Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between the pulmonary arteries and pulmonary veins. Despite their relatively uncommon incidence, PAVMs should be considered in the differential diagnosis of children presenting with cyanosis due to the life-threatening complications posed by paradoxical emboli. The primary management approach involves eliminating the abnormal connections, either through surgical or endovascular methods.
View Article and Find Full Text PDFGoldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare congenital disorder characterized by craniofacial anomalies, ear malformations, and ocular abnormalities. It is also associated with multiple system involvement, including the central nervous system, renal, cardiovascular, and gastrointestinal systems. This case report presents a detailed description of a preterm female neonate diagnosed with Goldenhar syndrome.
View Article and Find Full Text PDFStiff person syndrome (SPS) is an extremely rare disease that presents with episodic painful muscle spasms and progressive muscle rigidity. Recent evidence suggests that SPS can rarely manifest with life-threatening respiratory complications. However, the pathophysiology behind respiratory failure in SPS is still not clearly understood.
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