Resumen
Definición
Anamnesis y examen
Otros factores de diagnóstico
- age 0 to 12 years
- steatorrhea/diarrhea
- low weight
- muscle weakness
- muscle contractions
- loss of deep tendon reflexes
- ataxia
- dysmetria
- dysarthria
- night blindness
- poor eyesight
- ophthalmoplegia
- fatigue
- pale skin
- optic disc swelling
- hepatomegaly
Factores de riesgo
- genetic
- consanguineous parents
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- fasting lipid panel
- vitamin A, D, E, K blood levels
- blood smear
- apo B and MTTP genetic testing
Pruebas diagnósticas que deben considerarse
- stool smear
- PTT
- serum iron levels
- liver transaminases
- intestinal biopsy
- direct or indirect ophthalmoscope
- electromyelogram
- evoked potential electrodiagnostic test
- nerve conduction study
Algoritmo de tratamiento
all patients
Colaboradores
Autores
Nicholas Davidson, MD, DSc
Professor of Medicine
Washington University School of Medicine
Saint Louis
MO
Divulgaciones
ND declares that he has no competing interests.
Agradecimientos
Professor Nicholas Davidson would like to gratefully acknowledge Professor David Leaf for his contribution to this topic.
Divulgaciones
DL declares that he has no competing interests.
Revisores por pares
David Muller, PhD
Emeritus Professor of Biochemistry
UCL Institute of Child Health
London
UK
Divulgaciones
DM is a co-author of an article referenced in this topic. He has previously received research funding from F Hoffmann-La Roche and Co Ltd for research studies on vitamin E.
Katherine Wu, MD
Associate Professor of Medicine
Division of Cardiology
Johns Hopkins Medical Institutions
Baltimore
MD
Divulgaciones
KW declares that she has no competing interests.
Diferenciales
- Celiac disease
- Crohn disease
- Ulcerative colitis
Más DiferencialesGuías de práctica clínica
- Vitamin E: fact sheet for health professionals
- Faltering growth: recognition and management of faltering growth in children
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