ABSTRACT
BACKGROUND: Tuberous sclerosis complex (TSC) and primary lymphedema (PLE) are both rare diseases, and it is even rarer for both to occur in the same patient. In this work, we have provided a detailed description of a patient's clinical presentation, imaging findings, and treatment. And a retrospective analysis was conducted on 14 published relevant case reports. CASE SUMMARY: A 16-year-old male came to our hospital for treatment due to right lower limb swelling. This swelling is already present from birth. The patient's memory had been progressively declining. Seizures had occurred 1 year prior at an unknown frequency. The patient was diagnosed with TSC combined with PLE through multimodal imaging examination: Computed tomography, magnetic resonance imaging, and lymphoscintigraphy. The patient underwent liposuction. The swelling of the patient's right lower limb significantly improved after surgery. Epilepsy did not occur.after taking antiepileptic drugs and sirolimus. CONCLUSION: TSC with PLE is a rare and systemic disease. Imaging can detect lesions of this disease, which are important for diagnosis and treatment.
ABSTRACT
AIM: To observe the imaging characteristics of multi-modal imaging in perifoveal exudative vascular anomalous complex(PEVAC).METHODS: A retrospective case analysis. There were 11 patients(11 eyes)diagnosed as PEVAC by multi-modal imaging in our hospital included in this study from February 2021 to February 2022. All patients underwent the examinations of best corrected visual acuity(BCVA), fundus photography, fluorescein fundus angiography(FFA), spectral-domain optical coherence tomography(SD-OCT)and optical coherence tomography angiography(OCTA).RESULTS: On fundus examination, six out of eleven eyes presented as a unilateral and isolated lesion with diameter ≥150μm, five out of eleven eyes presented as multiple lesions(ranging from 2 to 4)and the diameter of each lesion <150μm, seven eyes with retinal edema and/or hard exudation. FFA revealed an oval-like hyper-fluorescent lesion of parafoveal in the late phase with enhancement but no leakage. Late peripheral telangiectasia leakage is seen with oedema. OCTA examination revealed a parafoveal small mass hyper-reflex showed aneurysmal dilation in the superficial and deep capillary, and capillary rarefaction was observed around the lesion. B-scan showed strong blood flow signal inside. Anti-vascular endothelial growth factor(VEGF)therapy was performed in 4 patients with macular edema. However, there was no notable improvement after treatment.CONCLUSION: Multi-modal imaging can help confirm the diagnosis and differential diagnosis of PEVAC, there is a poorly response to anti-VEGF therapy.
