Liver involvement in Graves’ disease can be seen as a part of autoimmune process or rarely, due to the direct effects of thyrotoxicosis on liver. Hyperthyroidism can also have gastrointestinal manifestations like frequent bowel movements, diarrhoea, even malabsorption with steatorrhoea. We report a 36-year-old man with hyperthyroidism, presenting with cholestatic jaundice and persistent small bowel diarrhoea. He was diagnosed to have Graves’ disease and after ruling out more common causes, the cause of cholestatic jaundice was supposed to be Graves’ disease. Considering this possibility, the patient was started on treatment with carbimazole. As patient’s thyroid function tests started improving, he showed significant clinical and biochemical improvement from liver point of view as well.
20 y/o male with history of Hodgkin’s lymphoma in remission, anxiety,
and depression, presented with chills, fatigue, nausea, pruritus, greasy
stools, and dark urine.He had started Ashwagandha supplemntation based
on recommendations by his psychiatric provider. After discontinuation,
his symptoms resolved illustrating the herbs potential to cause
cholestatic jaundice.
Cholestatic jaundice is usually linked to a malignant disease when it is secondary to a mechanical obstruction of the bile duct or due to hepatic metastasis. As a paraneoplastic syndrome, cholestasis has been described in lymphoproliferative disorders, in prostate cancer and as the Stauffer syndrome with non-metastatic dysfunction in patients with renal cell carcinoma (RCC). We present the case of a 61 year old patient with a paraneoplastic manifestation with cholestatic jaundice due to RCC with kindney and lung metastases. Clinical characteristics of patients with RCC vary and sometimes manifest in a peculiar way. Cholestatic jaundice is a rare paraneoplastic syndrome associated with RCC and with the exclusion of more frequent causes, it should be taken into account in the differential diagnosis. This rare but possible association requires prompt recognition, as prognosis correlates with disease stage and influences patient’s overall survival, and an early recognition of this syndrome may improve, sometimes, patients’ outcome.
The report describes a patient with cholestatic jaundice who had incidentally detected parathyroid hormone-independent hypercalcaemia. The differential diagnosis for this presentation includes systemic granulomatous and infiltrative disorders, drug-induced liver injury and malignancy. As the initial investigations were non-contributory towards the aetiology, she was given steroids and later plasma exchange for symptomatic treatment. The differentials were revised again in view of no clinical and biochemical response. A repeat fine-needle aspiration cytology of the thyroid nodule (seen on positron emission tomography/CT) revealed papillary carcinoma of the thyroid. The patient underwent total thyroidectomy. There was a complete normalisation of liver function tests and serum calcium, and resolution of pruritus 3 months post surgery. She was retrospectively diagnosed as a case of papillary carcinoma of the thyroid with paraneoplastic manifestations—hypercalcaemia and cholestatic jaundice—which got resolved with treatment of the primary tumour.
Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1–2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the CYP27A1 gene resulting in the impairment of sterol 27-hydroxylase enzyme activity.Patients and Methods: Here we present the study on two siblings with neonatal cholestasis diagnosed with sterol 27-hydroxylase deficiency. The clinical, biochemical, histological, and molecular presentation at the time of diagnosis and detailed follow-up were described. An extensive overview of the literature regarding patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis was also provided.Results: Patient 1 presented with cholestatic jaundice since 10 weeks of age and developed the end-stage liver disease requiring liver transplantation at 8 months of age but finally succumbed 3 years post-transplantation due to autoimmune hemolytic anemia and multiorgan failure development. Next-generation sequencing performed post mortem, revealed him to be homozygous for the known pathogenic splicing variant c.1184+1G>A in the CYP27A1 gene. Patient 2 (sibling) presented with cholestatic jaundice since the first day of life. Sanger sequencing of CYP27A1 revealed the same results. Chenodeoxycholic acid treatment was introduced just after diagnosis, at 4 months of age. Fourteen patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis were reported in the literature, in most of them presenting as a self-limiting disease.Conclusions: An early recognition and treatment initiation in CTX is essential.
Cholestatic Jaundice as a Manifestation of Multisystem Inflammatory Syndrome in Children (MIS-C)
