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Clarifying the Cardiovascular Morphology and Associated Abnormalities in Patients with Double Inlet Right Ventricle Using Multidetector CT Angiography.
Pediatr Cardiol
January 2025
Department of Cardiovascular Radiology & Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, 110029, India.
We sought to evaluate the intracardiac morphology and associated cardiovascular anomalies in patients with double inlet right ventricle (DIRV) on multidetector CT angiography. A retrospective search of our departmental database was conducted from January 2014 to January 2023 to identify patients with a diagnosis of DIRV on CT angiography. The intracardiac anatomy and associated cardiovascular abnormalities were systematically evaluated.
View Article and Find Full Text PDFC19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).
Eur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFSevere childhood SLE with refractory autoimmune hemolytic anemia-a therapeutic challenge.
BMJ Case Rep
January 2025
Dermatology, Venereology and Leprosy, AIIMS Rishikesh, Rishikesh, Uttarakhand, India
Paediatric Systemic lupus erythematosus (SLE) constitutes 10 to 20% of cases of SLE with more severe disease and higher mortality. We report a case of an adolescent girl with SLE with multisystem involvement who was started on hydroxychloroquine and oral prednisolone. However, due to persistent worsening of skin lesions and falling cell counts, pulsed dexamethasone was initiated which showed improvement in the skin lesions, cell counts, proteinuria and pleural effusion but there was a persistent fall in the haemoglobin.
View Article and Find Full Text PDFPrecocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
View Article and Find Full Text PDFCongestive myelopathy secondary to epidural venous engorgement and venous congestion in a patient with Budd-Chiari syndrome and its management through inferior vena cava stenting.
BMJ Case Rep
January 2025
Radiodiagnosis and Interventional Radiology, AIIMS Bhubaneswar, Bhubaneswar, Odisha, India.
Budd-Chiari syndrome with obstruction in the inferior vena cava causes increased venous pressure in the azygous-hemiazygous system and paravertebral venous plexus, which is transmitted to the epidural venous plexus, devoid of the valves. It causes epidural venous plexus engorgement and venous congestion and may present rarely with low back pain or radiating pain. However, patients developing lower limb weakness as a complication of Budd-Chiari syndrome is an infrequent and severe presentation.
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