[MELAS syndrome in a five year-old child: clinical, biological and genetic characteristics]. / Syndrome MELAS chez un enfant de 5 ans: caractéristiques cliniques, biologiques et génétiques.
Arch Pediatr
; 5(9): 1000-3, 1998 Sep.
Article
em Fr
| MEDLINE
| ID: mdl-9789633
ABSTRACT
BACKGROUND:
MELAS syndrome is a rare mitochondrial cytopathy; its diagnosis can be difficult. CASE REPORT A 6-month-old boy presented with febrile seizures, possibly due to viral meningitis. At 7 months, he developed myoclonia and "brain attacks" and, subsequently, myoclonical attacks, regression of psychomotor and mental acquisitions, and progressive visual loss. The ratio of lactatorachia/lactacidemia was increased. The molecular genetic analysis showed an heteroplasmic point mutation with A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(leu) (UUR) gene. He was the second child of a mother having frequent headaches. His great aunt, a sister of his maternal grandmother, was mentally retarded and had frequent epileptic seizures and hemiparesy since her childhood.CONCLUSION:
Any unusual neurological symptom, particularly when combined with "illegitimate" symptoms, should lead to search for a mitochondrial cytopathy.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação Puntual
/
Síndrome MELAS
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
França