Síndrome de MELAS como causa de estado epiléptico en niños: Reporte del caso de dos hermanos en Perú

Alicia Tirado-Chavarría; Eda J. Donayr-Rodríguez; Daniel Guillén-Pinto

doi:10.20453/rnp.v85i4.4373

Síndrome de MELAS como causa de estado epiléptico en niños: Reporte del caso de dos hermanos en Perú

Translated title of the contribution: MELAS syndrome as a cause of status epilepticus in children: Report on two brothers’ case in Peru

Alicia Tirado-Chavarría
, Eda J. Donayr-Rodríguez
, Daniel Guillén-Pinto

Hospital Regional Docente de Trujillo
Hospital Nacional Cayetano Heredia

Research output: Contribution to journal › Article › peer-review

Abstract

MELAS Syndrome is a mitochondrial disease associated with epileptic seizures. The case of two siblings with genetically confirmed MELAS is presented, with a history of recurrent status epilepticus accompanied by neurological deficits, failure to thrive, hyperlacticaemia, and brain lesions resembling strokes. The neurological presentation with epileptic status is highlighted to be considered in the corresponding differential diagnosis in emergency rooms and pediatric hospitals.

Translated title of the contribution	MELAS syndrome as a cause of status epilepticus in children: Report on two brothers’ case in Peru
Original language	Spanish
Pages (from-to)	319-326
Number of pages	8
Journal	Revista de Neuro-Psiquiatria
Volume	85
Issue number	4
DOIs	https://doi.org/10.20453/rnp.v85i4.4373
State	Published - Oct 2022

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Access to Document

10.20453/rnp.v85i4.4373

Cite this

@article{c925a3a8ae9a4852927955f9749c2bef,

title = "S{\'i}ndrome de MELAS como causa de estado epil{\'e}ptico en ni{\~n}os: Reporte del caso de dos hermanos en Per{\'u}",

abstract = "MELAS Syndrome is a mitochondrial disease associated with epileptic seizures. The case of two siblings with genetically confirmed MELAS is presented, with a history of recurrent status epilepticus accompanied by neurological deficits, failure to thrive, hyperlacticaemia, and brain lesions resembling strokes. The neurological presentation with epileptic status is highlighted to be considered in the corresponding differential diagnosis in emergency rooms and pediatric hospitals.",

keywords = "MELAS syndrome, Peru, epileptic seizures, hyperlactatemia, status epilepticus",

author = "Alicia Tirado-Chavarr{\'i}a and Donayr-Rodr{\'i}guez, \{Eda J.\} and Daniel Guill{\'e}n-Pinto",

note = "Publisher Copyright: {\textcopyright} 2022 Authors.",

year = "2022",

month = oct,

doi = "10.20453/rnp.v85i4.4373",

language = "Espa{\~n}ol",

volume = "85",

pages = "319--326",

journal = "Revista de Neuro-Psiquiatria",

issn = "0034-8597",

number = "4",

}

TY - JOUR

T1 - Síndrome de MELAS como causa de estado epiléptico en niños

T2 - Reporte del caso de dos hermanos en Perú

AU - Tirado-Chavarría, Alicia

AU - Donayr-Rodríguez, Eda J.

AU - Guillén-Pinto, Daniel

PY - 2022/10

Y1 - 2022/10

N2 - MELAS Syndrome is a mitochondrial disease associated with epileptic seizures. The case of two siblings with genetically confirmed MELAS is presented, with a history of recurrent status epilepticus accompanied by neurological deficits, failure to thrive, hyperlacticaemia, and brain lesions resembling strokes. The neurological presentation with epileptic status is highlighted to be considered in the corresponding differential diagnosis in emergency rooms and pediatric hospitals.

AB - MELAS Syndrome is a mitochondrial disease associated with epileptic seizures. The case of two siblings with genetically confirmed MELAS is presented, with a history of recurrent status epilepticus accompanied by neurological deficits, failure to thrive, hyperlacticaemia, and brain lesions resembling strokes. The neurological presentation with epileptic status is highlighted to be considered in the corresponding differential diagnosis in emergency rooms and pediatric hospitals.

KW - MELAS syndrome

KW - Peru

KW - epileptic seizures

KW - hyperlactatemia

KW - status epilepticus

UR - https://www.scopus.com/pages/publications/85176897984

U2 - 10.20453/rnp.v85i4.4373

DO - 10.20453/rnp.v85i4.4373

M3 - Artículo

AN - SCOPUS:85176897984

SN - 0034-8597

VL - 85

SP - 319

EP - 326

JO - Revista de Neuro-Psiquiatria

JF - Revista de Neuro-Psiquiatria

IS - 4

ER -

Síndrome de MELAS como causa de estado epiléptico en niños: Reporte del caso de dos hermanos en Perú

Abstract

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this