A hemophagocytic syndrome revealing a Griscelli syndrome type 2

Jennane, Selim; Kababri, Maria El; Hessissen, Laïla; Kili, Amina; Nachef, Mohamed Nacer; Messaoudi, N.; Doghmi, Kamal; Mikdame, M.; Khorassani, Mohamed El; Khattab, Mohamed

doi:10.1684/abc.2013.0860

Cited by 3 publications

(4 citation statements)

References 7 publications

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“…However, in 2004, Manglani et al [20] and Rath et al [21] reported several cases from India. In most of the patients, diagnosis was done between the ages of 4 months and 7 years with the youngest occurring at 1 month [22]. In our study, diagnosis was made between the ages 6 months and 9 years.…”

Section: Discussionmentioning

confidence: 84%

Silvery gray hair syndromes: An insight into diagnosis

Hemalata

Rudramurthy

Siddavatam

et al. 2022

Indian J Child Health

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Context: Silvery gray hair syndromes consist of three conditions, Chediak–Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde syndrome (ES), which are rare autosomal recessive diseases presenting in childhood. They have similar skin and hair changes but differ with respect to the other clinical findings. Aim: This retrospective study was taken up to identify the spectrum of silvery gray hair syndromes diagnosed over a period of 10 years (2006-2015) in a super specialty pediatric institute and also to identify characteristic clinical and diagnostic findings. Methods: A total of 17 children diagnosed to have silvery gray hair syndrome over a period of 10 years (2006-2015) at Indira Gandhi Institute of Child Health Hospital, Bengaluru and were studied retrospectively. Complete blood counts, peripheral smear study, and microscopic examination findings of the hair were analyzed. Radiological findings were also considered. Results: The most common syndrome in the study was GS Type II (10 cases) followed by CHS (5 cases), with one case each of GS Type III and ES. Conclusion: This study emphasizes the importance of silvery gray hair as a clue to diagnose these rare genetic disorders with proper clinical examination and simple diagnostic procedures.

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Section: Discussionmentioning

confidence: 84%

Silvery gray hair syndromes: An insight into diagnosis

Hemalata

Rudramurthy

Siddavatam

et al. 2022

Indian J Child Health

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“…Corticosteroids and antiepileptic drugs generally fail to prevent early death caused by severe neurological involvement. To date, no curative treatment is available [ 8 , 9 ]. GS type 3 manifests solely as cutaneous involvement devoid of neurological or immunological sequelae, often leading to delayed diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…The RAB27A protein specifically regulates the secretion of cytotoxic granules. RAB27A abnormalities lead to neutropenia and dysfunction of natural killer (NK) cells, resulting in immunodeficiency and abnormal cytotoxic response that may culminate in uncontrolled lymphocyte and macrophage activation, known as hemophagocytic lymphohistiocytosis syndrome or HLH [ 9 ]. HLH is an inevitable complication of GS type II in the absence of bone marrow transplantation.…”

Section: Discussionmentioning

confidence: 99%

Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome

Bouhafs,

N'joumi,

Elouali

et al. 2024

Cureus

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Griscelli syndrome (GS) type II is a rare hereditary disorder characterized by partial albinism, immunodeficiency, and the subsequent development of hemophagocytic syndrome (HPS). Herein, we present a case involving a four-month-old infant admitted to our facility due to a prolonged fever complicated by HPS. The diagnosis of GS type 2 was established based on a constellation of clinical and laboratory findings: consanguinity, familial history of early infectious fatalities, ocular-cutaneous hypopigmentation, characteristic silvery hair sheen, onset of HPS, and notably, the pathognomonic appearance upon microscopic examination of a hair sample. The absence of giant granules within nucleated cells helped exclude Chediak-Higashi syndrome.

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“…Most patients do not present with neurological impairment, except secondary to leukocyte infiltration in the brain (45,58). In a young boy with Rab27a heterozygous mutation, GS2 was suspected (49).…”

Section: Griscelli Syndrome (Gs)mentioning

confidence: 99%

Genetics of inherited platelet disorders

Gothwal¹,

Sandrock-Lang²,

Zieger³

2014

Hamostaseologie

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The current review describes inherited platelet disorders, illustrates their clinical phenotype and molecular genetic defects. Platelets are the key molecules mediating haemostasis via adhesion, activation and clot formation at the site of injury. The inherited platelet disorders can be classified according to their platelet defects: receptor/cytoskeleton defects, secretion disorder, and signal transduction defect. Patients with inherited thrombocytopathia present with mucous membrane bleedings (epistaxis, gingival bleeding) and may present with serious life threatening bleedings following surgery or trauma. Therefore, biochemical and molecular genetic characterization of inherited platelet disorders is important to understand these disorders and to support an efficient therapy.

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A hemophagocytic syndrome revealing a Griscelli syndrome type 2

Cited by 3 publications

References 7 publications

Silvery gray hair syndromes: An insight into diagnosis

Silvery gray hair syndromes: An insight into diagnosis

Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome

Genetics of inherited platelet disorders

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