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Rev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Pediatrics, Taihe County People's Hospital, Fuyang, Anhui, China.
Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of brain disorders. Variants in the Rho-related BTB domain-containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early-onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. More than half of the variants are located at Arg483 and Arg511 within the BTB domain; however, the underlying mechanism of action of these hotspot variants remains unexplored.
View Article and Find Full Text PDFMultimed Man Cardiothorac Surg
January 2025
Maria Fareri Children's Hospital, Westchester Medical Center, Valhalla, NY, USA.
An 8-week-old, 3.4-kg infant, who was diagnosed prenatally with tetralogy of Fallot and absent pulmonary valve syndrome, was intubated after birth and failed extubation due to severe tracheobronchomalacia. He was deemed inoperable prior to being transferred to our institution.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Endocrinology and Metabolic Diseases, Shandong First University Affiliated Central Hospital, Jinan, China.
Background: KBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.
Methods And Results: We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis.
BJR Case Rep
January 2025
Unità Operativa di Radiologia, Cà Granda Ospedale Maggiore Policlinico, Fondazione I.R.C.C.S., Milan 20122, Italy.
A 19-year-old woman presented to the emergency department with arrhythmia and signs of cardiogenic shock. After a 12-lead electrocardiogram ruled out acute myocardial infarction, and cardiac magnetic resonance showed no sign of cardiomyopathy, cardiac computed tomography angiography (CCTA) was performed, displaying ostial atresia of the right coronary artery. She was thus referred to a specialist centre for congenital cardiovascular disease, where an electrophysiological study observed an arrhythmogenic focus on the posteromedial papillary muscle, which was ablated, and she has been asymptomatic since.
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