Proximal interruption of the pulmonary artery: A review of radiological findings.

Objectives: Proximal interruption of the pulmonary artery (PIPA) has various clinical manifestations. This review focused on and summarized the clinical and radiological features of PIPA, based on relevant literature studies. Methods: The study included a total of 25 PIPA cases in the Guangzhou Women and Children's Medical Center between January 2015 and December 2021. Conventional chest photographs and chest computed tomography angiography (CCTA) of patients with PIPA were analyzed and summarized. Results: The radiological results showed that 17 cases were right-sided and 8 cases were left-sided PIPA. Additionally, the percentage of pulmonary hypoplasia on the affected side was 44%, 36% for pulmonary hypertension, 28% for the mosaic sign, 20% for subpleural cystic lucency shadow, 20% for subpleural serrated shadow, 20% for collateral vessel thickening, 16% for subpleural band-like parenchyma, 12% for pneumonia, and 56% for patent ductus arteriosus. Conclusion: The clinical manifestations of PIPA are non-specific. Awareness of this anomaly, based on radiological manifestations, particularly those observed on CCTA images, is important for ruling out alternative diagnoses and implementing appropriate management.

Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.

OBJECTIVE: This study aimed to summarize the magnetic resonance imaging (MRI) and computed tomography (CT) features of the central nervous system (CNS) in children with Hoyeraal-Hreidarsson syndrome. METHODS: The imaging and clinical data of four children diagnosed with Hoyeraal-Hreidarsson syndrome by clinical and laboratory tests in the Guangzhou Women and Children's Medical Center were gathered and analyzed retrospectively. The clinical manifestations and CNS imaging features of Hoyeraal-Hreidarsson syndrome were summarized based on our results and a literature review. RESULTS: Our results showed that delayed development, skin pigmentation, nail/toenail dystrophy, thrombocytopenia, and anemia are the most observed clinical presentations of Hoyeraal-Hreidarsson syndrome. Important findings on CNS imaging showed that all patients had cerebellar hypoplasia, delayed myelination, hydrocephalus, brain atrophy, and calcification. The gene mutations in all cases were consistent with those of dyskeratosis congenita, including TINF2 mutations in three cases and DKC1 mutations in one case. CONCLUSION: Hoyeraal-Hreidarsson syndrome is a severe variant of dyskeratosis congenita. Both DKC1 and TINF2 mutations can lead to the phenotypes of Hoyeraal-Hreidarsson syndrome. In our study, CNS imaging revealed that cerebellar hypoplasia has an important diagnostic value for Hoyeraal-Hreidarsson syndrome while delayed myelination, calcification of the parenchyma, brain atrophy, and hydrocephalus are also important findings on CNS imaging. Combining imaging features with clinical and laboratory indicators can assist the diagnosis of Hoyeraal-Hreidarsson syndrome.