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Early Onset of Wilson's Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review.
Case Reports Hepatol
November 2024
Paediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Wilson's disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, resulting in copper accumulation. Symptoms rarely appear before the age of 5, almost never before 3. The phenotypic variability of WD suggests the presence of modifying factors, making early diagnosis challenging.
View Article and Find Full Text PDFA Hidden Cause of Hypertransaminasemia: Liver Toxicity Caused by Chelidonium Majus L. : Report of Two Cases of Herb-Induced Liver Injury and Literature Review.
Am J Ther
July 2024
2nd Department of Internal Medicine, Cluj County Clinical Emergency Hospital, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Background: In instances where individuals manifest elevated transaminase levels without a clearly discernible cause, a comprehensive patient history proves invaluable in unveiling latent triggers. In this report, we present 2 cases of herb-induced liver injury (HILI) characterized by severe hypertransaminasemia attributed to the consumption of Chelidonium majus L . (also known as greater celandine [GC]), an agent considered an alternative therapeutic remedy.
View Article and Find Full Text PDFAn unusual manifestation of Langerhans cell histiocytosis in the gastrointestinal tract.
Rev Esp Enferm Dig
January 2024
Aparato Digestivo, Hospital General Universitario Gregorio Marañón, ESPAÑA.
Langerhans cell histiocytosis (LCH) is a monoclonal proliferative disease that can affect multiple organs. It is a rare disorder, and children are the most commonly affected. Its classification depends on whether the disease is localized (usually bone or skin) or systemic.
View Article and Find Full Text PDFDe Sanctis-Cacchione Syndrome with Subdural Effusion: A Rare Case from India with Review of Literature.
Indian J Dermatol
January 2023
Department of Dermatology, College of Medicine and Sagar Dutta Hospital, Kolkata, West Bengal, India.
De Sanctis-Cacchione syndrome (DCS) formerly known as xerodermic idiocy is characterised by cutaneous photosensitivity, microcephaly, mental retardation, short stature, hypogonadism, spasticity, peripheral neuropathy and sensorineural deafness. Here in, we present the case of a four and half years old male child with features of severe acute malnutrition (SAM) with a typical bird like facies and sunken eyes who had history of photosensitive pruritic pigmentary skin lesions on sun exposed areas from a very early age of six months. Gross developmental delay, ataxia, microcephaly, short stature, hypogonadism and cachectic wasting were identified on examination and hypertransaminasemia and hypothyroidism were recorded from biochemical profile.
View Article and Find Full Text PDFAn unusual cause of liver lesions.
Rev Esp Enferm Dig
June 2024
Aparato Digestivo, Hospital Central de la Defensa "Gómez Ulla".
We present the case of a 68-year-old female with no relevant medical history, who is evaluated for weight loss. An initial blood test showed mild hypertransaminasemia with negative serologies, autoimmunity and tumoral markers. Abdominopelvic CT revealed multiple liver lesions with ring enhancement, compatible with metastasis, as well as suspicious subcarinal adenopathy.
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