Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185â¯Tâ¯>â¯C variant in the MT-ATP6 gene: Expanding the clinical spectrum.
Brain Dev
; 42(1): 69-72, 2020 Jan.
Article
en En
| MEDLINE
| ID: mdl-31500933
ABSTRACT
BACKGROUND:
The mitochondrial DNA MT-ATP6 gene encodes the ATP6 subunit of the mitochondrial ATP synthase. The m.9185â¯Tâ¯>â¯C variant in MT-ATP6 has been reported to cause various neurological disorders including late-onset Leigh syndrome (LS). To our knowledge, there has been no reported case of infantile-onset LS associated with the m.9185â¯Tâ¯>â¯C variant. Herein, we report a patient with early-onset LS complicated with infantile spasms who exhibited profound developmental delay. CASE REPORT A 3-month-old Japanese girl presented with focal seizures. Brain magnetic resonance imaging (MRI) revealed bilateral lesions in the basal ganglia and cerebral peduncle. Laboratory evaluation demonstrated marked elevations of lactate and pyruvate in both venous blood and cerebrospinal fluid. At 6â¯months, she developed infantile spasms, which were ceased by adrenocorticotropic hormone therapy. At 2â¯years of age, she was bedridden due to hypotonic quadriplegia and was unable to make eye contact. Whole-exome sequencing identified apparently de novo homoplasmic m.9185â¯Tâ¯>â¯C variant in her blood.CONCLUSION:
This is the first case report describing early infantile-onset LS associated with the m.9185â¯Tâ¯>â¯C variant, and thereby broadens the phenotypic spectrum of m.9185â¯Tâ¯>â¯C-related disorders.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Espasmos Infantiles
/
Enfermedad de Leigh
/
ATPasas de Translocación de Protón Mitocondriales
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Brain Dev
Año:
2020
Tipo del documento:
Article
País de afiliación:
Japón