Bilateral basal ganglia involvement in a patient with Griscelli syndrome

Ashrafi, Mahmoud Reza; Mohseni, Meysam; Yazdani, Shahrooz; Alizadeh, Hussain; Ramyar, Asghar; Aghamohammadi, Asghar; Izadyar, Mina; Mahjoub, Fatemeh; Heris, Javad Ahmadian

doi:10.1016/j.ejpn.2006.07.005

Cited by 16 publications

(24 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The majority of the authors reported diffusely abnormal patterns 4,11 . The association between GS and brain malformations can generate changes nonspecific in EEG, as reported by Ashrafi et al 13 However, Alva-Moncayo et al 4 reported a specific EEG pattern with low amplitude, slow background activity and discharges in left temporal region. This report corroborates with our findings and suggests that an EEG pattern could be correlated with GS.…”

Section: Discussionmentioning

confidence: 94%

Griscelli syndrome and electroencephalography pattern

Vieira-Karuta¹,

Silva²,

Almeida³

et al. 2008

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 94%

Griscelli syndrome and electroencephalography pattern

Vieira-Karuta¹,

Silva²,

Almeida³

et al. 2008

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

“…Patients have developmental delay, mental retardation early in life. The neurological deficits are stable and do not progress with time (1,8) . There is not an accelerated phase.…”

Section: Discussionmentioning

confidence: 95%

“…GS type 3 results from a defect in MLPH (melanophilin) on chromosome 2 or MYO5A on chromosome 15 (2) . GS type 3 presents as hypopigmentation of the hair and skin without other findings (1)(2)(3)(4) .…”

Section: Discussionmentioning

confidence: 99%

“…There are three types: Griscelli syndrome type 1 (GS 1): Early severe psychomotor retardation and a normal immune state; Griscelli syndrome type 2 (GS 2): Immune deficiency, hemophagocytic lymphohystiocytosis, and neurological findings in the absence of a primary neurologic disease; Griscelli syndrome type 3 (GS 3): Includes partial albinism with hypopigmentation of the hair and skin (1) . Central nervous system involvement has been described previously.…”

Section: Introductionmentioning

confidence: 99%

“…Griscelli syndrome (GS) is an autosomal recessive disorder with partial albinism, silver gray hair, hepatosplenomegaly, immune deficiency, hemophagocytic lymphohistiocytosis (HL), and neurological manifestations (1,2) . There are three types: Griscelli syndrome type 1 (GS 1): Early severe psychomotor retardation and a normal immune state; Griscelli syndrome type 2 (GS 2): Immune deficiency, hemophagocytic lymphohystiocytosis, and neurological findings in the absence of a primary neurologic disease; Griscelli syndrome type 3 (GS 3): Includes partial albinism with hypopigmentation of the hair and skin (1) .…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Griscelli Syndrome with neurological deterioration: A case report.

Yimenicioglu¹,

Yakut²,

Çarman³

et al. 2017

Okmeydani Medical Journal

View full text Add to dashboard Cite

show abstract

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families

Alsulaiman

Othman

El‐Akouri

et al. 2020

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medical records of 12 individuals with GS2 from six families belonging to a highly consanguineous Qatari tribe and with a recurrent pathogenic variant in the RAB27A gene (NM_004580.4: c.244C > T, p.Arg82Cys). Detailed demographic, clinical, and molecular data were collected. Cutaneous manifestations were the most common presentation (42%), followed by neurological abnormalities (33%) and immunodeficiency (25%). The most severe manifestation was HLH (33%). Among the 12 patients, three patients (25%) underwent HSCT, and four (33%) died. The cause of death in all four patients was deemed HLH, providing evidence for this complication's fatal nature. Interestingly, two affected patients (16%) were asymptomatic. This report highlights the broad spectrum of clinical presentations of GS2 associated with a founder variant in the RAB27A gene (c.244C > T, p.Arg82Cys). Early suspicion of GS2 among Qatari patients with cutaneous manifestations, neurological findings, immunodeficiency, and HLH would shorten the diagnostic odyssey, guide early and appropriate treatment, and prevent fatal outcomes.

show abstract

Bilateral basal ganglia involvement in a patient with Griscelli syndrome

Cited by 16 publications

References 5 publications

Griscelli syndrome and electroencephalography pattern

Griscelli syndrome and electroencephalography pattern

Griscelli Syndrome with neurological deterioration: A case report.

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families

Contact Info

Product

Resources

About