Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.

Détails

ID Serval
serval:BIB_13BF32CBB782
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.
Périodique
BMJ case reports
Auteur(s)
Moulin V., Grandoni F., Castioni J., Lu H.
ISSN
1757-790X (Electronic)
ISSN-L
1757-790X
Statut éditorial
Publié
Date de publication
14/06/2018
Peer-reviewed
Oui
Volume
2018
Pages
pii: bcr-2018-225035
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Résumé
Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the <i>SLC19A2</i> 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 2.9×10 <sup>9</sup> /L, thrombocytes 6×10 <sup>9</sup> /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.
Mots-clé
Administration, Oral, Adult, Anemia, Megaloblastic/complications, Anemia, Megaloblastic/diagnosis, Anemia, Megaloblastic/drug therapy, Anemia, Megaloblastic/genetics, Diabetes Mellitus/diagnosis, Diabetes Mellitus/drug therapy, Diabetes Mellitus/genetics, Female, Hearing Loss, Sensorineural/complications, Hearing Loss, Sensorineural/diagnosis, Hearing Loss, Sensorineural/drug therapy, Hearing Loss, Sensorineural/genetics, Humans, Infusions, Parenteral, Mutation, Pancytopenia/drug therapy, Pancytopenia/etiology, Rare Diseases, Thiamine/administration & dosage, Thiamine/metabolism, Thiamine/therapeutic use, Thiamine Deficiency/complications, Thiamine Deficiency/congenital, Thiamine Deficiency/diagnosis, Thiamine Deficiency/drug therapy, Thiamine Deficiency/genetics, Treatment Outcome, Vitamin B Complex/therapeutic use, diabetes, genetics, malignant and benign haematology, psychiatry (drugs and medicines)
Pubmed
Création de la notice
23/07/2018 17:47
Dernière modification de la notice
21/05/2021 6:35
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