Cargando…

Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report

BACKGROUND: A number of genetic syndromes associated with variants in the BSCL2/seipin gene have been identified. Variants that cause skipping of exon 7 are associated with progressive encephalopathy with/without lipodystrophy (PELD), which is characterized by the development of progressive myocloni...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pedicelli, Stefania, de Palma, Luca, Pelosini, Caterina, Cappa, Marco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585287/ https://www.ncbi.nlm.nih.gov/pubmed/33099310 http://dx.doi.org/10.1186/s13052-020-00916-2

Ejemplares similares

Metreleptin therapy in LMNA-linked lipodystrophies
por: Vatier, Camille, et al.
Publicado: (2015)

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
por: Alaei, Mohammad Reza, et al.
Publicado: (2016)

Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report
por: Zhang, Yi, et al.
Publicado: (2019)

Metreleptin Treatment in Three Patients with Generalized Lipodystrophy
por: Musso, Carla, et al.
Publicado: (2017)

New advances in the treatment of generalized lipodystrophy: role of metreleptin
por: Rodriguez, Alexander J, et al.
Publicado: (2015)

Suggestive Evidence for an Antidepressant Effect of Metreleptin Treatment in Patients with Lipodystrophy
por: Vieira, Diana Branco, et al.
Publicado: (2022)

Progressive myoclonic epilepsy with Fanconi syndrome
por: Seaby, Eleanor G, et al.
Publicado: (2016)

Risk factors for diabetic foot ulcers in metreleptin naïve patients with lipodystrophy
por: Saydam, O, et al.
Publicado: (2021)

SUN-607 Iron Parameters in Patients with Partial Lipodystrophy and Impact of Metreleptin Therapy
por: Boutros, Sabine, et al.
Publicado: (2020)

Efficacy and Safety of Metreleptin in Patients with Partial Lipodystrophy: Lessons from an Expanded Access Program
por: Ajluni, Nevin, et al.
Publicado: (2016)

Diagnosis of acquired generalized lipodystrophy in a single patient with T-cell lymphoma and no exposure to Metreleptin
por: Esfandiari, Nazanene H., et al.
Publicado: (2019)

OR17-02 Changes in Hepatokines and Apolipoproteins Are Associated with Metabolic Response to Metreleptin in Partial Lipodystrophy
por: Akinci, Baris, et al.
Publicado: (2020)

Metreleptin and Metformin Use in an Infant With Congenital Generalized Lipodystrophy Secondary to AGPAT2 Mutation
por: Schweisberger, Cintya, et al.
Publicado: (2021)

FRI056 Effect Of 48 Hour Of Metreleptin In Humans With Lipodystrophy During Controlled Feeding
por: Bukhari, Khulood M, et al.
Publicado: (2023)

SAT676 Severe Recurrent Pancreatitis In A Familial Partial Lipodystrophy Patient On Metreleptin
por: Sargin, Pinar, et al.
Publicado: (2023)

Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report
por: Sharma, Chandra Mohan, et al.
Publicado: (2016)

Genetics of Lafora progressive myoclonic epilepsy: current perspectives
por: Kecmanović, Miljana, et al.
Publicado: (2016)

Cerebral Evoked Potentials in Familial Progressive Myoclonic Epilepsy
por: Halliday, A. M.
Publicado: (1967)

Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy
por: Martin, Sarah, et al.
Publicado: (2019)

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report
por: Takeyari, Shinji, et al.
Publicado: (2019)

Metreleptin Supplementation for Improving Lipid and Glycemic Profiles in Acquired Diabetes Lipodystrophy: A Case Report
por: Nagayama, Ayako, et al.
Publicado: (2019)

Case Report: Metreleptin and SGLT2 Inhibitor Combination Therapy Is Effective for Acquired Incomplete Lipodystrophy
por: Nagayama, Ayako, et al.
Publicado: (2021)

Metreleptin Robustly Increases Resting-state Brain Connectivity in Treatment-naïve Female Patients With Lipodystrophy
por: Schlögl, Haiko, et al.
Publicado: (2023)

SAT089 Natural History Of Generalized Lipodystrophy Following Early Vs. Late Metreleptin Treatment
por: Brush, Maiah, et al.
Publicado: (2023)

Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy
por: Boongird, Apisit, et al.
Publicado: (2023)

Juvenile Myoclonic Epilepsy: Myoclonic Status Epilepticus without Coma - Report of Three Cases
por: Murthy, Jagarlapudi M. K.
Publicado: (2020)

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease)()
por: Schorlemmer, Kathrin, et al.
Publicado: (2013)

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy
por: Mosbech, Mai-Britt, et al.
Publicado: (2014)

A Quandary of Cuprum - Wilson’s Disease Disguising as Progressive Myoclonic Epilepsy
por: Sachan, Monika, et al.
Publicado: (2017)

Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
por: Radhakrishnan, Divya M., et al.
Publicado: (2021)

The complicated clinical course in a case of atypical lipodystrophy after development of neutralizing antibody to metreleptin: treatment with setmelanotide
por: Akinci, Baris, et al.
Publicado: (2020)

Myoclonic status epilepticus in six patients without epilepsy()
por: Baysal Kirac, Leyla, et al.
Publicado: (2012)

Treatment of myoclonic seizures in patients with juvenile myoclonic epilepsy
por: Auvin, Stéphane
Publicado: (2007)

Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review
por: Saadah, Mohammed, et al.
Publicado: (2014)

Progressive Myoclonic Epilepsy Due to Lafora Body Disease with a Novel Mutation
por: Israni, Anil V., et al.
Publicado: (2018)

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy
por: Herzog, Rebecca, et al.
Publicado: (2021)

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis
por: Bernardi, Sara, et al.
Publicado: (2023)

SAT-081 Advanced Lipoprotein Analysis Demonstrates Atherogenic Lipid Profile in Patients with Lipodystrophy That Improves after Metreleptin Treatment
por: Kinzer, Alexandra, et al.
Publicado: (2019)

OR33-02 The Treatment of Partial Lipodystrophy in the Setting of Neutralizing Antibody Against Metreleptin with Leptin Receptor Agonist REGN4461
por: Akinci, Baris, et al.
Publicado: (2020)

Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real‐life experience from a national reference network
por: Mosbah, Héléna, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_b44otamkmj7te886e2ivhk4use