Literature DB >> 25315806

Cerebellar involvement of Griscelli syndrome type 2.

Sedat Işikay1.   

Abstract

Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the literature. 2014 BMJ Publishing Group Ltd.

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Mesh：

Year:  2014        PMID： 25315806      PMCID： PMC4202057          DOI： 10.1136/bcr-2014-206703

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  10 in total

1.  Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Authors:  G Ménasché; E Pastural; J Feldmann; S Certain; F Ersoy; S Dupuis; N Wulffraat; D Bianchi; A Fischer; F Le Deist; G de Saint Basile
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

2.  Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.

Authors:  Arushi Gahlot Saini; S Nagaraju; Jitendra Kumar Sahu; Amit Rawat; Sameer Vyas; Pratibha Singhi
Journal:  Neurology       Date:  2014-04-08       Impact factor: 9.910

3.  Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.

Authors:  Kirtisudha Mishra; Shilpy Singla; Suvasini Sharma; Renu Saxena; Vineeta Vijay Batra
Journal:  Korean J Pediatr       Date:  2014-02-24

4.  Bilateral basal ganglia involvement in a patient with Griscelli syndrome.

Authors:  Mahmoud Reza Ashrafi; Meysam Mohseni; Shahrooz Yazdani; Houman Alizadeh; Asghar Ramyar; Asghar Aghamohammadi; Mina Izadyar; Fatemeh Mahjoub; Javad Ahmadian Heris
Journal:  Eur J Paediatr Neurol       Date:  2006-09-06       Impact factor: 3.140

5.  Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly.

Authors:  Mamata Rajadhyax; Gayatri Neti; Yanick Crow; Atul Tyagi
Journal:  Brain Dev       Date:  2006-11-07       Impact factor: 1.961

6.  Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

Authors:  Marie Meeths; Yenan T Bryceson; Eva Rudd; Chengyun Zheng; Stephanie M Wood; Kim Ramme; Karin Beutel; Henrik Hasle; Carsten Heilmann; Kjell Hultenby; Hans-Gustaf Ljunggren; Bengt Fadeel; Magnus Nordenskjöld; Jan-Inge Henter
Journal:  Pediatr Blood Cancer       Date:  2010-04       Impact factor: 3.167

7.  Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

Authors:  Gaël Ménasché; Chen Hsuan Ho; Ozden Sanal; Jérôme Feldmann; Ilhan Tezcan; Fügen Ersoy; Anne Houdusse; Alain Fischer; Geneviève de Saint Basile
Journal:  J Clin Invest       Date:  2003-08       Impact factor: 14.808

Review 8.  Linking albinism and immunity: the secrets of secretory lysosomes.

Authors:  Jane Stinchcombe; Giovanna Bossi; Gillian M Griffiths
Journal:  Science       Date:  2004-07-02       Impact factor: 47.728

9.  Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Authors:  Yair Anikster; Marjan Huizing; Paul D Anderson; Diana L Fitzpatrick; Aharon Klar; Eva Gross-Kieselstein; Yackov Berkun; Gila Shazberg; William A Gahl; Haggit Hurvitz
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

10.  A syndrome associating partial albinism and immunodeficiency.

Authors:  C Griscelli; A Durandy; D Guy-Grand; F Daguillard; C Herzog; M Prunieras
Journal:  Am J Med       Date:  1978-10       Impact factor: 4.965
  10 in total
  2 in total

Review 1.  Neuroinflammation Associated With Inborn Errors of Immunity.

Authors:  Hannes Lindahl; Yenan T Bryceson
Journal:  Front Immunol       Date:  2022-01-19       Impact factor: 7.561

2.  Hemiparesis Revealing a Unique Neurological Hemophagocytic Lymphohistiocytosis in a Patient With Griscelli Syndrome Type 2.

Authors:  Othman Moueqqit; Ghanam Ayad; Madiha Benhachem; Abdelilah Lahmar; Hiba Ramdani; Miry Nadir; Mohammed Bensalah; Amal Bennani; Imane Kamaoui; Rachid Seddik; Noufissa Benajiba
Journal:  Cureus       Date:  2022-09-14
  2 in total

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