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Griscelli Syndrome

Griscelli Disease


Presentation

  • 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]
  • A very close differential diagnosis of GS is Chediak–Higashi syndrome, which also presents with partial albinism and recurrent infections.[idoj.in]
  • GS1 presents with primarily neurologic impairment with no immunologic involvement, GS2 presents with immunological dysfunction and multisystem involvement, and GS3 presents with only hypomelanosis. [3] Patients with GS1 and GS3 are very rare.[cdriadvlkn.org]
Infectious Mononucleosis
  • Serology for chronic fever which included brucellosis, infectious mononucleosis, and hepatitis were negative. His chest X-ray showed pneumonitis with bilateral pleural effusions.[ijpmonline.org]
Abdominal Distension
  • Furthermore the boy presented a progressive abdominal distension since birth, progressive pallor and recurrent episodes of fever since 1 year of age. There was history of blood transfusions for last 2 months.[panafrican-med-journal.com]
Vomiting
  • On the other side there was no history of jaundice, vomiting, urinary or bowel complaints, bleeding from any site or neurological complaints.[panafrican-med-journal.com]
Diplopia
  • She had diplopia on horizontal gaze in the right eye with no signs of focal neurological deficit or meningism. The remainder of her physical examination was unremarkable except for mild splenomegaly.[escholarship.org]
Bitot's Spots
  • Signs of malnutrition such as Bitot's spots, follicular hyperkeratosis, bipedal edema, angular stomatitis, and exfoliation of the skin were absent.[cdriadvlkn.org]
Hyperkeratosis
  • Signs of malnutrition such as Bitot's spots, follicular hyperkeratosis, bipedal edema, angular stomatitis, and exfoliation of the skin were absent.[cdriadvlkn.org]
Purpura
  • The onset of the syndrome is usually heralded by the sudden occurrence of non-remitting high fever, pancytopenia; as a result, patients may have purpura, easy bruising and mucosal bleeding.[panafrican-med-journal.com]
Encephalopathy
  • It is characterised clinically by unremitting high fever, pancytopaenia, hepatosplenomegaly, hepatic dysfunction, encephalopathy, coagulation abnormalities and sharply increased levels of ferritin.[panafrican-med-journal.com]
Dystonia
  • Adult Chediak-Higashi parkinsonian syndrome with dystonia. Mov Disord. 2000 ;15: 705 - 708. Google Scholar Crossref Medline Ballard R., Tien RD, Nohria V., Juel V. The Chédiak-Higashi syndrome: CT and MR findings.[journals.sagepub.com]
Irritability
  • General condition of the patient appeared to be lethargic and irritable. There was no icterus. The height was 74 cm and he weighed 9 kg. Both of these parameters were within the normal range for his age.[cdriadvlkn.org]

Treatment

  • However, he did not respond to treatment and died.[scielo.br]
  • Diagnosis and Treatment Diagnosis of this syndrome may be considered when individuals are presented with silver hair accompanied with neurological and immune system disorder.[mybiosource.com]
  • Systemic corticosteroids, anti-thymocyte globulins and cyclosporine are the treatment options in established cases of lymphohistiocytic histiocytosis [ 7 ].[escholarship.org]
  • […] 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]
  • Medical Care Medical treatment of patients with Griscelli syndrome is difficult. The only real treatment for the hemophagocytic lymphohistiocytosis syndromes of which Griscelli syndrome is a part is stem cell transplantation.[emedicine.medscape.com]

Prognosis

  • Although phenotypically similar, prognosis of each type varies depending on neurological or hematological findings.[idoj.in]
  • 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]
  • Prognosis is poor and accelerated phases with HLH can be fatal. Average age at death is 5 years. [9] The only possibility of curing this disease is bone marrow transplantation or peripheral blood stem cell transplantation.[ijpmonline.org]
  • […] of MAS is usually marked by a sharp rise of ferritin, often above 5000-10,000 ng/mL it has been suggested that measurement of serum ferritin level may assist in the diagnosis of MAS and is a useful indicator of disease activity, therapy response and prognosis[panafrican-med-journal.com]

Etiology

  • 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]
  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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.[ghr.nlm.nih.gov]
  • Prevention Morphologic examination of peripheral blood or cultured amniotic and chorionic villi cells can help in prenatal diagnosis of Griscelli syndrome.[emedicine.medscape.com]
  • Before major procedures, a drug to prevent excessive bleeding, DDVAP, can be administered. Other than these options, treatment of CHS is symptomatic.[rarediseases.org]

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