Blog - INTERNET MÉDICA

Síndrome de Gillespie (Gillespie Syndrome)

Por Paulo Leite 14/11/2020

A tríade de aniridia, ataxia congênita e deficiência intelectual caracteriza a síndrome de Gillespie, uma doença recessiva ou dominante causada por mutações no gene ITPR1. A ausência de parte ou de toda a íris é chamada de aniridia.

■ Aniridia as a clue for the diagnosis of Gillespie syndrome.

Rezende Filho, Flávio Moura et al

Arq. Neuro-Psiquiatr., June 2020, vol.78, no.6, p.383-383

https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000600383&lng=pt&nrm=iso

■ The genetic architecture of aniridia and Gillespie syndrome

Hildegard Nikki Hall, Kathleen A. Williamson, David R. FitzPatrick

Hum Genet. 2019; 138(8): 881–898

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710220/

■ Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri et al

BMC Pediatr. 2018; 18: 308

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154888/

■ The genetic of aniridia – simple things becomme complicated

Anna Wawrocka, Maciej R. Krawczynski

J Appl Genet. 2018; 59(2): 151–159

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895662/

■ Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromme

Maria Lisa Dentici, Sabina Barresi, Marta Nardella, et al

Gene. 2017 Sep 10; 628: 141–145

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607352/

■ A restricte repertoire de De Novo mutationns in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect

M McEntagart, K A Williamson, J K Ranger

Am J Hum Genet 2016, ,vol 98 (5): 981-992

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863663/

■ Recessive and dominant De Novo ITPR1 mutations cause Gillespie syndrome

Sylvie Gerber, Kamil J. Alzayady, Lydie Burglen et al

Am J Hum Genet. 2016 May 5; 98(5): 971–980

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863566/

■ Dr Paulo Fernando Leite

Consultório: Rua Padre Rolim 815/sala 601 – Belo Horizonte/MG/Brasil

Tel: 33245518

CRMMG: 7026

Email: pfleite1873@gmail.com

Blog Internet Médica – www.internetmedica.com.br

MWS Pesquisa Médica – www.mwspesquisamedica.com.br

Data: novembro 2020

Síndrome de Kleine-Levin (Kleine-Levin Syndrome)

Por Paulo Leite 13/11/2020

É o distúrbio do sono (hipersonia) recorrente mais comum, com uma prevalência de 1-2 por milhão de habitantes. Os critérios de diagnóstico da síndrome de Kleine-Levin assentam na trilogia inicialmente proposta: hipersõnia (diurna ou noturna), hiperfagia e hipersexualidade. Esta síndrome, que ocorre nos homens jovens, caracteriza-se por crises de hipersonia, três a quatro vezes por ano, durando até dois dias, com hiperfagia, hipersexualidade, irritabilidade e confusão ao despertar. Em geral, desaparece depois dos 40 anos de idade. O tratamento eficaz permanece indefinido. Segundo pesquisadores atuais, os estudos sugerem que esta síndrome não é tão benigna quanto se considerava anteriormente

■ Kleine-Levin syndrome: clues to aetiology

Saad Mohammed AlShareef, Richard Mark Smith, Ahmed Salem BaHammam

Sleep Breath. 2018; 22(3): 613–623

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133116/

■ The sleep architecture of Saudi Arabian patients with Kleine-Levin syndrome

Saad M. Al Shareef, Aljohara S. Almeneessier, Omeima Hammad et al

Saudi Med J. 2018 Jan; 39(1): 38–44

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885119/

■ Familial Kleine-Levin syndrome: a specific entity

Quang Tuan Remy Nguyen, Elisabeth Groos, Laurène Leclair-Visonneau et al

Sleep. 2016 Aug 1; 39(8): 1535–1542

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945312/

■ Long-term cognitive impairment in Kleine-Levin syndrome

Ginevra Uguccioni, Sophie Lavault, Charlotte Chaumereuil, et al

Sleep. 2016 Feb 1; 39(2): 429–438

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712402/

■ Widespread hypermetabolism in symptomatic and asymptomatic episodes in Kleine-Levin syndrome

Yves Dauvilliers, Sophie Bayard, Régis Lopez, et al

PLoS One. 2014; 9(4): e93813

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974864/

■ Prevalence and mimics of Kleine-Levin syndrome: a survey in French-Speaking Switzerland

Oussama Habra, Raphaël Heinzer, Jose Haba-Rubio, Andrea O. Rossetti

J Clin Sleep Med. 2016 Aug 15; 12(8): 1083–1087.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957185/

■ Familial Kleine-Levin syndrome: a specific entity?

Quang Tuan Remy Nguyen, Elisabeth Groos, Laurène Leclair-Visonneau et al

Sleep. 2016 Aug 1; 39(8): 1535–1542

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945312/

■ Prevalence and mimics of Kleine-Levin syndrome: a survey in French-Speaking Switzerland

Oussama Habra, Raphaël Heinzer, Jose Haba-Rubio, Andrea O. Rossetti

J Clin Sleep Med. 2016 Aug 15; 12(8): 1083–1087

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957185/

■ Pharmacological treatment for Kleine-Levin syndrome

Marcio M de Oliveira, Cristiane Conti, Gilmar F Prado, Cochrane Epilepsy Group

Cochrane Database Syst Rev. 2016 May; 2016(5): CD006685

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7386458/

■ Kleine-Levin syndrome: a review

Mitchell G Miglis, Christian Guilleminault

Nat Sci Sleep. 2014; 6: 19–26

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901778/

■ Functional magnetic resonance imaging in narcolepsy and the Kleine-Levin syndrome

Maria Engström, Tove Hallböök, Attila Szakacs et al

Front Neurol. 2014; 5: 105

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069720/

■ História natural da síndrome de Kleine-Levin: revisão e discussão.

Lima, Dênio and Zagalo-Cardoso, José Antônio

Rev. psiquiatr. Rio Gd. Sul, 2009, vol.31, no.3, p.1-10

https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-81082009000400003&lng=en&nrm=iso

■ Síndrome de Kleine-Levin: caso clínico e dificuldades de diagnóstico