Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.

We report the case of an otherwise healthy 10-year-old girl referred to our institution for gradually decreasing vision and nyctalopia. Based on clinical examination, she was diagnosed with inherited retinal dystrophy, presumably due to enhanced S-cone syndrome (ESCS). Subsequent genetic testing confirmed a rare combination of NR2E3 heterozygous mutations: c.119-2A>C and c.932G>A p.(Arg311Gln).

Pulmonary artery coil embolisation prevented tumour progression in a patient with advanced squamous cell lung carcinoma.

Background: Squamous cell lung carcinoma (SqCLC) is a type of non-small-cell lung cancer, accounting for 25-30% of all lung cancer cases with a median advanced stage survival of 8-11 months. Here we present a rare case of long-term survival with metastatic SqCLC following coil embolisation of the right pulmonary artery.Case presentation: The 49-year-old patient was diagnosed with stage IV (cT4N3M1) SqCLC in 2007 due to a biopsy-proven central malignant tumour in the right lung and bilateral mediastinal lymphadenopathy. A magnetic resonance imaging scan also revealed a metastatic lesion in the liver. Soon after the diagnosis, the patient experienced pulmonary haemorrhage, which was managed by obturating the intermediate bronchus and performing coil embolisation of the right pulmonary artery. The patient also received chemotherapy in 2007 and 2009 without radiological changes. At three different time points in years 2010-2019, biopsies of the primary tumour were taken. All showed dense connective tissue with no indication of cancer growth. In 2020, a positron emission tomography scan showed no pathological metabolic activity in the lungs and liver. Currently, the patient remains in a stable clinical condition with a good performance status.Conclusion: The long-term clinical benefit indicates a direct effect of coil embolisation on tumour progression. We suggest that coil embolisation of tumour-feeding arteries could be considered as a potential treatment method for patients with SqCLC.

Successful treatment of diffuse pulmonary lymphangiomatosis with sirolimus.

Diffuse pulmonary lymphangiomatosis (DPL) is a rare disease characterized by uncontrolled proliferation of anastomosing lymphatic channels in the lungs, pleura and mediastinum. Several palliative treatment options have been suggested for this condition, such as surgical interventions, radiotherapy and systemic medications. However, the existing treatment modalities yield inconsistent results, and their use is often limited by toxic side effects. The aim of this case report is to demonstrate the diagnostic challenges of a rare disease and improvement in the condition of a DPL patient treated with sirolimus. A 27-year-old man presented to the pulmonologist with exertional dyspnea, chronic cough and intermittent hemoptysis. Upon medical investigation, a chest computed tomography (CT) scan revealed soft tissue masses infiltrating the mediastinum and bilateral interlobular septal thickening. A surgical biopsy was performed, and pathological tissue analysis showed findings consistent with the diagnosis of DPL. Treatment with sirolimus was initiated, maintaining trough concentrations between 10 and 15 ng/ml. At 21 months of treatment, the patient reported reduced symptoms of cough and dyspnea. A CT scan showed decreased interstitial thickening and reduced infiltrations in the mediastinum. Moreover, pulmonary function tests revealed a significant increase in FEV1 and FVC. The authors believe this is the first article reporting pulmonary function improvement in an adult DPL patient treated with sirolimus. Therefore, sirolimus therapy should be considered for DPL patients as it may be effective in improving their condition and preventing disease progression.