Late diagnosis of a rare disease

Rare diseases may be misdiagnosed if laboratory investigations show a common diagnosis instead. This is the story of 24-year-old male patient misdiagnosed as a case of hereditary spherocytosis at the age of 10 years. He received regular blood transfusions. Thorough investigations revealed microcytic...

Full description

Saved in:
Bibliographic Details
Published in:BMJ case reports 2009, Vol.2009 (apr07 2), p.bcr0720080386-bcr0720080386
Main Author: Hossainy, Noha Mohamed El
Format: Article
Language:English
Subjects:
Biopsy
Blood
Bone marrow
Congenital diseases
Diabetes
Diabetic retinopathy
Disease
Hepatitis
Insulin
Iron
Male
Middle East
Rare Disease
Rare diseases
Tuberculosis
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Rare diseases may be misdiagnosed if laboratory investigations show a common diagnosis instead. This is the story of 24-year-old male patient misdiagnosed as a case of hereditary spherocytosis at the age of 10 years. He received regular blood transfusions. Thorough investigations revealed microcytic anaemia, with results for all hereditary and acquired causes of haemolytic anemia negative, iron overload in the liver, stunted growth, insulin-dependent diabetes mellitis, hypercellular bone marrow and marked depletion of its iron stores. The transferrin level was very low when repeatedly measured, making congenital atransferrinaemia the most acceptable diagnosis for this case with haemochromatosis. Congenital atransferrinaemia is a very rare disease, with few cases recorded worldwide. Most cases died at a young age if not treated properly. Our patient is still alive although only recently diagnosed. He is now undergoing treatment with plasma transfusion, iron-chelating therapy and antituberculous treatment for pulmonary and osteoarthritic tuberculosis.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr.07.2008.0386