Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment.
J Pediatr
; 171: 220-6, 2016 Apr.
Article
en En
| MEDLINE
| ID: mdl-26811264
ABSTRACT
OBJECTIVE:
To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. STUDYDESIGN:
We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers.RESULTS:
Average age of the first event was 8.15 ± 11.9 months (range 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r -0.17, 0.22, and 0.25 respectively, P < .05). There was no correlation with age of first event and red blood cell glucose uptake or mutation type.CONCLUSIONS:
Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events that herald the clinical onset of Glut1 DS in early infancy to facilitate prompt diagnosis, immediate treatment, and improved long-term outcome.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Errores Innatos del Metabolismo de los Carbohidratos
/
Transportador de Glucosa de Tipo 1
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Límite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
J Pediatr
Año:
2016
Tipo del documento:
Article