Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes

Barra, C.; Savoldelli, Roberta Diaz; Manna, Thaís Della; Kim, Chong; Magré, Jocelyne; Porta, Gilda; Setian, Nuvarte; Damiani, Durval

doi:10.1590/s0004-27302011000100007

Cited by 8 publications

(9 citation statements)

References 37 publications

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“…Em 1954, Bernardinelli 7 descreveu, pela primeira vez no Brasil, um conjunto de características que viria a ser denominado lipodistrofia generalizada Congênita ou Síndrome de Berardinelli-Seip em duas crianças, identificando clinicamente acentuada uma redução da quantidade de tecido adiposo, apresentando hipertrofia muscular, mãos e pés grandes e acantose nigricans (condição dermatológica caracterizada por espessamento das linhas da pele, gerando aspecto rugoso no local afetado), além de demais comprometimentos sistêmicos [7][8][9][10] .…”

Section: Discussionunclassified

Síndrome de Berardinelli-Seip e condição de saúde oral: uma revisão de literatura

Medeiros

Farias

Pereira

et al. 2015

Rev. da Fac. de Odontologia, UPF

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Section: Discussionunclassified

Síndrome de Berardinelli-Seip e condição de saúde oral: uma revisão de literatura

Medeiros

Farias

Pereira

et al. 2015

Rev. da Fac. de Odontologia, UPF

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“…5,6 El BSCL1 o AGPAT2, situado en el cromosoma 9q34, codifica una proteína de la familia de las aciltransferasas, que es la enzima 1-acilglicerol-3-0-fosfato aciltransferasa-2, fundamental en la biosíntesis de los glicerofosfolípidos triacilglicerol. El BSCL2 está situado en el cromosoma 11q13, que codifica una proteína llamada seipina, y el CAV1, situado en 7q31, codifica una proteína de la membrana plasmática, la caveolina1.…”

Section: Discussionunclassified

Lipodistrofia congénita generalizada en un paciente con anomalía de Dandy Walker

2014

Arch Argent Pediat

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Arch Argent Pediatr 2014;112(5):e196-e199 / e196Presentación de casos clínicos RESUMEN La asociación entre la lipodistrofia congénita generalizada y la anomalía de Dandy Walker no es habitual. Se reporta el caso de una niña de 1 año de edad que ingresa al hospital a los 4 meses por riesgo social, con diagnóstico de anomalía de Dandy Walker. Durante su internación, se evidencia en forma progresiva aspecto acromegaloide, facies triangular, hirsutismo, lipoatrofia, hipertrofia muscular, clitoromegalia, distensión abdominal con hepatomegalia progresiva e hipertrigliceridemia. Se arriba así al diagnóstico clínico de lipodistrofia congénita generalizada. Se revisan los aspectos clínicos y el seguimiento interdisciplinario para la detección oportuna de insulinorresistencia y diabetes, pubertad precoz, miocardiopatía, entre otras. Respecto de la anomalía de Dandy Walker, se realizan controles evolutivos en búsqueda de la aparición de signos de hipertensión endocraneana. Por el carácter autosómico recesivo de la lipodistrofia congénita generalizada, es importante realizar el asesoramiento genético a los padres. Palabras clave: lipodistrofia generalizada congénita, anomalía de Dandy Walker, resistencia a la insulina, hepatomegalia, hipertrigliceridemia. ABSTRACTThe objective of this study is to describe the unexpected association between the congenital generalized lipodystrophy (CGL) and Dandy Walker anomaly. We report the case of a 1-year-old infant who was hospitalized at her fourth month of life with Dandy Walker anomaly diagnosis and an increased social risk. During her hospitalization, she developed progressively: acromegaloid aspect, triangular fascia, hirsutism, lipoatrophy, muscle hypertrophy, clitoromegaly, abdominal distention, progressive hepatomegaly, and hypertriglyceridemia. This led to the clinical diagnosis of congenital generalized lipodystrophy. Importance should be given to the examination of clinical aspects as well as the interdisciplinary follow-up for proper detection of insulin resistance and diabetes, early puberty, cardiomyopathy, among others. In case of Dandy Walker anomaly, it should be checked the evolution to search intracranial hypertension signs. Lipodistrofia congénita generalizada en un paciente con anomalía de Dandy Walker Congenital generalized lipodystrophy in pacient with Dandy Walker anomalyDue to its autosomal recessive nature, it is important to provide genetic counseling to the parents.

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“…Berardinelli–Seip syndrome has a prevalence of approximately 1 in 10 million (~300 known cases worldwide, with the highest frequency in Brazil) individuals. 17 , 18 Several important mutations have been identified as responsible for causing the syndrome; mutations of AGPAT2 and BSCL2 are responsible for 95% of reported cases of CGL (type 1 and type 2 CGL, respectively). Type 3 CGL is associated with mutations of CAV1 , and type 4 CGL with mutations of PTRF.…”

Section: Congenital Generalized Lipodystrophymentioning

confidence: 99%

New advances in the treatment of generalized lipodystrophy: role of metreleptin

Rodríguez

Mastronardi

Paz-Filho

2015

TCRM

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Recombinant methionyl human leptin or metreleptin is a synthetic leptin analog that has been trialed in patients with leptin-deficient conditions, such as leptin deficiency due to mutations in the leptin gene, hypothalamic amenorrhea, and lipodystrophy syndromes. These syndromes are characterized by partial or complete absence of adipose tissue and hormones derived from adipose tissue, most importantly leptin. Patients deficient in leptin exhibit a number of severe metabolic abnormalities such as hyperglycemia, hypertriglyceridemia, and hepatic steatosis, which can progress to diabetes mellitus, acute pancreatitis, and hepatic cirrhosis, respectively. For the management of these abnormalities, multiple therapies are usually required, and advanced stages may be progressively difficult to treat. Following many successful trials, the US Food and Drug Administration approved metreleptin for the treatment of non-HIV-related forms of generalized lipodystrophy. Leptin replacement therapy with metreleptin has, in many cases, reversed these metabolic complications, with improvements in glucose-insulin-lipid homeostasis, and regression of fatty liver disease. Besides being effective, a daily subcutaneous administration of metreleptin is generally safe, but the causal association between metreleptin and immune complications (such as lymphoma) is still unclear. Moreover, further investigation is needed to elucidate mechanisms by which metreleptin leads to the development of anti-leptin antibodies. Herein, we review clinical aspects of generalized lipodystrophy and the pharmacological profile of metreleptin. Further, we examine studies that assessed the safety and efficacy of metreleptin, and outline some clinical perspectives on the drug.

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Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes

Cited by 8 publications

References 37 publications

Síndrome de Berardinelli-Seip e condição de saúde oral: uma revisão de literatura

Síndrome de Berardinelli-Seip e condição de saúde oral: uma revisão de literatura

Lipodistrofia congénita generalizada en un paciente con anomalía de Dandy Walker

New advances in the treatment of generalized lipodystrophy: role of metreleptin

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