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

Details

Serval ID
serval:BIB_13BF32CBB782
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.
Journal
BMJ case reports
Author(s)
Moulin V., Grandoni F., Castioni J., Lu H.
ISSN
1757-790X (Electronic)
ISSN-L
1757-790X
Publication state
Published
Issued date
14/06/2018
Peer-reviewed
Oui
Volume
2018
Pages
pii: bcr-2018-225035
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Abstract
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.
Keywords
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
Create date
23/07/2018 17:47
Last modification date
29/10/2019 16:55
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