Blog - INTERNET MÉDICA

Síndrome de Bloom Online (Bloom´s Syndrome)

Por Paulo Leite 30/05/2019

¨A síndrome de Bloom é doença autossômica recessiva rara. Caracteriza-se por fotossensibilidade, retardo de crescimento, hipogonadismo, imunodeficiência e predisposição para desenvolvimento de malignidades. É causada por mutação no gene BLM (15q26.1), que codifica a proteína DNA helicase, essencial à manutenção da estabilidade cromossômica. Há aumento de quebras e rearranjos, com trocas entre cromátides irmãs e formação de figuras tri ou quadri-radiais. A instabilidade cromossômica é responsável pelo fenótipo e pela tendência para malignidades dos pacientes com síndrome de Bloom. O diagnóstico é clínico e pode ser confirmado pela observação do aumento de trocas entre cromátides irmãs em células expostas à bromodeoxiuridina (mais de 50 por metáfase). A desordem foi primeiramente relatada e é mais freqüente em judeus, mas já tem sido detectada em vários outros grupos étnicos. Os pacientes apresentam face típica (face de passarinho), – microcefalia, dolicocefalia, face triangular, hipoplasia malar, micrognatismo e nariz proeminente. As lesões dermatológicas iniciam-se na infância, após exposição solar. Caracterizam-se por eritema e teleangiectasia em áreas fotoexpostas, principalmente em face. As teleangiectasia tendem a desaparecer com o tempo e são substituídas por atrofia e discromia. As manchas café-com-leite são encontradas em cerca de metade dos pacientes, e máculas hipocrômicas também são comuns, constituindo as twin spots. A baixa estatura de início pré-natal é característica. Os homens acometidos são inférteis devido à azospermia, e as mulheres, raramente férteis, entram em falência ovariana prematura. Os indivíduos afetados podem apresentar inteligência normal ou déficits cognitivos, de atenção e memória. São observados graus variados de imunodeficiência celular e humoral, causando infecções de repetição na infância (otite média e pneumonia). Em muitos casos detecta-se diminuição de imunoglobulinas. Tumores malignos surgem em quase metade dos portadores dessa síndrome, de forma precoce e em sítios variados (leucemias agudas, linfomas e carcinomas), sendo a causa mais comum de óbito. Mielodisplasia, diabetes melito tipo 2 e doença pulmonar crônica são complicações também relatadas. A sobrevida além dos 40 anos é rara. Na ausência de tratamento específico, a abordagem deve focar a fotoproteção, correção de distúrbios hormonais, detecção precoce de malignidades e aconselhamento genético.¨

■ Immunodeficiency in Bloom´s syndrome

Michiel H. D. Schoenaker, Stefanie S. Henriet, Jip Zonderland, et al

J Clin Immunol. 2018; 38(1): 35–44

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742600/

■ Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families

Mary Beth Campbell, Wesley C. Campbell, James Rogers et a

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002816

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880269/

■ Bloom syndrome with myelodisplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria

Sara Aljarad, Ahmad Alhamid, Ahmad Rami Rahmeh et al

Oxf Med Case Reports. 2018 Dec; 2018(12): omy096

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217711/

■ Bloom´s syndrome: Why not premature aging? A comparison of the BLM and WRN helicases

Christelle de Renty, Nathan A. Ellis

Ageing Res Rev. 2017 Jan; 33: 36–5

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124422/

■ Bloom´s syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition

C Cunniff, J A Bassetti, N A Ellis

Mol Syndromol 2017, vol 8 (1): 4-13

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260600/

■ Bloom syndrome helicase in meiosis: pro-crossover functions of an anti-crossover protein

Talia Hatkevich, Jeff Sekelsky

Bioessays. 2017 Sep; 39(9): 10.1002/bies.201700073

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577929/

■ Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM

Vivek M. Shastri, Kristina H. Schmidt

Mol Genet Genomic Med. 2016 Jan; 4(1): 106–119

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707026/

■ Bloom´s syndrome in an Indian man in the UK

Rajni Vekaria, Ree’Thee Bhatt, Ponnusamy Saravanan, Richard C de Boer

BMJ Case Rep. 2016; 2016: bcr2015212297

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716321/

■ Adenocarcinoma of the right colon in a patient with Bloom syndrome

C A R Martinez, L V Pinheiro, D H Rossi et al

Case Reports in Surgery 2016, Article ID 3176842, 5 pages

https://www.hindawi.com/journals/cris/2016/3176842/

■ Bloom syndrome radials are non-homologous and are suppressed by phosphorylated BLM

Nichole Owen, James Hejna, Scott Rennie et al

Cytogenet Genome Res. 2014; 144(4): 255–263

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406812/

■ Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms´s tumor: two case reports

Marilia Borges Moreira, Caio Robledo DC Quaio, Aline Cristina Zandoná-Teixeira et al

J Med Case Rep. 2013; 7: 284.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897898/

■ More complexity to the Bloom´s syndrome complex

Yilun Liu, Stephen C. West

Genes Dev. 2008 Oct 15; 22(20): 2737–2742

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751278/

■ Você conhece esta síndrome?

A C B de Resende, L Baptista Pereira, B M F de Melo et al

An Bras Dermatol 2007, vol 82 (4)

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962007000400011

■ Dr Paulo Fernando Leite

Cardiologia/Prevenção Cardiovascular

Estratificação de Risco Cardiovascular

Novo endereço:

Consultório: Rua Padre Rolim 815/sala 815

Tel: 33245518 (Consulta Particular/Unimed)

– Centro Médico Unimed BH/Contagem/Pedro I

Belo Horizonte/MG/Brasil

CRMMG: 7026

Email: pfleite1873@gmail.com

Neuropsiquiatria: Casos Clínicos Online (Neurosychiatry: Case Reports)

Por Paulo Leite 28/05/2019

■ Intensive outpatient treatment of depression in a spinocerebellar ataxia type 1 patient

Eric Black

Case Rep Psychiatry. 2019; 2019: 918679

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388339/

■ The use of quetiapine in treatment of acute psychotic symptoms in an adolescent patient with primary brain calcification: a case report

Barbara Plemeniti Tololeski, Maruša Debeljak, Mirjana Perkovič Benedik et al

BMC Psychiatry. 2019; 19: 67.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371472/

■ Delayed-onset seizure in a mild quetiapine overdose: report of a case and review of the literature

Jason A. Chen, Katherine M. Unverferth, Erick H. Cheung

Case Rep Psychiatry. 2018; 2018: 7623051

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977051/

■ Citalopram improves obsessive-compulsive crossword puzzling in frontotemporal dementia

Sebastian Meyer, Karsten Mueller, Christin Gruenewald, et al

Case Rep Neurol. 2019 Jan-Apr; 11(1): 94–105

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465705/

■ Attempted suicide in a parkinsonian patient treated with DBS of the VIM and high dose carbidopa-levodopa

Ayotunde Ayobello, Brian Saway, Michael Greenage

Case Rep Psychiatry. 2019; 2019: 2903762

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457313/

■ Neuropsychiatric manifestation of partial agenesis of the corpus calloson: a case report and literature review

Olusegun Popoola, Olaniyi Olayinka, Heela Azizi, et al

Case Rep Psychiatry. 2019; 2019: 5925191

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452548/

■ Perampanel-induced, new-onset food aversion in a 29-year-old female with medically refractory frontal lobe epilepsy

Marketa Marvanova

Ment Health Clin. 2019 Mar; 9(2): 100–104

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398359/

■ Propranolol for mirtazapine-induced akathisia: single case report

Katherine Koller

Ment Health Clin. 2019 Jan; 9(1): 61–63

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322814/

■ Lithium: contributor to movement disorder sensitivity after anoxic brain injury?

Jennifer L Pikard, Dijana Oliver, Justin Saraceno, Dianne Groll

SAGE Open Med Case Rep. 2019; 7: 2050313X18823101

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330727/

■ The use of clozapine and clonazepam co-administration in the treatment of a severe tardive dyskinesia: a case report

Kibrom Haile, Halima Umer

SAGE Open Med Case Rep. 2019; 7: 2050313X19833254

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393946/

■ Exarcebations of psychosis triggered by a synthetic cannabinoid in a 70-year-old woman with Parkinson disease

Sean J. Udow, Maria Eliza Freitas, Susan H. Fox, Anthony E. Lang

CMAJ. 2018 Jan 15; 190(2): E50–E5

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770252/

■ Cognitive and psychiatric changes as first clinical presentation in Sneddon syndrome

Giorgio Fabiani, Raul Martins, Filho, Gelson Luis Koppe et al

Dement Neuropsychol. 2018 Apr-Jun; 12(2): 216–219

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022978/

■ Acute agitation as an initial manifestation of neuro-Behçet´s disease

Yuki Otsuka, Tetsuya Yumoto, Hiromi Ihoriya, et al

Case Rep Emerg Med. 2018; 2018: 5437027

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304506/

■ A case report of guardian-consent forced paliperidone palmitate for behavioral disturbance due to traumatic brain injury

Amber R. Douglass, Uyen Smyth

Ment Health Clin. 2018 May; 8(3): 155–15

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007642/

■ Combination of venlafaxine and phentermine/topiramate induced psychosis: a case report

Jaclyn Homola, Robin Hieber

Ment Health Clin. 2018 Mar; 8(2): 95–99

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007738/

■ A case of traumatic brain injury presenting with musical hallucinations

Yasutaka Kobayashi

Case Rep Neurol. 2018 Jan-Apr; 10(1): 7–11

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836244/

■ Those who hear music: three cases on musical hallucinations

Yasira Doluweera, Chathurie Suraweera

Case Rep Psychiatry. 2018; 2018: 9361382

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040295/

■ Quejas de memoria en demencia frontotemporal variante conductual: a propósito de un caso

Pavez R., Axel, Delgado D., Carolina and Martínez S., Melissa

Rev. chil. neuro-psiquiatr., 2018, vol.56, no.1, p.57-6

https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0717-92272018000100057&lng=es&nrm=iso

■ Aripiprazole for the treatment of inappropriate sexual behavior: case report of an Alzheimer´s disease patient known as heterosexual with recently shifted sexual orientation to same gender

Sevda Sarikaya, Basar Sarikaya

J Alzheimers Dis Rep. 2018; 2(1): 117–121

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159613/

■ Management of psychosis in a patient with probable dopa-responsive dystonia

Maggie Wang, Joseph I. Sison

Case Rep Psychiatry. 2018; 2018: 8040491

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022308/

■ Huntington´s disease in a patient misdiagnosed as conversion disorder

João Machado Nogueira, Ana Margarida Franco, Susana Mendes et al

Case Rep Psychiatry. 2018; 2018: 3915657

https://www.hindawi.com/journals/crips/2018/3915657/

■ Worsening choreoathetosis in Huntigton´s disease with fluoxetine, lisdenxamfetamine, and melatonin: a case report

Clayton J. Hamilton, Tysen K. Timmer, Robert C. Munjal, et a

Innov Clin Neurosci. 2018 Jul-Aug; 15(7-8): 27–31

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145609/

■ The pathophysiology and management o coprophagia: a report of two cases and literature review

Heela Azizi, Tasmia Khan, Cecilia Canale et al

Case Rep Psychiatry. 2018; 2018: 515787

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276428/

■ Leucoencefalopatia induzida por metotrexato: relato de case leukoencephalopathy associated with methotrexat: a case report

L G de Souza, I T F Silva, F R P V Santos et al

Revista Brasileira de Neurologia e Psiquiatria 2018, vol 22 (2)

https://rbnp.emnuvens.com.br/rbnp/article/view/410/155

■ Early-onset psychosis in an adolescent with DiGeorge syndrome: a case report

Keneilwe Molebatsi, Anthony A. Olashore

S Afr J Psychiatr. 2018; 24: 1164

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138118/

■ Episodic behavioural regression in a 8-year-old female: sequelae of 22q11.2 duplication syndrome

Bahji, S. Khalid-Khan

Case Rep Psychiatry. 2018; 2018: 1394356.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106909/

■ Prosopagnosia as a type of conversion disorder

Clodagh Power, Oisin Hannigan, Robert Coen et al

Case Rep Psychiatry. 2018; 2018: 5972954

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831923/

■ ¨Capgras¨ delusions involving belongings, not people, and evolving visual hallucinations associated with occipital lobe seizures

Brandon Lilly, Erika Maynard, Kelly Melvin, Suzanne Holroyd

Case Rep Psychiatry. 2018; 2018: 1459869

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863322/

■ Othello syndrome secondary to subthalamic deep brain stimulation in Parkinson´s disease

E Soltan, A Antosik-Wojcinska, D Koziorowski et al

Journal of Neuropsychiatry 2017, vol 1 (1)

http://neuropsychiatry.imedpub.com/othello-syndrome-secondary-to-subthalamicdeep-brain-stimulation-in-parkinsons-disease.php?aid=20012

■ Ataque isquêmico transitório e estado de mal epiléptico como manifestações de intoxicação aguda e abstinência por crack e cocaína

L C LLCMS, P R C Martins, E N Loures et al

Revista Brasileira de Neurologia e Psiquiatria 2017, vol 21 (2)

https://rbnp.emnuvens.com.br/rbnp/article/view/188

■ Ketamine theraphy for treatment-resistant depression in a patient with multiple sclerosis: a case report

Michael M. Messer, Irina V. Haller

Innov Clin Neurosci. 2017 Jan-Feb; 14(1-2): 56–59

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373796/

■ Course of neuropsychiatric symptoms during flares of systemic lupus erythematosus (SLE)

Gareth Garrett, Nicola Ambrose, Zaib Davids, Dorothea Bindman

Case Rep Psychiatry. 2017; 2017: 2890436

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343231/

■ A case of neuropsychiatric lupus erythematosus characterized by the Owl´s eye sign: a case report

B Hu, P Wu, Y Zhou et al

BMC 2017, vol 17: 123

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5492281/

■ Misdiagnoses of epilepsy as Ekbom syndrome, mood instability, and nocturnal visual hallucinations

Duarte Mangas, Y. Martins, L. Bravo, A. Matos Pire

Case Rep Psychiatry. 2017; 2017: 396875

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■ A case of sporadic Creutzfeld-Jakob disease presenting as conversion disorder

Nikhil Yegya-Raman, Rehan Aziz, Daniel Schneider et al

Case Rep Psychiatry. 2017; 2017: 2735329

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■ The treatment of clozapine-withdrawal delirium with electroconvulsive therapy

Anish Modak, Arne Åhlin

Case Rep Psychiatry. 2017; 2017: 1783545

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688366/

■ Psychosis in a 15-year-old female with herpes simplex encephalitis in a background of mannose-binding lecitina deficiency

Kenneth Asogwa, Kwame Buabeng, Amarjit Kaur

Case Rep Psychiatry. 2017; 2017: 1429847

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316453/

■ Hemiataxia: a novel presentation of anti-NMDA receptor antibody mediated encephalitis in an adolescent

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Case Rep Psychiatry. 2017; 2017: 1310465

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■ Tramadol-induced mood elevation in a patient with no previous psychiatric history

Mugtaba Osman, Mashael Mustafa

Case Rep Psychiatry. 2018; 2018: 9574395

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188767/

■ Treatment of acute psychosis with second-generation antipsychotics in a patient with left temporal lobe lesion

Richard Shehane, Steve Miller, Luke Suber, Miranda Chakos

Case Rep Psychiatry. 2018; 2018: 9839252.

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■ Camptocormia in an adolescente: a case report and review of the literature

Laura Kaplan, Erik Aurigemma, Timothy Sullivan, Richard Sidlow

Case Rep Psychiatry. 2018; 2018: 4606171

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■ Catatonia ictal en el Servicio de Urgencia: una rara forma de presentación del estado epiléptico no convulsivo

Gaete, Germán and Velásquez, Álvaro

Rev. méd. Chile, Ene 2017, vol.145, no.1, p.126-130

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■ Neuropsychiatric manifestation in a patient with panhypopituitarism

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Case Reports in Psychiatry 2017, Article ID 5082687, 3 pages

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■ Psychiatric symptoms as the first clinical presentation of multiple sclerosis: a case report

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■ Distressing visual hallucinations after treatment with trazodone

Gustavo Santos, Ana Maria Moreira

Case Rep Psychiatry. 2017; 2017: 6136914

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■ A case report of Lhemrmitte-Duclos disease revealed by psychiatric disturbance

Yassine Otheman, Rachid Aalouane, Chadia Aarab, Ismail Rammouz

Ann Gen Psychiatry. 2017; 16: 24

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■ Tourette syndrome associated with attention deficit hyperactivity disorder: the impact o tics and psychopharmacological treatment options

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