Griscelli syndrome

Rath, Sanjeev; Jain, Vivek; Marwaha, R. K.; Trehan, Amita; Rajesh, L. S.; Kumar, Vijay

doi:10.1007/bf02723104

Cited by 11 publications

(7 citation statements)

References 10 publications

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“…There are only 10 case reports from India of GS2, with report of no cases of GS1 and GS3. [456789101112] Although, history of consanguineous marriage was not forthcoming in our case. It cannot be ruled out as parents were married in same caste and same gotra of highly inbred society (teli or bania) of Hindu religion.…”

Section: Discussionmentioning

confidence: 83%

An Indian boy with griscelli syndrome type 2: Case report and review of literature

et al. 2014

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Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. We also evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region.

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Section: Discussionmentioning

confidence: 83%

An Indian boy with griscelli syndrome type 2: Case report and review of literature

et al. 2014

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“…Further, two other extremely rare syndromes i.e. Griscelli syndrome (GS) and Elejalde syndrome (ES) also clinically mimic CHS [4,[7][8][9]. Both are characterized by skin hypopigmentation, silvery gray hair, central nervous system dysfunction in infancy and childhood and very large unevenly distributed granules of melanin in the hair shaft and skin.…”

Section: Discussionmentioning

confidence: 99%

“…The case is being reported due to its extreme rarity. The differential diagnosis is also discussed with few other syndromes presenting with similar clinical features [4,[7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Chédiak-Higashi Syndrome: A Case Report

Patne

Kumar

Bagri

et al. 2012

Indian J Hematol Blood Transfus

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Chédiak-Higashi syndrome (CHS) is an extremely rare autosomal recessive immunodeficiency disorder. Approximately 200 cases have been reported worldwide. To the best of our knowledge, not more than 10 cases have been reported from India. Herein we are reporting a case of CHS in one-and-half-year-old boy who presented to us in the accelerated phase of disease. Other syndromes presenting with similar clinical features have also been discussed.

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“…Griscelli and Prunieras 1 , in the first description of the syndrome, did not described any neurologic manifestations. Latter, many authors reported the presence of seizures, intracranial hypertension, hemiparesis, facial palsy, hypotonia, psychomotor and language delay, progressive neurologic deterioration, cerebellar signs and spasticity [4][5][6][7][8][9][10][11][12] . According to Malhotra et al 3 severe neurologic abnormalities are common in GS type 1 and may be absent in GS type 2.…”

Section: Discussionmentioning

confidence: 99%

“…The main syndromes that should be considered in the differential diagnosis are Chediak-Higashi and Elejalde syndrome. This differentiation can be made through microscopic hair analysis and skin biopsy, and by the presence or absent of abnormalities in the granulocytes 9 . This case report was approved by the ethics committee of Pequeno Principe Hospital and parental written informed consent was obtained for publication.…”

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confidence: 99%