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Published on: June 15, 2020
[Hereditary hemorrhagic telangiectasia: a report of two cases]
Yan Huang1, Chen-Tao Liu, Xiang-Rong Zheng
1Department of Pediatrics, Xiangya Hospital of Central South University, Changsha 410008, China. 504560384@qq.com.
Insights
Hereditary hemorrhagic telangiectasia (HHT) in children can present with atypical respiratory symptoms, leading to delayed diagnosis. Early identification through imaging and genetic testing is crucial for managing this rare vascular disorder.
Area of Science:
- Genetics
- Pediatrics
- Vascular Medicine
Background:
- Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder affecting blood vessels.
- Diagnosis in children can be challenging due to atypical presentations, particularly respiratory symptoms.
Observation:
- Two pediatric cases of HHT are presented, one with chronic cough/wheezing and cerebral arteriovenous malformations, the other with cyanosis and severe pulmonary vascular abnormalities.
- Both patients exhibited a history of epistaxis, a common HHT symptom.
- Genetic analysis revealed an ENG gene mutation in one patient.
Findings:
- Children with HHT may not exhibit typical respiratory signs, increasing the risk of misdiagnosis.
- Pulmonary computed tomography and right cardiac acoustic contrast are valuable diagnostic tools.
- Genetic testing aids in confirming HHT and improving early diagnosis rates.
Implications:
- Early and accurate diagnosis of HHT in children is essential for timely intervention.
- Recognizing non-classical HHT symptoms is critical for pediatricians.
- Integrating genetic screening can enhance diagnostic yield for HHT.
Abstract:
This article reports two children with hereditary hemorrhagic telangiectasia (HHT). Patient 1 was a boy aged 12 years and was admitted due to intermittent cough and wheezing for more than 10 years. This boy and his mother and grandmother had a history of epistaxis. The boy had a history of the rupture of cerebral arteriovenous malformations. Gene detection showed a heterozygous mutation, c.277C>T(p.Arg93*), in the ENG gene. Patient 2 was a girl aged 13 years and was admitted due to cyanosis of lips for more than 1 year. The girl had a history of recurrent epistaxis and the manifestations of severe decline in pulmonary diffuse function, pulmonary hypertension, dilation of blood vessels at the distal end of lungs, and small arteriovenous communications in both lungs. Children with HHT often lack typical respiratory symptoms, which may lead to missed diagnosis and misdiagnosis in the early stage. Pulmonary computed tomography or right cardiac acoustic contrast can help with the diagnosis of HHT, and gene detection can improve the early diagnostic rate of this disease.
