scholarly journals A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature

2020 ◽  
Vol 6 (2) ◽  
pp. 59-62
Author(s):  
Fransisca Yustika Dewi Siahaan ◽  
Hery Djagat Purnomo ◽  
Khristophorus Heri Nugroho Hario Seno ◽  
Rakhma Yanti Hellmi
Keyword(s):  
Connective Tissue ◽  
Short Stature ◽  
Primary Sclerosing Cholangitis ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Sclerosing Cholangitis ◽  
Rare Case ◽  
Biliary Duct ◽  
Biliary Stenting ◽  
Excellent Outcome

Background: Primary sclerosing cholangitis (PSC) is a rare chronic immune-mediated liver disease affecting intra and extrahepatic bile ducts, in which inflammation and fibrosis are the main factors that lead to biliary stricture. The pathogenesis of this disease is still unclear. It happens approximately 0.5 to 1.3 cases per 100,000 person-years in Northern Europe. PSC is difficult to diagnose until complications arise. PSC can also be a manifestation of mixed connective tissue disease (MCTD) in the liver. A chronic immune disease that has occurred since childhood may result in delayed development and short stature. Case Presentation:   A 18-year-old female presented with icteric, anemia, short stature, and absence of menstruation. Laboratory and radiological findings suggested obstruction of intra and extrahepatic biliary duct (conjugated bilirubin 11,80 mg/dL), severe anemia, normal sex hormone levels, increased RNP/SM antibodies. Histopathology showed liver cirrhosis suggestive for primary sclerosing cholangitis. The patient then was given biliary stenting, transfusion of packed red cell, immunosuppresive, corticosteroid, ursodeoxycholic acid. Within a year of treatment, there was a significant decrease of direct bilirubin and improvement in symptoms.Conclusion: Patient with PSC, MCTD, and short stature is a very rare case. This is the first case that has been found in dr. Kariadi Hospital, Semarang. It has high mortality rate and difficult to diagnose and treat. According to multiple guidelines, this patient should have liver transplantation , but in this case, biliary stenting and oral treatments have resulted in an excellent outcome.

scholarly journals Thrombotic Thrombocytopenic Purpura with Mixed Connective Tissue Disease –Non-immune Hemolytic Anemia with Autoimmune Disease - Rare Case Report

2019 ◽  
Vol 38 (1) ◽  
pp. 46-48
Author(s):  
Majed Abdul Basit Momin ◽  
B Saroj Kumar Prusty ◽  
Amitha Reddy
Keyword(s):  
Connective Tissue ◽  
Thrombotic Thrombocytopenic Purpura ◽  
Hemolytic Anemia ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Rare Case ◽  
Fatal Outcome ◽  
Microangiopathic Hemolytic Anemia ◽  
Thrombocytopenic Purpura ◽  
Immune Hemolytic Anemia

TTP (Thrombotic Thrombocytopenic purpura) is a nonimmune, microangiopathic hemolytic anemia (MAHA), associated with thrombocytopenia, fever, neurologic or renal dysfunction. Mixed connective tissue disease (MCTD) is not a specific disorder and identified serologically by high titers of of antibodies to RNP. Coexistence of TTP with asymptomatic MCTD is rare encounter. We describe here a rare case of secondary TTP in a 42 year, old female presenting as menorrhagia for seven days, severe headache and one episode of seizure. This case emphasizes the early diagnosis of TTP and its association with underlying condition for proper management and to avoid fatal outcome. KeyWords: Microangiopathic hemolytic anemia (MAHA); Thrombotic Thrombocytopenic purpura( TTP); hemolytic uremic syndrome(HUS); Mixed connective tissue disease(MCTD); U1-Ribonucleoprotein (RNP); Antineuclear antibody(ANA); A disintegrin and metalloproteinase with a thrombospondin type 1 motif,member 13(ADAMTS 13) J Bangladesh Coll Phys Surg 2020; 38(1): 46-48

Severe and refractory myositis in mixed connective tissue disease: a description of a rare case

Lupus ◽  
2010 ◽  
Vol 19 (14) ◽  
pp. 1659-1661 ◽  
Author(s):  
CC Bonin ◽  
B. Santos Pires da Silva ◽  
LM Mota ◽  
JF de Carvalho
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Rare Case

scholarly journals A Rare Case of Fatal Hemorrhagic Stroke in a Young Female with Early Mixed Connective Tissue Disease

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
James R. Agapoff IV
Keyword(s):  
Magnetic Resonance ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Computerized Tomography ◽  
Mixed Connective Tissue Disease ◽  
Rare Case ◽  
Hemorrhagic Stroke ◽  
Parietal Lobe ◽  
Connective Tissue Diseases ◽  
The Brain

Mixed connective tissue disease (MCTD) often presents as a slow progressive illness with low morbidity and mortality. Serious central nervous system disease is uncommon, and fatal outcomes are rarely seen. Here, we report a rare case of fatal hemorrhagic stroke in a 43-year-old female with a rapidly progressive MCTD. She presented to primary care with a history of headaches, visual disturbances, and unprovoked lower extremity swelling and pain. A rheumatological workup showed positive antinuclear (ANA) and ribonucleoprotein (RNP) antibodies. Magnetic resonance imaging (MRI) found a 12 mm hemorrhage along a cortical sulcus of the right frontal lobe, and a follow-up magnetic resonance angiography (MRA) and ophthalmological exam showed no definitive signs of vasculitis. Over the course of her workup, she developed swollen hands, Raynaud’s syndrome, myalgias, and synovitis characteristic of evolving MCTD. The patient then began to experience severe headaches over one month. Repeat MRI was ordered, but never completed, and the patient presented to the emergency department (ED) with a severe, right-sided headache, and left-sided visual disturbance. In the ED, she began to display evidence of delirium and seizure activity and became unresponsive. A computerized tomography scan (CT) of the brain showed a right parietal lobe intraparenchymal hemorrhage approximately 5 × 3 × 5 cm in size with secondary mass effect including mid- and hind-brain herniation. Computerized tomography angiography (CTA) of the brain showed signs of large vessel vasculitis. A craniectomy was performed; however, the patient never regained consciousness and died several days later. Vasculitis, while rare in connective tissue diseases, should be aggressively assessed for and managed in patients with any early signs and symptoms of cerebrovascular involvement to prevent fatal outcomes.

scholarly journals AB1138 High levels of anti-u1rnp and anti-sm in mixed connective tissue disease patients

2018 ◽  
Author(s):  
E. Grau Garcia ◽  
P. Jover Carbonell ◽  
I. Martinez Cordellat ◽  
R. Negueroles Albuixech ◽  
J.E. Oller Rodriguez ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease
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