  Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistocytosis a Rare and Lethal Disorder Abstract A two and half years old male child was admitted with silvery grey hair, recurrent chest infection, ear discharge, hepatosplenomegaly, pancytopenia and [theijcp.org]

• Hypopigmented Skin

  Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. 1. [encyclopedia.pub]

  Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. [ghr.nlm.nih.gov]

  Description Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. [medlineplus.gov]

  Since then, a little over than 60 cases of Griscelli syndrome (GS) have been reported in the medical literature in association with primary neurologic manifestations, with immunologic abnormalities or with silvery gray hair and hypopigmented skin as the [scielo.br]

  Showing of 46 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Hypopigmented skin patches Patchy loss of skin color 0001053 Premature graying of hair Early graying Premature graying Premature greying Premature hair [rarediseases.info.nih.gov]

• Seizure

  Latter, many authors reported the presence of seizures, intracranial hypertension, hemiparesis, facial palsy, hypotonia, psychomotor and language delay, progressive neurologic deterioration, cerebellar signs and spasticity4-12. [scielo.br]

  Affected individual may have intellectual disability, seizures and weak muscle tone (hypotonia) eye and vision abnormalities. [allergy.conferenceseries.com]

  These include changes in muscle tone or paralysis, seizures, and developmental delay. Type 1 Griscelli syndrome is also called Elejalde syndrome. [dermnetnz.org]

• Convulsions

  There was no history of fever, jaundice, abdominal pain, convulsions, or photosensitivity. He was born out of nonconsanguineous marriage, with uneventful antenatal or perinatal period. His physical development was normal. [journals.lww.com]

  Once the neurologic alterations were initiated, all patients, except patient 7, suffered convulsive episodes. Neuromuscular disorders included constant severe generalized hypotonia as well as hyperactive deep tendon reflexes. Table 2. [jamanetwork.com]

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]

• Leukopenia

  […] more ] 0002218 White hair 0011364 30%-79% of people have these symptoms Abnormal circulating lipid concentration 0003119 Abnormality of neutrophils 0001874 Decreased circulating antibody level 0004313 Immunodeficiency Decreased immune function 0002721 Leukopenia [rarediseases.info.nih.gov]

  Patient 6 had the only blood cell count with persistent leukopenia. Humoral and cellular immunologic test results were within normal limits in all cases. Neurologic alterations were the most striking features ( Table 2 ). [jamanetwork.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]