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Progressing subglottic and tracheobronchial stenosis in a patient with CHARGE syndrome diagnosed in adulthood.

Komatsuzaki KM, Shimomura S, Tomishima Y, Honda T, Fukasawa K, Oyama T, Miyashita Y - Respir Med Case Rep (2014)

Bottom Line: She had many medical histories that had gone undiagnosed and had been clinically ill with only heart defects.She did not have coloboma but had microphthalmos, atresia choanae, retarded growth development, and deafness; thus, we diagnosed CHARGE syndrome that refers to multiple congenital anomalies, including airway abnormalities, which can lead to secondary complications such as traumatic stenosis after intubation.Physicians should have knowledge of this rare disease and should pay special attention to potential airway problems.

View Article: PubMed Central - PubMed

Affiliation: Department of Pulmonary Medicine, Otolaryngology and Pathology, Yamanashi Prefectural Central Hospital, Yamanashi, Japan.

ABSTRACT
A 33-year-old woman was admitted for a pseudocroup-like cough and wheezing after general anesthesia. Several months ago, she had undergone cardiac re-operation and turbinectomy, both of which had involved difficult intubations. Bronchoscopy indicated a pin-hall-like subglottic stenosis; therefore, emergency tracheotomy was performed. Six years later, a computed tomography scan demonstrated progressive stenosis of the entire circumference of the trachea and main bronchi. She died at 40 years. Her autopsy revealed marked tracheobronchial stenosis. She had many medical histories that had gone undiagnosed and had been clinically ill with only heart defects. She did not have coloboma but had microphthalmos, atresia choanae, retarded growth development, and deafness; thus, we diagnosed CHARGE syndrome that refers to multiple congenital anomalies, including airway abnormalities, which can lead to secondary complications such as traumatic stenosis after intubation. Physicians should have knowledge of this rare disease and should pay special attention to potential airway problems.

No MeSH data available.


Related in: MedlinePlus

Bronchoscopy revealed pin-hall-like stenosis with fibrous tissue in the subglottic area. Vocal cord (arrow head).
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fig1: Bronchoscopy revealed pin-hall-like stenosis with fibrous tissue in the subglottic area. Vocal cord (arrow head).

Mentions: Physical examination revealed short height of 135.0 cm and expiratory wheezing were present. General corticosteroids were administered, with temporary improvement of the wheezing. On the fifth admission day, she lost consciousness because of CO2 narcosis. We attempted tracheal intubation using bronchofiberscopy, but the post-glottal trachea revealed a pin-hall-like stenosis (Fig. 1). Emergency tracheotomy was performed. A tracheal mucosa biopsy showed only non-specific fibrosis. She repeated respiratory infections. Six years later, chest computed tomography (CT) revealed progressive stenosis of the entire circumference of the trachea (Fig. 2) and main bronchi. We reviewed patient's history. She had idiopathic bilateral hearing loss and poor eyesight, the etiologies of which were unknown. She did not have coloboma but was diagnosed with microphthalmos. She had a characteristic square face with a short forehead and small-lobed ears and presented with growth delay. These features met the Blake's criteria [4]; she was clinically diagnosed with CHARGE syndrome. Mutations in the CHD7 (chromodomain-helicase-DNA-binding protein 7) gene cause CHARGE syndrome in two-third patients [5]. In our patient, CHD7 mutations had not been detected. She died suddenly at 40 years. She was the oldest patient with CHARGE syndrome in Japan. The autopsy revealed marked tracheobronchial stenosis with squamous metaplasia, non-specific granulomatous formation, and bronchial glands' hyperplasia (Fig. 3). The areas below the segmental bronchus had no remarkable changes. The patient had required repeated sputa suctioning through a tracheostoma. We hypothesized that repeated infections and the traumatic procedures had caused marked stenosis of the bronchi.


Progressing subglottic and tracheobronchial stenosis in a patient with CHARGE syndrome diagnosed in adulthood.

Komatsuzaki KM, Shimomura S, Tomishima Y, Honda T, Fukasawa K, Oyama T, Miyashita Y - Respir Med Case Rep (2014)

Bronchoscopy revealed pin-hall-like stenosis with fibrous tissue in the subglottic area. Vocal cord (arrow head).
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4061422&req=5

fig1: Bronchoscopy revealed pin-hall-like stenosis with fibrous tissue in the subglottic area. Vocal cord (arrow head).
Mentions: Physical examination revealed short height of 135.0 cm and expiratory wheezing were present. General corticosteroids were administered, with temporary improvement of the wheezing. On the fifth admission day, she lost consciousness because of CO2 narcosis. We attempted tracheal intubation using bronchofiberscopy, but the post-glottal trachea revealed a pin-hall-like stenosis (Fig. 1). Emergency tracheotomy was performed. A tracheal mucosa biopsy showed only non-specific fibrosis. She repeated respiratory infections. Six years later, chest computed tomography (CT) revealed progressive stenosis of the entire circumference of the trachea (Fig. 2) and main bronchi. We reviewed patient's history. She had idiopathic bilateral hearing loss and poor eyesight, the etiologies of which were unknown. She did not have coloboma but was diagnosed with microphthalmos. She had a characteristic square face with a short forehead and small-lobed ears and presented with growth delay. These features met the Blake's criteria [4]; she was clinically diagnosed with CHARGE syndrome. Mutations in the CHD7 (chromodomain-helicase-DNA-binding protein 7) gene cause CHARGE syndrome in two-third patients [5]. In our patient, CHD7 mutations had not been detected. She died suddenly at 40 years. She was the oldest patient with CHARGE syndrome in Japan. The autopsy revealed marked tracheobronchial stenosis with squamous metaplasia, non-specific granulomatous formation, and bronchial glands' hyperplasia (Fig. 3). The areas below the segmental bronchus had no remarkable changes. The patient had required repeated sputa suctioning through a tracheostoma. We hypothesized that repeated infections and the traumatic procedures had caused marked stenosis of the bronchi.

Bottom Line: She had many medical histories that had gone undiagnosed and had been clinically ill with only heart defects.She did not have coloboma but had microphthalmos, atresia choanae, retarded growth development, and deafness; thus, we diagnosed CHARGE syndrome that refers to multiple congenital anomalies, including airway abnormalities, which can lead to secondary complications such as traumatic stenosis after intubation.Physicians should have knowledge of this rare disease and should pay special attention to potential airway problems.

View Article: PubMed Central - PubMed

Affiliation: Department of Pulmonary Medicine, Otolaryngology and Pathology, Yamanashi Prefectural Central Hospital, Yamanashi, Japan.

ABSTRACT
A 33-year-old woman was admitted for a pseudocroup-like cough and wheezing after general anesthesia. Several months ago, she had undergone cardiac re-operation and turbinectomy, both of which had involved difficult intubations. Bronchoscopy indicated a pin-hall-like subglottic stenosis; therefore, emergency tracheotomy was performed. Six years later, a computed tomography scan demonstrated progressive stenosis of the entire circumference of the trachea and main bronchi. She died at 40 years. Her autopsy revealed marked tracheobronchial stenosis. She had many medical histories that had gone undiagnosed and had been clinically ill with only heart defects. She did not have coloboma but had microphthalmos, atresia choanae, retarded growth development, and deafness; thus, we diagnosed CHARGE syndrome that refers to multiple congenital anomalies, including airway abnormalities, which can lead to secondary complications such as traumatic stenosis after intubation. Physicians should have knowledge of this rare disease and should pay special attention to potential airway problems.

No MeSH data available.


Related in: MedlinePlus