Benign vascular tumors, or hemangiomas, are common in young children. The most frequent way to identify them on the skin is as bright red surface lesions, although they can also be detected deeper as subcutaneous lesions. Visceral involvement, particularly of the liver, is commonly observed in patients with multiple cutaneous hemangiomas. Since most hemangiomas are self-limited, they can be clinically monitored. Despite this, hepatic hemangiomas can result in significant consequences, such as severe hepatomegaly, which can induce abdominal compartment syndrome, inadequate ventilation, and renal vein compression, as well as significant arteriovenous shunts that compromise the functioning of the heart. Depending on the patient's findings, management may range from routine follow-up to liver transplantation. Here, we present a case of hypothyroidism, hepatomegaly, and cardiac failure in a two-month-old female newborn with infantile hepatic hemangioma. The patient's symptoms were managed with the use of levothyroxine, propranolol, and transcatheter arterial embolization (TAE).
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http://dx.doi.org/10.7759/cureus.66507 | 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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