Symptoma

Griscelli Syndrome Type 2

GS2

Griscelli syndrome has to be distinguished from Chediak-Higashi syndrome and Elejalde disease, which can also present with silvery hair. [pigmentinternational.com]

GS1 presents with primarily neurologic impairment with no immunologic involvement while GS2 presents with immunological dysfunction and multisystem involvement, whereas GS3 have only hypomelanosis. [e-ijd.org]

It was described by Griscelli et al. (1978) in France, who reported two girls who were presented with silver gray hair, several episodes of fever, hepatosplenomegally and pancytopenia. [globalscienceresearchjournals.org]

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

CASE PRESENTATION To cite: Işikay S. [docksci.com]

  • Recurrent Bacterial Infection

    bacterial infections ; Reduced delayed hypersensitivity ; Seizures ; Silver-gray hair ; Spasticity Associated Genes RAB27A (Withdrawn symbols: GS2, HsT18676, RAB27, RAM ) Mouse Orthologs Rab27a (Withdrawn symbols: 2210402C08Rik, 2410003M20Rik, 4933437C11Rik [mousephenotype.org]

    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]

  • Death in Childhood

    HEMOPHAGOCYTIC SYNDROME, PAID SYNDROME, PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME Classification eye, genetic, immunological, skin Phenotypes Abnormal cerebellum morphology ; Accumulation of melanosomes in melanocytes ; Autosomal recessive inheritance ; Death [mousephenotype.org]

    […] in childhood 0003819 Hemophagocytosis 0012156 Hypopigmentation of the skin Patchy lightened skin 0001010 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Melanin pigment aggregation in hair shafts 0002220 Recurrent bacterial [rarediseases.info.nih.gov]

  • Abdominal Distension

    A two-and-a-half-year-old male born of non-consanguineous parentage was referred to with complaints of progressive abdominal distension since birth, progressive pallor and recurrent episodes of fever since 1 year of age and on and off ear discharge for [e-ijd.org]

    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]

  • Ear Discharge

    The sibling had history of repeated episodes of fever and ear discharge and light colored hair. There was no history of any relatives affected by similar clinical presentation. On examination his vital parameters were normal. [e-ijd.org]

  • White Eyelashes and Eyebrows

    He had pallor, silvery gray scalp hair, white eyelashes, sparse eyebrows, and pedal edema [Figure 1]. Abdomen was distended, with firm hepatomegaly. The spleen was palpable 7 cm below left costal margin and was firm in consistency. [e-ijd.org]

  • Sparse Eyebrows

    He had pallor, silvery gray scalp hair, white eyelashes, sparse eyebrows, and pedal edema [Figure 1]. Abdomen was distended, with firm hepatomegaly. The spleen was palpable 7 cm below left costal margin and was firm in consistency. [e-ijd.org]

  • Cerebellar Sign

    Neurologic involvement with raised intracranial pressure, cerebellar signs, encephalopathy, hemiparesis, peripheral facial palsy, spasticity, hypotonia, seizures, psychomotor retardation and progressive neurologic deterioration is known [ 3 ]. [casereports.in]

  • Dysmetria

    OUTCOME AND FOLLOW-UP However, on the sixth day of hospitalisation her general condition worsened and her neurological examination revealed ataxia, dyssynergia and dysmetria. [docksci.com]

  • Stupor

    Ashrafi et al10 reported bilateral basal ganglia involvement in a GS2 case who was admitted to the hospital with seizures and stupor. Competing interests None. Patient consent Obtained. [docksci.com]

The work up for all these disorders came to be negative and child was referred to our facility for further workup. [e-ijd.org]

Sepsis workup and CSF study including cytospin for malignant cells were negative. LDH was mildly elevated and serum ferritin, fibrinogen levels, triglycerides were normal ruling out possibility of hemo-phagocytosis [Table 1]. [casereports.in]

  • Anisopoikilocytosis

    The peripheral smear showed moderate anisopoikilocytosis, predominantly normocytic hypochromic RBC with fair number of microcytes, ovalocytes and few ellipitocytes. Platelets and leucocytes were reduced. [e-ijd.org]

  • Bicytopenia

    Figure 1: Note the silvery discoloration of the scalp hair and the eyebrows Click here to view Investigation revealed bicytopenia, with hemoglobin of 5.8 gm/dl and platelets 1, 00,000/μl. [pigmentinternational.com]

  • Lymphocytic Infiltrate

    HLH has been characterized by an unremitting polyclonal CD8 T-cell expansion, and lymphocytic infiltration of visceral tissues that leads to macrophage activation (hemophagocytosis) and the deleterious release of several cytokines, including interferon [scielo.br]

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

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Early diagnosis and treatment will help in improvement of the outcome. Key words: Griscelli syndrome type 2, RAB27A, CNS involvement. [globalscienceresearchjournals.org]

Biological treatments are used when steroids and/or synthetic immunosuppressive drugs have not been effective. [panafrican-med-journal.com]

However the prognosis of GS3 is good where no special treatment needed [ 17, 18 ]. GS3 patients have no need for treatment and as seen in the present case the patient has attained 11 year of age and doing well with no deficit or medical illness. [omicsonline.org]

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]

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

The prognosis of GS2 is poor and death is usually due to haemophagocytic lymphohistiocytosis, which should be suspected, diagnosed and treated promptly. [docksci.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]

"Hermansky-Pudlak Syndrome: Background, Pathophysiology, Epidemiology". 13 June 2017. "Hermansky-Pudlak Syndrome". Hermansky–Pudlak Syndrome. University of Washington, Seattle. 1993. Retrieved 24 November 2008. [en.wikipedia.org]

Hospital & Research Center, Riyadh, Saudi Arabia A Al-Ghonaium, H Al-Mousa, B Al-Saud, S Al-Muhsen & H Al-Dhekri Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia A Hawwari Department of Biostatistics & Epidemiology [nature.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]

"Hermansky-Pudlak Syndrome: Background, Pathophysiology, Epidemiology". 13 June 2017. "Hermansky-Pudlak Syndrome". Hermansky–Pudlak Syndrome. University of Washington, Seattle. 1993. Retrieved 24 November 2008. [en.wikipedia.org]

Notes Declarations Authors’ Affiliations (1) Department of Pathology and Pathophysiology, School of Medicine, Southeast University, Nanjing, 210009, China (2) Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, [diagnosticpathology.biomedcentral.com]

The authors concluded that early aHSCT is feasible for treating patients with Griscelli syndrome and low level of donor cell engraftment is sufficient to prevent the recurrence of the disease. [cags.org.ae]

These cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection and illness. [ghr.nlm.nih.gov]

Protein coding - H3BS49 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 3, when transcripts are supported by a single EST only. [ensembl.org]

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]

Please prevent freeze thaw cycles. [raybiotech.com]