Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association

Alzu’bi, Ali A.; Al-Sarihin, Khaldon; Eteiwi, Suzan; Al-Asaad, Rania A.; Eyadah, Abdallah A. Al; Khreisat, Maysa; Alomari, Ahmed K.; Haddad, Fares

doi:10.5001/omj.2020.53

Cited by 4 publications

(5 citation statements)

References 19 publications

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“…Alzu'bi et al. reported essential thrombocytosis in Berardinelli–Seip syndrome patients, but our case showed mild thrombocytopenia which can be caused by the same reason as unknown hemoglobinopathy diagnose of the patient 12 . Since the spleen size was normal, hypersplenism was excluded.…”

Section: Discussionmentioning

confidence: 53%

“…Seip syndrome patients, but our case showed mild thrombocytopenia which can be caused by the same reason as unknown hemoglobinopathy diagnose of the patient. 12 Since the spleen size was normal, hypersplenism was excluded. These findings indicate that phenotype variations can be extensive in this disease.…”

Section: Alzu'bi Et Al Reported Essential Thrombocytosis In Berardine...mentioning

confidence: 99%

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Liver transplantation in patient with Berardinelli–Seip syndrome: A literature review and case report

Aliyev,

Samadov,

Ibrahimli

et al. 2023

Pediatric Transplantation

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BackgroundBerardinelli–Seip syndrome is an infrequently seen and potentially fatal genetic disorder characterized by the absence of adipose tissue. Herein, we report a first‐in‐literature liver transplant done on a 7‐year‐old girl because of liver cirrhosis caused by the Berardinelli–Seip syndrome.Case ReportPhysical examination showed prominent subdermal fat tissue loss and mild muscle hypertrophy, giving her a slim appearance, hirsutism, thick hair, a large head in contrast to the body, low anterior hairline, icterus, prominent facial contours, prominent mandibula, loss of buccal fat, low set ears, and large limbs. After the diagnosis, she admitted to our clinic because of variceal esophageal bleeding and increasing liver enzymes. Transplantation decision was made and orthothopic liver transplantation done by the surgery team.DiscussionCommon causes of death in Berardinelli–Seip syndrome patients are infections and liver cirrhosis. The mean age of the patients was 27.1 at the time of death. There is no any established cure for congenital lipodystrophies so far. However, some symptomatic treatment methods are found to be helpful. The main point of the case report to be discussed is the liver transplantation done by our surgical team. There are no examples of any transplantation in Berardinelli–Seip syndrome patients, but several reports can be found of patients with kidney or liver failure.ConclusionBerardinelli–Seip syndrome is a rare disorder with no cure but a chance of improving lifestyle and life expectancy. The transplantation option should be considered in young patients after a multidisciplinary review.

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Section: Discussionmentioning

confidence: 53%

Section: Alzu'bi Et Al Reported Essential Thrombocytosis In Berardine...mentioning

confidence: 99%

Liver transplantation in patient with Berardinelli–Seip syndrome: A literature review and case report

Aliyev,

Samadov,

Ibrahimli

et al. 2023

Pediatric Transplantation

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“…Insulina, sulfonilureias, metformina e pioglitazona são usados para controlar a hiperglicemia, enquanto fibras e estatinas podem ser usadas para controlar a hipertrigliceridemia. A plasmaferese é uma opção para reduzir os níveis perigosamente altos de triglicerídeos para controlar xantomas dolorosos e prevenir a pancreatite (Alzu'bi, et al, 2020). No entanto, em casos graves, essas medidas podem não controlar o desajuste metabólico.…”

Section: Resultsunclassified

Lipodistrofia generalizada congênita: uma revisão bibliográfica

Bispo

Freitas²

2023

RSD

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Introdução: A Lipodistrofia generalizada congênita é uma patologia que apresenta imensa gama de manifestações clínicas, com inúmeros fatores de risco e importante índice de complicações. Objetivo: O objetivo do trabalho consiste em revisar bibliograficamente a Lipodistrofia congênita, apresentando o quadro clínico, diagnóstico e tratamento preconizado, levando em consideração a baixa incidência de casos relatados e a gravidade da patologia. Método: Uma revisão narrativa de literatura foi realizada utilizando as bases de dados: PubMed, Scielo e UpToDate. Os descritores utilizados foram: “Lipodistrofia”; “Lipodistrofia Generalizada Congênita”, “Resistência insulínica” e “Síndrome Metabólica”. Foram selecionados artigos completos, encontrados nos idiomas: português, inglês ou espanhol. 298 artigos foram pré-selecionados e após verificar-se os critérios de inclusão e exclusão, restaram 33 estudos que foram utilizados para compor o trabalho. Resultados e discussão: A fisiopatologia esta associada a mutações em genes que codificam para diferentes proteínas, que estão envolvidas nas várias etapas da formação de gotículas lipídicas em adipócitos. O quadro clínico mais relatado é relacionado a hepatomegalia e hipertrofia muscular, porém as características podem ser variáveis por tratar-se de uma alteração genética importante. Nota-se frequente associação a intolerância a glicose, hiperinsulinismo, diabetes mellitus, hipertrigliceridemia, esteatose hepática, musculatura proeminente, cardiomiopatia hipertrófica e cistos. O diagnóstico é normalmente clínico, mas necessita da confirmação através do teste genético. O tratamento está relacionado com a gravidade e as complicações apresentadas pelo individuo. Conclusão: estudos quanto ao assunto são necessários para garantia de diagnóstico precoce e acompanhamento dos indivíduos desde a fase pediátrica.

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“…Regarding thrombocytosis, the patient underwent JAK2 analysis, which was negative, and was referred to Haematology for further study. To the best of our knowledge, there is only one reported case of an association between BSCL and essential thrombocytosis [1] . BSCL has an autosomal recessive mode of transmission, so all of the patient's children were tested, but none were positive for the disease.…”

Section: Major Criteria Minor Criteriamentioning

confidence: 98%

Section: Case Descriptionmentioning

confidence: 99%

Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event

Beires

Greenfield

Silva

et al. 2022

European Journal of Case Reports in Internal Medicine

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A 60-year-old man, with a history of familial lipodystrophy, hypertriglyceridaemia, hepatic steatosis and bone cysts, was admitted due an acute coronary event. Coronary angiography showed significant stenosis in the left anterior descending artery, which was treated. Transthoracic echocardiography showed a slightly dilated left ventricle with diffuse and heterogeneous thickening of its walls, slightly decreased left ventricular function and reduced global longitudinal strain. Due to these echocardiographic findings, cardiac magnetic resonance imaging was requested, which identified intramyocardial diffuse fibrosis of the basal septum and points of insertion of the left and right ventricles, without oedema, microvascular obstruction or myocardial infarction. Owing to the constellation of symptoms and distinctive features on cardiac imaging, a diagnosis of Berardinelli-Seip congenital lipodystrophy (BSCL) was suspected, which was confirmed through genetic testing of the pathogenic variants in BSCL2 and AGPAT2. BSCL is a rare autosomal recessive syndrome characterized by the congenital absence of adipose tissue and triglyceride deposition in other tissues, such as muscle, liver and heart.

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Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association

Cited by 4 publications

References 19 publications

Liver transplantation in patient with Berardinelli–Seip syndrome: A literature review and case report

Liver transplantation in patient with Berardinelli–Seip syndrome: A literature review and case report

Lipodistrofia generalizada congênita: uma revisão bibliográfica

Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event

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