We report a 5-year-old girl, who presented with proptosis due to an orbital capillary hemangioma. After 8 months of treatment with oral propranolol at a dose of 2 mg/kg/day, the mass reduced significantly in size and regrowth was not observed within 20 months of follow-up.
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http://dx.doi.org/10.3109/01676830.2011.604899 | DOI Listing |
J Pediatr Endocrinol Metab
January 2025
Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye.
Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).
View Article and Find Full Text PDFSurg Neurol Int
December 2024
Department of Medicine, Fatima Memorial College of Medicine and Dentistry (FMHCMD), Lahore, Pakistan.
Background: The presence of a human tail is a rare condition resulting from an embryonic remnant that fits the definition of a caudal appendage. It may be a vestigial (true) or a pseudotail. Both may be considered markers of underlying intraspinal abnormalities.
View Article and Find Full Text PDFBiol Res
January 2025
Department of Pediatrics, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Background: Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions due to irregular gonadal development or androgen synthesis or function issues. Genes significantly influence DSD; however, the underlying mechanisms remain unclear. This study identified a Chinese family with 46, XY female DSD due to the CUL4B gene.
View Article and Find Full Text PDFAm J Trop Med Hyg
January 2025
Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, India.
Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare neuroinflammatory disorder that is typically associated with paraneoplastic and postinfectious processes. Opsoclonus myoclonus ataxia syndrome has not been previously reported in association with tuberculous meningitis (TBM). This report presents a unique case in which TBM manifested as OMAS, highlighting the complex interplay between tuberculosis and autoimmune neurological conditions.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, University Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, 71-215 Szczecin, Poland.
Background/objectives: Obesity is a chronic disease characterized by pathological accumulation of adipose tissue. The exponentially increasing number of children with severe obesity draws attention to the tragic consequences of the lack of, or inadequate treatment of, obesity in this age group. This article aims to present ways of preventing obesity and ways of treating its complications in order to reduce the risk of the life-threatening problems caused by it.
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