Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.
BMJ Case Rep
; 20182018 Jun 14.
Article
en En
| MEDLINE
| ID: mdl-29903777
Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the SLC19A2 gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 25-year-old woman known for TRMA, who presented with pancytopenia (haemoglobin 7.6 g/dL, leucocytes 2.9×109/L, thrombocytes 6×109/L) revealed by dyspnoea. Investigations excluded coagulopathy, a recent viral infection, vitamin and iron deficiencies, and a malignant process. We later found out that thiamine treatment had been discontinued 5 weeks before, due to prescription error. Parenteral thiamine administration resulted in the recovery of haematopoiesis within 3 weeks. Pancytopenia is uncommon in patients with TRMA. Pre-existing medullary impairment caused by the patient's daily antipsychotic medications or the natural course of the syndrome may explain the severity of the laboratory findings in our patient.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pancitopenia
/
Deficiencia de Tiamina
/
Diabetes Mellitus
/
Pérdida Auditiva Sensorineural
/
Anemia Megaloblástica
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
BMJ Case Rep
Año:
2018
Tipo del documento:
Article
País de afiliación:
Suiza
Pais de publicación:
Reino Unido