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Journal articles on the topic 'Syndrome of Berardinelli'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Prasad, Col AN. "Berardinelli Seip Syndrome." Medical Journal Armed Forces India 62, no. 1 (2006): 83–84. http://dx.doi.org/10.1016/s0377-1237(06)80170-x.

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2

Das, G. P., and Lakshmi Mehta. "Seip-Berardinelli syndrome." Indian Journal of Pediatrics 58, no. 5 (1991): 695. http://dx.doi.org/10.1007/bf02820194.

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3

Das, G. P., and Lakshmi Mehta. "Seip-berardinelli syndrome." Indian Journal of Pediatrics 58, no. 4 (1991): 551–53. http://dx.doi.org/10.1007/bf02750941.

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4

Machado, Pedro Vale, Egon Luiz Rodrigues Daxbacher, Daniel Lago Obadia, Edna Ferreira da Cunha, Maria de Fátima Guimarães Scotelaro Alves, and Danielle Mann. "Do you know this syndrome?" Anais Brasileiros de Dermatologia 88, no. 6 (2013): 1011–13. http://dx.doi.org/10.1590/abd1806-4841.20132178.

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Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyc

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5

Bande-Fernández, José Joaquín, Raúl García-Castro, José Emilio Sánchez-Alvarez, et al. "Berardinelli-Seip syndrome in peritoneal dialysis." Nefrología (English Edition) 35, no. 5 (2015): 493–96. http://dx.doi.org/10.1016/j.nefroe.2015.11.005.

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6

Kazandjieva, Jana, Dimitrina Guleva, Sonya Márina, Assya Nikolova, Gergana Mladenova, and Alexander Kurtev. "Berardinelli-Seip Syndrome - A Case Report." Serbian Journal of Dermatology and Venereology 8, no. 2 (2016): 101–4. http://dx.doi.org/10.1515/sjdv-2016-0010.

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Abstract Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome (BSS), is a rare autosomal recessive disease characterized by near total absence of adipose tissue and muscular hypertrophy. Additional common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. An 11-year-old girl was admitted to our Clinic presenting with hyperandrogenic features, generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck,

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7

Ferraria, N., C. Pedrosa, D. Amaral, and L. Lopes. "Berardinelli-Seip syndrome: highlight of treatment challenge." Case Reports 2013, jan28 1 (2013): bcr2012007734. http://dx.doi.org/10.1136/bcr-2012-007734.

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8

Araujo, M., and L. Papendiek. "Berardinelli Seip Syndrome. Analysis of clinical cases." Atherosclerosis 241, no. 1 (2015): e117-e118. http://dx.doi.org/10.1016/j.atherosclerosis.2015.04.409.

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9

van der Pol, Rachel J., Marc A. Benninga, Jocelyne Magré, et al. "Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?" European Journal of Pediatrics 174, no. 7 (2015): 975–80. http://dx.doi.org/10.1007/s00431-015-2556-y.

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Abstract Berardinelli-Seip congenital lipodystrophy (BSCL) is an uncommon autosomal recessive disorder. Patients with BSCL present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. During childhood, diabetes and acanthosis nigricans evolve and female patients may develop hirsutism. Different genes encoding this entity have been described. Achalasia is a rare esophageal motility disorder, characterized by its distinct motility pattern with absent or incomplete lower esophageal sphincter (LES) relaxations. The exact cause of achalasia

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10

Shawky, Rabah M., Radwa Gamal, and Neveen S. Seifeldin. "Berardinelli–Seip syndrome type 2 – An Egyptian child." Egyptian Journal of Medical Human Genetics 16, no. 2 (2015): 189–93. http://dx.doi.org/10.1016/j.ejmhg.2014.08.004.

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11

Alzu’bi, Ali A., Khaldon K. Al-Sarihin,, Suzan Eteiwi, et al. "Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association." Oman Medical Journal 35, no. 3 (2020): e135-e135. http://dx.doi.org/10.5001/omj.2020.53.

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12

Babu, Priya, Rakesh Sharma, Elizabeth Jayaseelan, and Divya Appachu. "Berardinelli-Seip syndrome in a 6-year-old boy." Indian Journal of Dermatology, Venereology and Leprology 74, no. 6 (2008): 644. http://dx.doi.org/10.4103/0378-6323.45112.

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13

Metwalley, KotbAbbass, and HekmaSaad Farghaly. "Berardinelli-Seip syndrome type 1 in an Egyptian child." Indian Journal of Human Genetics 20, no. 1 (2014): 75. http://dx.doi.org/10.4103/0971-6866.132762.

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14

Ferranti, Silvia, Caterina Lo Rizzo, Alessandra Renieri, Paolo Galluzzi, and Salvatore Grosso. "Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome." Neurological Sciences 41, no. 11 (2020): 3345–48. http://dx.doi.org/10.1007/s10072-020-04418-1.

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15

Joshi, Rajesh, and Shreya Sharma. "Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up." Indian Pediatrics 56, no. 10 (2019): 877–78. http://dx.doi.org/10.1007/s13312-019-1617-0.

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16

Wimalaratna, H., and ASD Nandasiri. "A case of Berardinelli-Seip syndrome presenting clinical with cirrhosis." Journal of the Royal College of Physicians of Edinburgh 43, no. 4 (2013): 309–11. http://dx.doi.org/10.4997/jrcpe.2013.406.

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17

van der Pol, Rachel J., Marc A. Benninga, Jocelyne Magré, et al. "Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?" European Journal of Pediatrics 179, no. 10 (2020): 1653–54. http://dx.doi.org/10.1007/s00431-020-03743-z.

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18

Solanki, Mishthu, Sandyadevi S. Patil, Devinder Kaur Baweja, Hina Noorani, and Shivaprakash PK. "Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 105, no. 1 (2008): e41-e47. http://dx.doi.org/10.1016/j.tripleo.2007.07.022.

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19

Santos, Maria Goretti do Nascimento, Maria de Fátima Paiva Baracho, Sancha Helena de Lima Vale, et al. "Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome." Journal of Trace Elements in Medicine and Biology 26, no. 1 (2012): 7–12. http://dx.doi.org/10.1016/j.jtemb.2011.11.002.

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20

Benthien, J. P., T. Trommer, R. Fuhrmann, and R. Venbrocks. "Skeletal manifestations of acquired generalized diabetic lipodystrophy: Seip-Berardinelli-Lawrence syndrome." Foot and Ankle Surgery 4, no. 3 (1998): 171–76. http://dx.doi.org/10.1046/j.1460-9584.1998.00108.x.

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21

Ghanem, Q. "Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome." Clinical Genetics 44, no. 5 (2008): 277–78. http://dx.doi.org/10.1111/j.1399-0004.1993.tb03899.x.

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22

Faria, Carlos A., Ruy S. Moraes, Dário C. Sobral-Filho, et al. "Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)." EP Europace 11, no. 6 (2009): 763–69. http://dx.doi.org/10.1093/europace/eup095.

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23

Purizaca-Rosillo, Nelson, Takayasu Mori, Yamali Benites-Cóndor, Fuki M. Hisama, George M. Martin, and Junko Oshima. "High incidence ofBSCL2intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome." American Journal of Medical Genetics Part A 173, no. 2 (2016): 471–78. http://dx.doi.org/10.1002/ajmg.a.38053.

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24

Rostami, Parastoo, Maryam Nakhaeimoghadam, Faezeh-Moghimpour Bijani, et al. "AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome." Annales d'Endocrinologie 74, no. 1 (2013): 59–61. http://dx.doi.org/10.1016/j.ando.2012.11.008.

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25

Indumathi, CK, Vageesh Ayyar, and S. Lewin. "Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant." Indian Journal of Endocrinology and Metabolism 15, no. 5 (2011): 62. http://dx.doi.org/10.4103/2230-8210.83054.

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26

Haque, Khalid N., and Mansour M. Al-Nozha. "Berardinelli Lipodystrophy: (Generalized Lipodystrophy) Syndrome: A Case Report and Review of the Literature." Annals of Saudi Medicine 12, no. 4 (1992): 400–402. http://dx.doi.org/10.5144/0256-4947.1992.400.

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27

Ngou, P., S. Ngo Um Sap, R. Takogue, M. Dehayem, and J. C. Mbanya. "P72 Berardinelli-Seip syndrome in 2 girls in Cameroon: late diagnosis, management difficulties." Diabetes Research and Clinical Practice 103 (February 2014): S54. http://dx.doi.org/10.1016/s0168-8227(14)70180-9.

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28

Bennett, Tim, and Mark Allford. "Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)." Pediatric Anesthesia 22, no. 3 (2012): 299–300. http://dx.doi.org/10.1111/j.1460-9592.2011.03740.x.

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29

Rama Rao, GandikotaRaghu, S. Satya, K. Prathima, D. Lavanya, K. Sandeep, and A. Amareswar. "Congenital generalized lipodystrophy in children: Berardinelli–Seip syndrome – two rare cases with renal manifestations." Indian Journal of Paediatric Dermatology 18, no. 3 (2017): 227. http://dx.doi.org/10.4103/2319-7250.193008.

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30

Capeau, J., J. Magré, O. Lascols, et al. "Diseases of adipose tissue: genetic and acquired lipodystrophies." Biochemical Society Transactions 33, no. 5 (2005): 1073–77. http://dx.doi.org/10.1042/bst0331073.

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Human lipodystrophies represent a group of diseases characterized by altered body fat amount and/or repartition and major metabolic alterations with insulin resistance leading to diabetic complications and increased cardiovascular and hepatic risk. Genetic forms of lipodystrophies are rare. Congenital generalized lipodystrophy or Berardinelli–Seip syndrome, autosomal recessive, is characterized by a complete early lipoatrophy and severe insulin resistance and results, in most cases, from mutations either in the seipin gene of unknown function or AGPAT2 encoding an enzyme involved in triacylgly

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31

Kozak, Igor, KhaledA Rubaie, Hussein Raef, and DonaldU Stone. "Retinopathy and uveitis in congenital generalized lipodystrophy with hypertriglyceridemia and uncontrolled diabetes (Berardinelli–Seip Syndrome)." Middle East African Journal of Ophthalmology 26, no. 4 (2019): 250. http://dx.doi.org/10.4103/meajo.meajo_94_19.

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32

de Wazières, B., D. Wendling, L. Tatu, G. Morin, D. A. Vuitton, and J. L. Dupond. "Diabète lipoatrophique, acanthosis nigricans, hypertrophie musculaire, atteinte osseuse. Une observation exceptionnelle du syndrome de Berardinelli." La Revue de Médecine Interne 12, no. 3 (1991): S220. http://dx.doi.org/10.1016/s0248-8663(05)83082-6.

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33

Jr, T. Gedde-Dahl, O. Trygstad, L. Van Maldergem, et al. "Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping." Acta Paediatrica 85, s413 (1996): 52–58. http://dx.doi.org/10.1111/j.1651-2227.1996.tb14266.x.

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34

Dantas de Medeiros Rocha, Érika, Lúcia Dantas Leite, Maria de Fátima Paiva Baracho, et al. "Effect of Diet Intervention and Oral Zinc Supplementation on Metabolic Control in Berardinelli-Seip Syndrome." Annals of Nutrition and Metabolism 57, no. 1 (2010): 9–17. http://dx.doi.org/10.1159/000313932.

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35

Fu, Mao, Rasa Kazlauskaite, Maria de Fátima Paiva Baracho, et al. "Mutations inGng3lgandAGPAT2in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects." Journal of Clinical Endocrinology & Metabolism 89, no. 6 (2004): 2916–22. http://dx.doi.org/10.1210/jc.2003-030485.

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36

Dyment, D. A., W. T. Gibson, L. Huang, H. Bassyouni, R. A. Hegele, and A. M. Innes. "Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome." European Journal of Medical Genetics 57, no. 9 (2014): 524–26. http://dx.doi.org/10.1016/j.ejmg.2014.06.006.

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37

Miranda, Debora M., Bernardo L. Wajchenberg, Maria R. Calsolari, et al. "Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome." Clinical Endocrinology 71, no. 4 (2009): 512–17. http://dx.doi.org/10.1111/j.1365-2265.2009.03532.x.

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38

Pelosini, Caterina, Silvia Martinelli, Brunella Bagattini, et al. "Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome." Acta Diabetologica 48, no. 3 (2011): 243–46. http://dx.doi.org/10.1007/s00592-011-0308-7.

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39

Oswiecimska, Joanna, Mateusz Dawidziuk, Tomasz Gambin, et al. "A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy." Journal of Clinical Research in Pediatric Endocrinology 11, no. 3 (2019): 319–26. http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0227.

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40

Maeda, Miwako, Tomoki Maeda, Ken Ebihara, and Kenji Ihara. "The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years." Clinical Pediatric Endocrinology 28, no. 4 (2019): 139–45. http://dx.doi.org/10.1297/cpe.28.139.

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41

Baracho, Maria F. P., Adriana B. Nunes, Mario H. Hirata, et al. "Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ Single-Nucleotide Polymorphisms with Lipid and Glycemic Profiles of Patients with Berardinelli-Seip Syndrome." Annals of Nutrition and Metabolism 65, no. 4 (2014): 272–79. http://dx.doi.org/10.1159/000366026.

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42

Chakraborty, Partha Pratim, Saumik Datta, Satinath Mukhopadhyay, and Subhankar Chowdhury. "Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome)." BMJ Case Reports, April 11, 2016, bcr2016214493. http://dx.doi.org/10.1136/bcr-2016-214493.

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43

Viégas, Ruy Felipe Melo, Rosiane Viana Zuza Diniz, Taciana Mara Rezende Fortes Viégas, Edgar Bezerra Lira Fº, and Dirceu Rodrigues de Almeida. "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)." Arquivos Brasileiros de Cardiologia 75, no. 3 (2000). http://dx.doi.org/10.1590/s0066-782x2000000900006.

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44

Upreti, Vimal, Pawan Dhull, Saroj Kumar Patnaik, and KVS Hari Kumar. "An unusual cause of delayed puberty: Berardinelli-Seip syndrome." Journal of Pediatric Endocrinology and Metabolism 25, no. 11-12 (2012). http://dx.doi.org/10.1515/jpem-2012-0240.

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45

Sánchez-Iglesias, Sofía, Antía Fernández-Pombo, and David Araújo-Vilar. "Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome." Neurological Sciences, October 21, 2020. http://dx.doi.org/10.1007/s10072-020-04780-0.

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46

Gungor, Adem, Naile Gokkaya, Yusuf Karadeniz, Arzu Bilen, and Habib Bilen. "A novel gene mutation in Berardinelli Seip Syndrome: Three case reports." Endocrine Abstracts, May 13, 2016. http://dx.doi.org/10.1530/endoabs.41.gp74.

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47

de Azevedo Souza Karbage, Lia Beatriz, Ana Paula Dias Rangel Montenegro, Luciana Felipe Férrer Aragão, et al. "25Hydroxy-vitamin D status in patients with berardinelli-seip syndrome (congenital generalized lipodystrophy)." Diabetology & Metabolic Syndrome 7, S1 (2015). http://dx.doi.org/10.1186/1758-5996-7-s1-a108.

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48

Schnoll, Caroline, Erika Bezerra Parente, Paula Vieira Freire, Ibrahim Ahmad H. El Bacha, Edison Roberto Parise, and Joao Eduardo Nunes Salles. "Evaluation of steatohepatitis, body composition and metabolic profile of three patients with Berardinelli-Seip syndrome." Diabetology & Metabolic Syndrome 7, S1 (2015). http://dx.doi.org/10.1186/1758-5996-7-s1-a102.

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49

Oswiecimska, Joanna, Mateusz Dawidziuk, Tomasz Gambin, et al. "Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy." Journal of Clinical Research in Pediatric Endocrinology, December 19, 2018. http://dx.doi.org/10.4274/jcrpe.0227.

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50

Ramos-Lopes, Joana, Joana Ribeiro, Mário Laço, Cristina Alves, Anabela Matos, and Cármen Costa. "A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement." Journal of Pediatric Genetics, July 8, 2020. http://dx.doi.org/10.1055/s-0040-1713768.

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AbstractA Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2), which is related to a spectrum of neurological phenotypes. In the current study, we have presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on exhibited atrophy and weakness in the thenar and dorsal interosseous muscles. Magnetic resonance imaging (MRI) revealed discrete atrophy of the co

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