Presentation
Hirschsprung's disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease. [mayoclinic.org]
A 45-year-old man with a past history of diabetes mellitus, coronary artery disease with two-vessel disease, and peripheral arterial occlusive disease with gangrene of the left big toe, status post amputation, presented to the emergency department. [ncbi.nlm.nih.gov]
Its mode of inheritance is assumed to be autosomal recessive; however, parental consanguinity was not present in either described case. [emedicine.medscape.com]
These webs are often present at birth. Often, the cause is unknown. Symptoms vary somewhat depending on whether the blockage develops slowly or occurs suddenly. Usually, the blockage and symptoms develop gradually over weeks or months. [merckmanuals.com]
An important finding is that surgery does not treat any anxiety or depression that is also present.11, 12 For those patients with recurrent or persistent abdominal pain, they are re-evaluated for possible re-narrowing of the celiac artery either due to [rarediseases.org]
Entire Body System
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Fatigue
Some of the symptoms are the same as those of gradually developing blockages: fatigue, an enlarged and tender liver, and abdominal pain in the upper abdomen. [merckmanuals.com]
The characteristic symptoms include inability to maintain penile erection, fatigue of both lower limbs, intermittent bilateral claudication with ischemic pain, and absent or diminished femoral pulses along with pallor or coldness of both lower extremities [ncbi.nlm.nih.gov]
[…] include: Swollen belly Vomiting, including vomiting a green or brown substance Constipation or gas, which might make a newborn fussy Diarrhea In older children, signs and symptoms can include: Swollen belly Chronic constipation Gas Failure to thrive Fatigue [mayoclinic.org]
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Asymptomatic
The possibilities of asymptomatic offspring or afflicted patients have not been excluded. [emedicine.medscape.com]
In a study of 75 autopsies, the median arcuate ligament crossed the celiac artery origin entirely (33%) or partially (48%) in a majority of individuals, resulting in significant celiac artery compression.1 Since 13-50% of healthy asymptomatic patients [rarediseases.org]
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Sepsis
Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient. Intern Med. 2018 Nov 1. 57 (21):3079-3085. [Medline]. [emedicine.medscape.com]
Gastrointestinal
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Failure to Thrive
[…] to thrive Fatigue Causes It's not clear what causes Hirschsprung's disease. [mayoclinic.org]
Workup
Biopsy
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Liver Biopsy
A liver biopsy may be done to confirm the diagnosis and determine whether cirrhosis has developed. When the vein remains completely blocked, most people, if untreated, die of liver failure within 3 years. [merckmanuals.com]
Treatment
Enterocolitis can be life-threatening and requires immediate treatment. [mayoclinic.org]
The longest-surviving patients were alive 15 and 17.5 years after successful surgical treatment. [emedicine.medscape.com]
Treatment of median arcuate ligament syndrome via traditional and robotic techniques. Hawaii J Med Public Health. 2013; 72: 279-81. 9. Joyce DD, Antiel RM, Oderich G, et al. [rarediseases.org]
Traditional surgical treatments for aortoiliac occlusive disease are aortoiliac endarterectomy (TEA) and aortobifemoral bypass (AFB). [ncbi.nlm.nih.gov]
Drugs (to dissolve or prevent blood clots) Procedures to improve blood flow Liver transplantation (in people with liver failure) Treatment depends on how rapidly the disorder developed and how severe it is. [merckmanuals.com]
Prognosis
The reported cases of infantile Cronkhite-Canada syndrome are scant ( 10). [15] Prognosis Cronkhite-Canada syndrome (CCS) is considered a relentlessly progressive disease with a variable course and poor prognosis depending mainly on control of protein [emedicine.medscape.com]
Etiology
The developmental etiology and pathogenesis of Hirschsprung disease. Translational Research. 2013;162:1. [mayoclinic.org]
This raises the question of whether infantile Cronkhite-Canada syndrome may be a sporadic condition. [15, 16] Etiology The pathogenesis of Cronkhite-Canada syndrome (CCS) is unknown. [emedicine.medscape.com]
Epidemiology
Epidemiology Frequency Cronkhite-Canada syndrome (CCS) has a worldwide distribution; over 500 cases have been reported. [21] The majority of these cases have been documented in Japan, including a large series of 180 patients. [22] Cronkhite-Canada syndrome [emedicine.medscape.com]
Pathophysiology
Canada as a new distinct clinical entity in two female patients with generalized gastrointestinal polyps, cutaneous pigmentation, alopecia, and onychodystrophy. [1] Pathophysiology The etiology of Cronkhite-Canada syndrome (CCS) is unknown. [emedicine.medscape.com]
Prevention
Fluid accumulation in the abdomen : A low-salt (sodium) diet and diuretics can help prevent too much fluid from accumulating in the abdomen. Most people need to take anticoagulants indefinitely to prevent new blockages from developing. [merckmanuals.com]
Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs [emedicine.medscape.com]