scholarly journals Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Rama Krishna Sanjeev ◽  
Seema Kapoor ◽  
Manisha Goyal ◽  
Rajiv Kapur ◽  
Joseph Gerard Gleeson

We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known geneTMEM67(also called MKS3).

2020 ◽  
Vol 14 (1) ◽  
pp. 22-27
Author(s):  
Samarth Mathapathi ◽  
Michael Preziosi

Systemic Lupus Erythematosus (SLE) is a chronic multisystemic inflammatory disorder that can present with a wide array of signs and symptoms. Hepatic involvement is commonly limited to a subclinical biochemical transaminitis while clinically significant liver disease is rare. A case of a 22-year-old female who presented with abdominal pain, fevers, arthralgia, and several hepatic hypodense lesions with normal liver function tests is reported in this study. She failed to improve with antibiotics and infectious workup was largely unrevealing. She was found to have a positive ANA, high titers of anti-double-stranded DNA antibody, and was ultimately diagnosed with new-onset SLE with hepatic aseptic micro-abscesses. Her symptoms were self-limiting, and she was later started on a low-dose prednisone taper and hydroxychloroquine. This case demonstrates that hepatic involvement, despite normal liver function tests, should be considered in SLE patients presenting with abdominal pain.


Author(s):  
Vimala Manne ◽  
Padmaja Pinjala

<p class="abstract"><strong>Background:</strong> Assessment by liver biopsy remains the gold standard in defining drug induced liver disease. Liver biopsy is an invasive procedure. Hence, a technique that is simpler is required to detect drug induced liver dysfunction. The profile of liver function tests (LFT) abnormalities, provides an initial guide to the clinical syndrome of drug induced hepatotoxicity. This study attempts to draw a possible correlation as well as to derive insight into the involvement of liver in drug eruptions through simple liver function tests.</p><p class="abstract"><strong>Methods:</strong> 112 cases of patients with drug rash whom we have a tendency to saw within the department of medicine as out-patients and in-patients since 2015 to 2018 in Osmania General Hospital, Katuri Medical College and Hospital and Dr. V. R. K Women’s Medical College, Teaching Hospital and Research Centre were enclosed during this study. Total number of cutaneous drug rash cases enrolled: 83 Total number of drug rash cases with Liver Function Test abnormalities: 17.<strong></strong></p><p class="abstract"><strong>Results:</strong> Out of 83 patients of drag rash 20% (17) had liver function test abnormalities while 80% (66) had normal hepatic function. Out of 17 drug rash cases with liver function test abnormalities 35% (6) were between 4-14 years of age group. Out of 17 drug rash cases with liver function test abnormalities 70.6% (12) were males and 29.4% (5) were females.</p><p class="abstract"><strong>Conclusions:</strong> To conclude, a sound knowledge of morphological patterns of drug rashes with hepatic involvement, drugs implicated in causing drug rashes and hepatic dysfunction and an easy detection of impending danger by the simple biochemical tests (liver function tests) can evert a major crisis and thus help the clinicians to better manage their cases.</p>


2018 ◽  
Vol 5 (1) ◽  
pp. 47
Author(s):  
Denesh Narasimhan ◽  
Pasupathi Ponnusamy ◽  
M. Sathish

Background: Dengue fever is an exceedingly common tropical infection in India. It can affect the liver with a wide spectrum of manifestations. The aim of the study was to analyse the liver function tests derangement in serologically proven dengue cases.Methods: Patients who were Dengue IgM positive were included in this study. All the patients underwent liver function tests.Results: Of 1oo patients, 33% had less than 2-fold increase in ALT levels, 18% had 2-4-fold increase, 20% had 4-10-fold increase and 11% had more than 10-fold increase. Overall 18% had normal values and 82% had values of ALT above normal. With regard to AST 8% had normal values, 26% had less than 2-fold normal, 26% had 2-4-fold increase, 25% had 4-10-fold increase and 15% had greater than 10-fold increase. 92% of patients had values above normal. Bilirubin levels were elevated in 5% of cases. Alkaline phosphatase levels were elevated in 25% of cases; serum globulins were increased in 9% of cases. Serum proteins were low in 43% of cases and serum albumin was low in 31% of cases.Conclusions: The spectrum of hepatic involvement in dengue fever can vary from asymptomatic biochemical involvement to severe acute liver cell injury. Hyperbilirubinemia may also be observed. Low albumin levels may be present and may be a marker of the critical phase of the disease.


2014 ◽  
Vol 52 (08) ◽  
Author(s):  
KC Grotemeyer ◽  
H Wilkens ◽  
F Lammert ◽  
R Bals ◽  
R Kaiser

Endoscopy ◽  
2006 ◽  
Vol 38 (11) ◽  
Author(s):  
BJ Egan ◽  
S Sarwar ◽  
M Anwar ◽  
C O'Morain ◽  
B Ryan

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