Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria.
Bronchiectasis
Fibrillin degeneration
Homocystinuria
Mounier-Kuhn syndrome
Tracheobronchomegaly
Journal
Respiratory medicine case reports
ISSN: 2213-0071
Titre abrégé: Respir Med Case Rep
Pays: England
ID NLM: 101604463
Informations de publication
Date de publication:
2023
2023
Historique:
received:
04
10
2022
revised:
22
12
2022
accepted:
03
01
2023
entrez:
19
1
2023
pubmed:
20
1
2023
medline:
20
1
2023
Statut:
epublish
Résumé
Homocystinuria (HCU) is a rare autosomal recessive inherited disorder usually diagnosed in childhood. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. The accumulation of homocysteine leads to abnormalities in the ocular, skeletal, cardiovascular, and central nervous systems. HCU shares several clinical features with Marfan syndrome; however, respiratory system involvement in HCU is uncommon and rarely reported. Bronchiectasis has been previously reported in a few cases of HCU, and it was attributed mainly to fibrillin deficiency. This case describes a young girl diagnosed with classical HCU since childhood who presented with a chronic productive cough and was initially misdiagnosed as bronchial Asthma. However, upon further evaluation, she was eventually diagnosed with tracheobronchomegaly (TBM), or Mounier-Kuhn Syndrome, and bronchiectasis based on the computed tomography (CT) scan of chest findings. To our knowledge, this is the first reported case of TBM and bronchiectasis in HCU. We believe that fibrillin degeneration may be the key to understanding this unusual association in HCU.
Identifiants
pubmed: 36655006
doi: 10.1016/j.rmcr.2023.101808
pii: S2213-0071(23)00003-5
pmc: PMC9841048
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101808Informations de copyright
© 2023 The Authors.
Déclaration de conflit d'intérêts
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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