Presentation
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]
Entire Body System
- Recurrent Infection
The affected individuals are at risk of developing recurrent infections. [mybiosource.com]
CASE A 4-month-old male Brazilian infant, second child of consanguineous parents, with a healthy 6-year-old brother, was brought with complaints of recurrent chest infections. [scielo.br]
Patients with GS type 2 caused by mutation in RAB27A gene, associated with a primary immunodeficiency due to an impairment of T cell and natural killer cytotoxic activity which leads to susceptibility to recurrent infections. [allergy.conferenceseries.com]
Affected individuals are prone to recurrent infections. [encyclopedia.pub]
The child was admitted to the pediatric ward several times during the past 1 year for recurrent respiratory and gastrointestinal infections. [cdriadvlkn.org]
- 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]
- Pallor
On examination, there was pallor and partial albinism with characteristic hypopigmentation of scalp hair, eyebrows, eyelashes and body hair (Figure 1a) with spleno-hepatomegaly. Figure 1. [academic.oup.com]
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]
- Recurrent Bacterial Infection
bacterial infections Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ] 0002718 Reduced delayed hypersensitivity 0002972 Showing of 46 | Last updated [rarediseases.info.nih.gov]
Respiratoric
- Pneumonia
Tests to rule out common infections like hepatitis A/B/C, HIV-1, EBV, CMV, tuberculosis, salmonella typhosa and mycoplasma pneumoniae, didn’t reveal any abnormalities. Immunoglobulin IgE was at high level of 1040 IU/ml. [bmcpediatr.biomedcentral.com]
Liver, Gall & Pancreas
- Hepatomegaly
On examination, there was pallor and partial albinism with characteristic hypopigmentation of scalp hair, eyebrows, eyelashes and body hair (Figure 1a) with spleno-hepatomegaly. Figure 1. [academic.oup.com]
Accumulation of fluid in the abdomen 0001541 Ataxia 0001251 Bone marrow hypocellularity Bone marrow failure 0005528 Cranial nerve paralysis 0006824 Encephalocele 0002084 Fever 0001945 Global developmental delay 0001263 Hepatitis Liver inflammation 0012115 Hepatomegaly [rarediseases.info.nih.gov]
The systemic features of neurological involvement, pancytopenia, hepatomegaly, splenomegaly, and lymphadenopathy in GS are mainly due to infiltration of meninges (including brain parenchyma), bone marrow, liver, spleen, and lymph nodes by activated histiocytes [escholarship.org]
A chest X-ray was normal while the abdominal ultrasound showed a hepatomegaly and a splenomegaly, free biliary ducts without ascites. [panafrican-med-journal.com]
Skin
- Hyperkeratosis
Signs of malnutrition such as Bitot's spots, follicular hyperkeratosis, bipedal edema, angular stomatitis, and exfoliation of the skin were absent. [cdriadvlkn.org]
Hyperkeratosis of the epidermis and increased melanocyte accumulation within basal layer was seen Full size image Hence, the patient was diagnosed as GS2 with HLH, characterizing by CNS involvement at the onset. [bmcpediatr.biomedcentral.com]
- Skin Disease
Where to Start DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition. [rarediseases.info.nih.gov]
Workup
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]
Ultrasound
- Enlargement of the Liver
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 numbers [dermnetnz.org]
Patients can develop symptoms such as fever, swollen lymph nodes, enlargement of the liver and spleen, anemia, low WBC count, and low blood platelet count. This is a serious condition and needs to be treated right away. [rarediseases.org]
Treatment
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]
Prognosis
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
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]
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]
Pathophysiology
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]
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. [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]