Progressiv familial intrahepatic cholestasis type 1 case presentation
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This document describes the case of a 4-year-old male child presenting with itching, jaundice, and diarrhea for 3 months. He had a family history of similar cases resulting in death from liver disease. Liver tests showed elevated alkaline phosphatase. A liver biopsy showed mild degeneration and normal bile ducts. Immunostaining was positive for BSEP and MRP3. Based on the clinical features and test results, the child was diagnosed with Progressive Familial Intrahepatic Cholestasis type 1.
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Abdelwahb elsaadany
This document describes the case of a 14-year-old male patient with recurrent jaundice and dark frothy urine since age 6. Laboratory tests revealed elevated bilirubin and alkaline phosphatase levels. Imaging showed normal liver and bile ducts. A liver biopsy showed preserved lobular architecture with cholestatic changes in hepatocytes. He was diagnosed with benign recurrent intrahepatic cholestasis type 1, a genetic condition characterized by recurrent episodes of jaundice typically beginning in childhood and continuing into adulthood.
Budd chairi syn by dr sirijan
The document describes the case of an 18-year-old male admitted with blood in vomitus and black tarry stool. On examination, he was found to have pallor and splenomegaly. Further tests revealed elevated liver enzymes. Doppler ultrasound and MRI showed no flow in the hepatic veins with features suggestive of Budd-Chiari syndrome, a rare disorder where the hepatic veins are blocked. The patient was diagnosed with Budd-Chiari syndrome and treated medically to manage ascites and provide anticoagulation.
Presentation on cholelithiasis
Mrs. Omi Devi, a 67-year-old female, presented with abdominal pain for 12 days and was diagnosed with cholelithiasis after an ultrasound revealed gallstones. She has a history of diabetes and hernia surgery. On physical examination, she had pain in her abdomen on palpation at the site of her recent laparoscopic cholecystectomy. Her lab tests showed elevated bilirubin levels. She is being treated medically with antibiotics and pain medications and was advised dietary and lifestyle modifications to manage her condition.
Recurrent vomiting
1) A 1.5 year old boy presented with recurrent episodes of intense vomiting followed by respiratory distress and lethargy, always preceded by fever.
2) Between episodes he was completely normal. Investigations during an episode revealed hypoglycemia, metabolic acidosis, and ketones in urine.
3) Urine organic acid analysis found increased methylhydroxy butyric acid, acetoacetic acid and other organic acids, leading to a diagnosis of an organic aciduria due to beta ketothiolase deficiency.
Direct jaundice
This document discusses direct jaundice and neonatal cholestasis. It begins by defining direct jaundice and noting that it indicates cholestasis and hepatobiliary dysfunction. The causes of neonatal cholestasis are then outlined, including extrahepatic (e.g. biliary atresia), intrahepatic (e.g. PFIC), and hepatocellular disorders (e.g. metabolic and infections). The diagnostic evaluation, management, and specific conditions like biliary atresia and choledochal cyst are then reviewed over multiple sections.
Cholestasis
Neonatal cholestasis is defined as prolonged elevation of conjugated bilirubin beyond the first 14 days of life. It can be caused by defects in intrahepatic bile production, bile transport, or bile flow obstruction. The document discusses the etiology, clinical presentation, evaluation, and management of neonatal cholestasis. Key tests include liver enzymes, genetic testing, imaging, and liver biopsy. Biliary atresia and neonatal hepatitis are the most common causes and require different treatment approaches. The Kasai procedure is the surgical treatment for biliary atresia but transplantation may eventually be needed in most cases.
neonatal cholestasis by dinesh viruvanti
1. Neonatal cholestasis is defined as conjugated hyperbilirubinemia in a newborn. It can be caused by intrahepatic or extrahepatic conditions.
2. Common etiologies include biliary atresia, metabolic diseases like galactosemia, and infections. Biliary atresia is the most common cause of extrahepatic cholestasis.
3. Evaluation involves history, physical exam, lab tests including liver function tests and imaging, and may require liver biopsy. Treatment depends on the underlying cause but may include surgical intervention or lifestyle changes.
GASTRIC CARCINOMA
This document presents two case studies of patients with gastric cancer. The first case is a 60-year-old male who presented with epigastric pain and vomiting for two months. Various tests were performed and it was determined that he had a signet ring cell type adenocarcinoma of the stomach. He underwent a laparoscopic gastrectomy. The second case is a 72-year-old male who also presented with epigastric pain and chest heaviness. He was found to have adenocarcinoma of the stomach as well and underwent a laparoscopic gastrectomy. The document then provides further details on the anatomy, histopathology, classification, staging, signs and symptoms, and management of
Nephrotic syndrome.pptx
This document summarizes a clinical meeting presentation about a 5-year-old female patient named Jannat. She presented with generalized swelling, scanty urination, and white urine precipitate. Her history revealed previous similar illnesses treated with steroids. On examination, she had puffy face and edema. Tests showed nephrotic syndrome with urine infection. She was diagnosed with infrequent relapse nephrotic syndrome and urine infection. She was treated with antibiotics, steroids, diet restrictions, and monitoring.
familial adenomatous polyposis
This document contains the medical records of a 39-year-old female patient admitted with a 3-year history of abdominal pain and weakness. Physical examination revealed pallor. Laboratory tests showed anemia and elevated CEA. Imaging found thickening and masses in the colon concerning for cancer. The patient underwent a total proctocolectomy for Familial Adenomatous Polyposis (FAP) with carcinoma of the right colon. Pathology confirmed adenocarcinoma arising in adenomatous polyposis. The patient was discharged and started on chemotherapy due to lymph node involvement.
Mesenteric ischemia presentation by Dr.NOSHI Capital Hospital Islamabad Paki...
The document describes a case of mesenteric ischemia in a 36-year-old male patient who presented with lower abdominal pain and vomiting. Key details include:
- The patient reported 4 days of lower abdominal pain that became severe and was accompanied by vomiting for 1 day.
- Examination found abdominal tenderness and guarding. Imaging showed fatty liver and mild ascites.
- Exploratory laparotomy revealed infarcted small intestine requiring a double barrel stoma.
- The patient was optimized after surgery and underwent stoma reversal surgery.
- Mesenteric ischemia occurs when blood supply to the intestine is inadequate and can be acute or chronic, having various etiologies including embol
a case presentation of SLE
A 28-year-old woman presented with paraplegia and abdominal pain. She had a history of type 2 diabetes for 6 years and was diagnosed with systemic lupus erythematosus based on positive ANA and anti-dsDNA tests. MRI showed disc bulges in her spine and she was found to have acute transverse myelitis. She developed recurrent urinary tract infections with Klebsiella that were difficult to treat. An abdominal mass was discovered on CT and biopsy was inconclusive. She required long-term antibiotic treatment and management of her neurogenic bladder and lupus.
Similar to Progressiv familial intrahepatic cholestasis type 1 case presentation (20)
Celiac common presentation of a uncommon disease saved with date
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Direct hyperbilirubinaemia in neonate by Dr. Tareq Rahman
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6 year old with resistant rickets
1. An 8-year-old male presented with resistant rickets and bony deformities. Initial workup found hypocalcemia, hypophosphatemia, elevated alkaline phosphatase, and normal parathyroid hormone.
2. Further testing revealed proximal renal tubular acidosis, hypokalemia, and firm hepatomegaly. Wilson's disease was suspected and confirmed with elevated urinary copper levels.
3. The patient was diagnosed with Wilson's disease presenting as resistant rickets and proximal renal tubular acidosis. He was started on chelating agents and potassium citrate to treat the Wilson's disease and renal tubular acidosis respectively.
Wilson Disease - Beyond the liver and brain…- Dr Ujjal Poddar
This document discusses the non-hepatic and non-neurological manifestations of Wilson's disease. It summarizes several studies that found the majority of Wilson's disease patients presented with hepatic or neurological symptoms, while a minority exhibited other manifestations. These included bone, joint, eye, heart, blood, kidney, skin and endocrine issues. Specifically, it notes that bone and joint pain can be early presenting symptoms and unexplained hemolysis in young adults should raise suspicion for Wilson's disease screening. The document concludes that while uncommon, recognition of non-hepatic manifestations is important for fully characterizing and managing Wilson's disease.
Role of liver biopsy - Dr Banumathi
This document discusses the role of liver biopsy in determining the stage and cause of liver disease. A liver biopsy can reveal the stage of disease, whether it is caused by autoimmune, metabolic, or viral factors. Early stage disease may show minor changes like mild steatosis, while later stages show features like portal inflammation, interface hepatitis, steatosis, glycogenated nuclei, Mallory bodies, and copper accumulation. Copper stains on biopsy tissue can help determine if Wilson's disease is present, shown by red-orange or black-brown copper deposits. The document also describes several case examples where liver biopsy aided in diagnosis, such as diagnosing Wilson's disease in an 8-year old male based on cirrhosis and
Key publications on wilson disease in last 3 years
This document summarizes key publications on Wilson disease from the last 3 years. It discusses clinical profiles of Wilson disease patients, patient and graft survival rates post-liver transplantation, issues with immunosuppressive regimens post-transplant, and experimental adenoviral gene therapy providing long-term correction of copper metabolism in a mouse model of Wilson disease. It also presents studies finding that increased levels of non-ceruloplasmin bound and exchangeable copper are associated with oxidative stress and neurological worsening in Wilson disease patients.
Acute liver failure with hemolysis
This document summarizes a case discussion of a 10-year-old female patient presenting with acute liver failure and hemolysis who was potentially in need of a liver transplant. The patient had symptoms for 4 weeks and was initially evaluated at a nearby hospital before being referred for further evaluation. On examination, she had pallor, icterus, periorbital puffiness, distended abdomen, and enlarged liver and spleen. Investigations showed abnormal liver function tests and signs of hemolysis. Based on further testing, she was diagnosed with Wilson's disease. Due to developing grade 2 encephalopathy, she underwent living-related liver transplantation with her mother as the donor. She recovered well after the transplant.
When does one use zinc alone - Dr Vinay Goyal
This document discusses the use of zinc alone in treating Wilson's disease. Zinc is the preferred initial treatment as it is nontoxic and prevents copper absorption in the intestine. It works by inducing intestinal metallothionein and blocking copper absorption and resorption from the gastrointestinal tract. Zinc can be used long-term for maintenance therapy in Wilson's disease patients, including during pregnancy where it has been shown to be safe. The document also discusses combinations of zinc and penicillamine, noting some studies have found higher mortality with this combination compared to other therapies.
Panel discussion: Developmental, speech, psychiatric and counseling issues - ...
The panel discussion focused on developmental, speech, psychiatric and counseling issues related to Wilson's disease. The panelists were experts in neurology, speech pathology, psychiatry and counseling. Key topics discussed included:
- Common neurological and psychiatric manifestations of Wilson's disease including movement disorders, dysarthria, and behavioral/mood changes.
- The importance of considering Wilson's disease in young patients presenting with recent neuropsychiatric symptoms that are treatment resistant.
- Challenges in diagnosing and managing dominant psychiatric presentations of Wilson's disease.
- The role of various specialists like speech therapists and counselors in addressing issues related to speech, behavior, rehabilitation and quality of life in patients with Wilson's
Hepatic and Neuro Wilson disease - Is there a difference? - Dr John Matthai
This document discusses the differences between hepatic and neurological involvement in Wilson disease. It notes that the pathophysiology of how copper overload leads to liver vs. brain disease is not fully understood. The document then lists several clinical observations that may provide clues about the pathophysiology: 1) Not all copper overload syndromes affect both the liver and brain. 2) Neurological disease can sometimes occur without liver involvement in Wilson disease patients. 3) Copper chelating treatments can improve both liver and neurological symptoms.
Patient with neuro-hepatic Wilson disease- worsened on starting d-penicillami...
Patient with neuro-hepatic Wilson disease- worsened on starting d-penicillamine. Discussion on management beyond drugs - Dr Pettarusp Wadia
Diagnostic challenges in Wilson disease: do scoring systems help? - Dr Harsha...
This document discusses diagnostic challenges in Wilson disease and whether scoring systems help. It summarizes that experts view hepatic and neuropsychiatric Wilson disease differently. It then discusses several prognostic scoring systems used for acute liver failure, including Child-Pugh, MELD, and Nazer scores. Data is presented on etiologies of acute liver failure from studies in India. Scoring systems for Wilson disease are also discussed, noting they have variable sensitivity and many patients who died could not undergo testing. The take home message is that appropriate combinations of symptoms, signs, and screening tests are usually adequate for diagnosis, and the main challenge is considering Wilson disease initially.
Panel Discussion - Genetics - Is there a role in clinical practice? - Dr Seem...
Genetic testing plays an important role in the diagnosis and management of Wilson disease (WD), though it cannot replace standard biochemical tests. In the presented cases:
1) Genetic testing confirmed diagnosis in a child with classic WD, and showed that a negative result did not rule out WD given genetic heterogeneity.
2) It was useful for family screening and managing a fulminant case.
3) It was the preferred method for screening asymptomatic siblings.
4) While it did not replace liver biopsy, it provided additional information in inconclusive cases.
5) Treatment should not be based on genetic results alone without biochemical abnormalities.
Genetic counseling was recommended for families planning pregnancy due
Choice and Monitoring of drug therapy - Dr Ashish Bavdekar
Wilson's disease is treated with chelating agents like penicillamine or trientine to reduce copper levels over 6-12 months. Zinc is used long-term to maintain a negative copper balance. Patients require lifelong monitoring clinically and through liver enzymes and urinary/serum copper levels to determine treatment effectiveness, compliance, and adverse effects. Biochemical improvement can take variable times from months to years.
Copper in health and disease - Dr Srinivas Sankaranarayanan
Copper is an essential trace element that plays an important role in many biological processes as a co-factor in enzymes. Both copper deficiency and toxicity can cause disease. Copper homeostasis is tightly regulated in the body by transport proteins like ATP7A and ATP7B, as free copper above certain levels can be toxic. Genetic mutations in ATP7B can cause Wilson's disease, characterized by copper accumulation in tissues. While Indian Childhood Cirrhosis was once thought to be caused by excess copper intake, it has disappeared as copper utensils were replaced, suggesting other etiologies. There is increasing evidence for the role of copper in neurodegenerative diseases like Alzheimer's through oxidative stress mechanisms.
Why did d-penicillamine disappear from the market?
This document summarizes a talk on the shortage of the drug penicillamine in India. It discusses that penicillamine disappeared from the market in mid-2016 due to lack of raw material supply from China. The official reason was that the raw material supplier was unavailable, but the actual reasons may have been that the drug came under price control and suppliers did not want to provide raw materials at a competitive price. It also discusses the roles of the Central Drugs Standard Control Organization and National Pharmaceutical Pricing Authority in regulating drug prices and availability in India. The real issue highlighted is India's increasing dependence on China for drug ingredients and the need to support domestic bulk drug manufacturing.
Role of MRI in Wilson disease - Dr Sanjib Sinha
Wilson's disease is a rare genetic disorder that causes copper to accumulate in the brain and other vital organs. MRI plays an important role in evaluating patients with suspected Wilson's disease. Key findings on MRI include signal changes in the basal ganglia, midbrain, pons, and cerebral white matter. Characteristic signs include T1 hyperintensity of the globus pallidus, the "face of the giant panda" sign, and CPM-like changes resembling osmotic demyelination. Serial MRI can show improvement in many patients responding to treatment, while extensive changes correlate with poorer prognosis. Advanced techniques like DTI reveal more widespread white matter abnormalities than conventional MRI and help assess disease severity.
Complications of drug therapy - Dr Malathi Sathiyasekaran
1) The document discusses various drug therapies for Wilson disease including penicillamine, zinc, trientine, and tetrathiomolybdate.
2) Penicillamine has severe side effects in 30% of patients including kidney toxicity, lupus-like syndrome, and bone marrow suppression. Its complications can be both direct chemical toxicity or immune-mediated.
3) Zinc has very few side effects but can cause gastric irritation. It is less likely than other drugs to cause neurological deterioration.
How do we monitor neurological improvement - Dr Rukmini Mridula
This document discusses monitoring neurological improvement in patients with Wilson's disease undergoing treatment. It outlines several scales that can be used to stage and monitor patients, including the Chu staging scale and the Global Assessment Scale for Wilson's Disease. When monitoring therapy, clinicians should watch for worsening of symptoms and slowly titrate medications to avoid deterioration. Investigations like urinary copper levels and serum markers can provide information on treatment compliance and effectiveness, while repeat neuroimaging and clinical exams over time assess neurological recovery. Persisting tremors may require additional interventions like thalamotomy.
Wilsons disease and hepatitis dr. abhamoni baro
Case: Prolonged acute hepatitis – is there more to it?
Presenter: Abhamoni Baro
Moderator: Ashish Bavdekar
Panelists: Prakash Vaidya, Harshad Devarbhavi, Seema Alam
Acute viral hepatitis dos and don’ts dr. mani singhal
Case: Acute viral hepatitis- dos and don’ts
Presenter: Mani Singhal
Moderator: John Matthai
Panelists: Shakuntala Prabhu, S K Yachha, Aabha Nagral
Child with acute liver failure dr. kirtichandra kodali
A 3-year-old boy presented with fever, cough, loose stools and increasing drowsiness over the past few days. On examination, he showed signs of dehydration and liver enlargement. Laboratory tests found elevated liver enzymes and ammonia levels, indicating acute liver failure. The cause was determined to be paracetamol toxicity from an accidental overdose, as serum paracetamol levels were found to be toxic. The patient was treated with N-acetyl cysteine and supportive care, and his condition improved such that his liver function normalized and he was discharged.
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Wilson Disease - Beyond the liver and brain…- Dr Ujjal Poddar
Wilson Disease - Beyond the liver and brain…- Dr Ujjal Poddar
Key publications on wilson disease in last 3 years
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Panel discussion: Developmental, speech, psychiatric and counseling issues - ...
Panel discussion: Developmental, speech, psychiatric and counseling issues - ...
Hepatic and Neuro Wilson disease - Is there a difference? - Dr John Matthai
Hepatic and Neuro Wilson disease - Is there a difference? - Dr John Matthai
Patient with neuro-hepatic Wilson disease- worsened on starting d-penicillami...
Patient with neuro-hepatic Wilson disease- worsened on starting d-penicillami...
Diagnostic challenges in Wilson disease: do scoring systems help? - Dr Harsha...
Diagnostic challenges in Wilson disease: do scoring systems help? - Dr Harsha...
Panel Discussion - Genetics - Is there a role in clinical practice? - Dr Seem...
Panel Discussion - Genetics - Is there a role in clinical practice? - Dr Seem...
Choice and Monitoring of drug therapy - Dr Ashish Bavdekar
Choice and Monitoring of drug therapy - Dr Ashish Bavdekar
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Copper in health and disease - Dr Srinivas Sankaranarayanan
Why did d-penicillamine disappear from the market?
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Complications of drug therapy - Dr Malathi Sathiyasekaran
Complications of drug therapy - Dr Malathi Sathiyasekaran
How do we monitor neurological improvement - Dr Rukmini Mridula
How do we monitor neurological improvement - Dr Rukmini Mridula
Acute viral hepatitis dos and don’ts dr. mani singhal
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There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
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Learning objectives:
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Progressiv familial intrahepatic cholestasis type 1 case presentation
- 1. Dr. Ajay Jhaveri Department of Gastroenterology Jaslok Hospital & Research Centre
- 2. 4yrs male child, 3rd born of non consanguineous marriage Presented in Oct 2010 : Itching since 3 months ? Jaundice since 3 months Intermittent diarrhoea since 3 months Progressive itching Accompanied with jaundice, yellowish discolouration of sclera and clay colored stools Diarrhoea – watery stools, 5-6 / day, lasting for a week
- 3. Milestones normal No h/o fever No h/o pain in the abdomen No h/o intake of alternative medications
- 4. Patient had 2 elder brothers who expired at the age of 5 years and 9 years. Both presented with • severe itching with a traumatic cataract in one of them, • stigmata of chronic liver disease disease in form of ascites, jaundice and expired due to end stage liver disease Mother also had an abortion and a neonate who expired within 12 hrs of birth before patient was born
- 5. Vitals – Normal. No dysmorphic facies No Pallor, icterus, cyanosis, clubbing, lymphadenopathy and edema feet Scratch marks ++ No stigmata of chronic liver disease Height and weight were below the 5th percentile ( 10.5 kgs, 89 cms ) Abdominal examination- firm hepatomegaly approximately 1.5 cms below the subcoastal margin Rest systemic exam – normal
- 6. Cholestatic liver disease in a 4 yr child with a positive family history
- 7. Progressive Familial Intrahepatic Cholestasis Bile duct paucity Primary Sclerosing Cholangitis Inborn errors of bile acid synthesis
- 8. Test Value Test Value Alk Phos 587 (30-350) Hb 12 gm% AST 52(5-40) WBC 14600 Platelets 445K ALT 50(5-40) Creatinine 0.5 T. Bilirubin 1.5 ( 0.2-1.3) HBsAg Negative D. Bilirubin 1.0 (0.1-0.8) HIV Negative Protein 7.9 Anti HCV Negative Albumin 4.3 ANA Negative AFP 15 ASMA Negative INR 1 Anti LKM1 Negative GGT 29
- 9. Patient had a Liver biopsy 3 years ago at another hospital and another one 6 months before coming to us ( February 2010 ).
- 11. Treatment offered – Operation done – CHOLECYSTO-JEJUNO CUTANEOUS STOMA Post op period: intermittent diarrhoea still persists Itching has been almost completely relieved Has gained 3 kg weight and 7 cms height but is still below the 5th percentile.
- 13. Expanded portal tract, normal bile ducts Normal hepatocytes Mild degeneration Courtesy Dr. Shaila Khubchandani, Jaslok Hospital
- 14. Microscopy: Mild degeneration of the hepatocytes Bile ducts normal Expanded portal area Inflammatory cells No Bile stasis
- 15. BSEP stain positive GGT stain absent Courtesy Dr. Alex Kinsley, Kings College, U.K. MRP 3 stain positive
- 16. Bile canaliculi hepatocyte Bile plugs (Bylers bile) hepatocyte Courtesy Dr. S. Khubchandani, JHRC
- 17. 4 year male child with cholestatic liver disease with raised alkaline phosphatase normal GGT with positive family history with positive BSEP and MDR3 staining is Progressive Familial Intrahepatic cholestasis type 1