Results 11 to 20 of about 4,013 (133)
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis. [PDF]
Muscle NerveABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Camelo-Filho AE +8 more
europepmc +2 more sources
Journal of Clinical and Scientific Research, 2022 Diabetic ketoacidosis (DKA) is the most common life-threatening complication of diabetes, especially in type 1 diabetes mellitus (T1DM). Severe dyslipidaemia causing extensive xanthomas is very rarely reported in DKA.
Ochai Attai Ateko +5 more
doaj +1 more source
Tuberous xanthoma with cardiac failure in a child
Journal of Family Medicine and Primary Care, 2022 A 14-year-old girl presented with gradually progressive breathlessness for 3 weeks. On evaluation, it was found that she had left ventricular hypertrophy and nonprogressive R wave in ECG.
Murali Narasimhan +3 more
doaj +1 more source
CHRISMED Journal of Health and Research, 2014 A middle-aged woman presented with a history of asymptomatic lesions over the palms, which were progressively increasing in number. Examination revealed 2-mm sized yellowish papules over the palmar surface of fingers.
Anisha George +2 more
doaj +1 more source
Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation
Lipids in Health and Disease, 2022 Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom are frequently misinterpreted as familial hypercholesterolemia (FH) in children.
Jun Zhang +7 more
doaj +1 more source
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023 Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment‐resistant disorder characterized by early‐onset atherosclerotic and aortic valvular cardiovascular disease if left untreated.
Marina Cuchel +32 more
doaj +1 more source
Evaluation of The Efficacy of Argon Laser in Treatment of Xanthelasma Palpebrarum using Ultrasound Biomicroscopy [PDF]
International Journal of Medical Arts, 2020 Background: Xanthelasma palpebrarum [XP] is the most common of the xanthomas with asymptomatic, symmetrical, bilateral, soft, yellow, polygonal papules around the eyelids.
Essam Mohamed +2 more
doaj +1 more source
Homozygous familial hypercholesterolemia with corneal arcus: A rare case report
Indian Journal of Paediatric Dermatology, 2020 We report here a case of an 11-year-old adolescent boy who presented with asymptomatic multiple yellowish skin lesions and corneal arcus. A family history of similar complaints was present in the elder male sibling who died with underlying coronary ...
Bablu Kumar Gaur +2 more
doaj +1 more source
A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor
Tremor and Other Hyperkinetic Movements, 2018 Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.
Malco Rossi +4 more
doaj +1 more source
Skin manifestations of secondary dyslipidemia: a case report
Российский кардиологический журнал, 2022 In the presented case report, 27-year-old female patient consulted a dermatologist and a lipidologist due to the appearance of small red spots on the skin. At the stage of examination in the lipid center, the patient was diagnosed with diabetes.
Z. F. Kim +3 more
doaj +1 more source