Related Experiment Videos

Homocystinuria with lower gastrointestinal bleeding: first case report

Mohammad Al Humaidan1, Ibrahim Al Sharkawy, Abdullah Al Sanae

  • 1Department of Pediatrics, AlSabah Hospital, Kuwait City, Kuwait.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre
|December 22, 2012
PubMed

Insights

Homocystinuria can cause rare lower gastrointestinal bleeding and intestinal thrombosis in children. Maintaining treatment compliance is crucial to prevent severe vascular complications like bowel ischemia.

Area of Science:

  • Pediatric Gastroenterology
  • Vascular Medicine
  • Metabolic Disorders

Background:

  • Homocystinuria is a rare inherited metabolic disorder.
  • It is associated with an increased risk of thromboembolic events.
  • Poor compliance with treatment can exacerbate these risks.

Observation:

  • A 7-year-old boy with homocystinuria presented with abdominal pain and bloody stools.
  • Doppler ultrasound revealed superior mesenteric and middle colic vein thrombosis.
  • Laparotomy confirmed ischemic small bowel requiring resection.

Findings:

  • Surgical resection of ischemic bowel led to clinical improvement.
  • Anticoagulation therapy combined with homocystinuria treatment was initiated.
  • The patient was discharged in stable condition.

Implications:

  • Highlights the critical need for vigilance regarding thromboembolism in homocystinuria patients with gastrointestinal bleeding.
  • Emphasizes the importance of strict treatment adherence to prevent vascular complications.
  • Underscores the potential for severe outcomes, including intestinal ischemia, in poorly managed homocystinuria.
Abstract

Related Concept Videos

Gastritis III: Clinical Manifestations and Management01:23

Gastritis III: Clinical Manifestations and Management

The clinical manifestations of gastritis can vary depending on the cause and type of gastritis, but some common symptoms may include the following.
Clinical manifestations of acute gastritis
The patient with acute gastritis may have a rapid onset of symptoms, such as epigastric pain or discomfort, dyspepsia, anorexia, hiccups, or nausea and vomiting, which can last from a few hours to a few days. Erosive or hemorrhagic gastritis may cause bleeding, which may manifest as blood in vomit or as...
Esophageal Varices-II: Clinical Features and Management01:28

Esophageal Varices-II: Clinical Features and Management

Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol abuse, or...
Peptic Ulcer Disease I: Introduction01:30

Peptic Ulcer Disease I: Introduction

Peptic Ulcer Disease (PUD) is characterized by mucosal excavation in the esophagus, stomach, pylorus, or duodenum. It can manifest as acute or chronic based on the extent and duration of mucosal involvement.
An acute ulcer, marked by superficial erosion and minimal inflammation, swiftly resolves upon identifying and addressing the underlying cause. In contrast, a chronic ulcer persists, potentially eroding through the muscular wall and forming fibrous tissue.
Peptic ulcers can also be...
Peptic Ulcer Disease I: Introduction01:25

Peptic Ulcer Disease I: Introduction

Peptic ulcer disease (PUD) involves breaks in the gastrointestinal tract's mucosal lining, primarily in the stomach and duodenum, with less frequent occurrences in the lower esophagus or near the pylorus.Ulcers can be acute or chronic. Acute ulcers are short-lived with minimal inflammation and heal quickly after the irritant is removed. Chronic ulcers persist, may recur, and often cause scarring due to ongoing tissue damage. Superficial erosions affect only the mucosal layer and are called...
Peptic Ulcer01:27

Peptic Ulcer

Peptic ulcers are erosive lesions of the gastric or duodenal lining, most commonly caused by Helicobacter pylori infection. This Gram-negative, helical bacterium has adapted to survive the stomach’s acidic environment by producing urease, which converts urea into ammonia and carbon dioxide. The ammonia neutralizes gastric acid in the bacterium’s immediate environment, allowing colonization of the gastric mucosa. H. pylori attaches to mucus-secreting epithelial cells, penetrates the mucus...
Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies01:28

Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies

Peptic ulcer disease (PUD) presents with diverse symptoms depending on the location and severity of the ulcer. Clinical manifestations of peptic ulcer include dull pain and a burning sensation in the mid-epigastric region.
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.