Related Experiment Video
Updated: May 30, 2026
07:51
A Novel Approach to Monitoring Graft Neovascularization in the Human Gingiva
Published on: January 12, 2019
Gingival overgrowth in Pompe disease: a case report
J Pieter de Gijt1, Carine I van Capelle, J Wolter Oosterhuis
1Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands.
Summary
Enzyme replacement therapy (ERT) has improved survival for Pompe disease. This case report details an 8-year-old patient, highlighting that glycogen storage may not directly cause gingival overgrowth in Pompe disease.
Area of Science:
- Metabolic disorders
- Genetics
- Rare diseases
Background:
- Pompe disease (glycogen storage disease type 2) is a rare inherited metabolic disorder.
- It results from acid α-glucosidase deficiency, leading to glycogen accumulation.
- Infantile Pompe disease is severe, often fatal within the first year without treatment.
Purpose of the Study:
- To report a case of a long-term survivor with infantile Pompe disease on enzyme replacement therapy (ERT).
- To investigate the cause of massive gingival overgrowth in this patient.
- To explore the relationship between glycogen accumulation and gingival overgrowth in Pompe disease.
Main Methods:
- Case report of an 8-year-old female patient with infantile Pompe disease.
- Surgical reduction of gingival overgrowth.
- Histopathological examination of gingival tissue.
Main Results:
- The patient survived for 8 years on ERT, presenting with tetraplegia and massive gingival overgrowth.
- Histopathology revealed glycogen accumulation in arterial smooth muscle cells but not significantly in fibroblasts.
- Immature collagen and mild chronic inflammation were observed in the gingival connective tissue.
Conclusions:
- Glycogen storage is unlikely to be the sole direct cause of gingival overgrowth in this Pompe disease patient.
- Chronic inflammation, gingival dryness, or minor fibroblast glycogen accumulation may contribute to gingival overgrowth.
- This case highlights complex manifestations in long-term Pompe disease survivors on ERT.
Related Concept Videos
01:26Methods of Documentation II: POMR
The Problem-Oriented Medical Record (POMR) revolutionized medical record-keeping by introducing a systematic approach focusing on the patient's problems rather than merely listing symptoms. Dr. Lawrence Weed's introduction of this method in the 1960s marked a significant advancement in medical documentation. The POMR framework consists of four key components: the database, problem list, plan of care, and progress notes.
01:25Peptic Ulcer Disease III: Clinical Manifestations and Complications
Duodenal UlcersDuodenal ulcers are the most common form of peptic ulcer disease, presenting with chronic, intermittent epigastric pain. Pain typically appears 2–3 hours after meals, especially when the stomach is empty, often waking patients at night. It is characteristically relieved by food or antacids (“pain–food–relief”). Some patients remain asymptomatic until complications like bleeding or perforation emerge, particularly with NSAID or anticoagulant use.Gastric UlcersGastric ulcers share...
01:28Peptic 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.
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.
01:25Peptic 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...
01:30Peptic 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...
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...
01:29Chronic Pancreatitis II: Collaborative Care
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment: