Propranolol was first used in 2008 to treat hemangioma; its efficacy and safety have since changed the classical treatment indications. Infantile hepatic hemangioma presents as a spectrum of clinical conditions varying from simple asymptomatic lesions to lethal complications. Tufted hemangioma and Kaposiform hemangioendothelioma are congenital vascular tumors that lead to Kasabach-Merritt syndrome. Hemangiomas, like pure arteriovenous malformations, can cause hyperdynamic heart failure, and diffuse nodular-type hemangiomas can present with hypothyroidism. Respiratory problems and hepatic failure can be associated with diffuse nodular-type liver hemangiomas. There is a spectrum of approaches to management, varying from "watchful waiting" to liver transplant. In the age of propranolol, there has been a prominent change in the infantile hepatic hemangioma treatment algorithm. Our suggestion is early treatment with 3 mg/kg/day propranolol plus 1.0 to1.5 mg/kg/day prednisolone in all patients. This protocol is the most effective strategy for type 3 infantile hepatic hemangioma. Approximately one-third of patients with abdominal compartment syndrome in the era before propranolol treatment required liver transplant; this new treatment obviates transplant for many of these patients.
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http://dx.doi.org/10.6002/ect.TOND16.L19 | DOI Listing |
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center, Ankara University Faculty of Medicine, Ankara, Türkiye.
Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.
View Article and Find Full Text PDFPediatr Int
December 2024
Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye.
Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.
Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.
Radiol Clin North Am
January 2025
Department of Radiology, UPMC Children's Hospital of Pittsburgh, 4401 Penn Avenue, 2nd Floor Radiology, Pittsburgh, PA 15224, USA; Department of Radiology, University of Pittsburgh School of Medicine, 200 Lothrop Street, First Floor PUH, Suite E-174, Pittsburgh, PA 15213, USA. Electronic address:
Ultrasound is an important modality to assess pediatric patients and uses continue to increase. In this review, several emerging applications of ultrasound in pediatric patients are detailed, focusing on diseases impacting infants, including necrotizing enterocolitis, malrotation with midgut volvulus, and liver lesion characterization.
View Article and Find Full Text PDFCureus
October 2024
Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital and Research Center, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
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