Related Experiment Video

Updated: Feb 17, 2026

Adapting Human Videofluoroscopic Swallow Study Methods to Detect and Characterize Dysphagia in Murine Disease Models
08:32

Adapting Human Videofluoroscopic Swallow Study Methods to Detect and Characterize Dysphagia in Murine Disease Models

Published on: March 1, 2015

22.1K

An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty

Jae-Gun Moon1, Min-A Shin1, Hannah Pyo1

  • 1Department of Rehabilitation Medicine, National Rehabilitation Center, Seoul, Korea.

Annals of Rehabilitation Medicine
|December 5, 2017
PubMed

Insights

Sandhoff disease, a rare genetic disorder, presents in infants with motor skill loss and seizures. This case highlights rapid nutritional decline in a child with Sandhoff disease due to swallowing difficulties.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Sandhoff disease is a rare neurodegenerative lysosomal storage disorder.
  • Infants typically appear normal until 3-6 months, then develop progressive neurological symptoms.

Purpose of the Study:

  • To report a rare case of Sandhoff disease in a 22-month-old girl.
  • To describe the challenges of dysphagia and nutritional decline in this patient.
  • To review the literature on Sandhoff disease management.

Main Methods:

  • Case report of a 22-month-old female with Sandhoff disease.
  • Clinical observation of motor weakness, dysphagia, and aspiration.
  • Assessment of nutritional status and feeding difficulties.

Main Results:

  • The patient presented with progressive motor weakness and dysphagia at 20 months.
  • Oromotor dysfunction and abnormal feeding posture complicated swallowing.
  • Rapid decrease in food intake and nutritional status deterioration occurred within 3 months.

Conclusions:

  • Dysphagia significantly impacts nutritional status in Sandhoff disease.
  • Early identification and management of feeding issues are crucial.
  • This case underscores the challenges in managing advanced Sandhoff disease.

Keywords:
DysphagiaNutritional statusSandhoff disease

More Related Videos

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection02:22

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection

Published on: April 12, 2024

1.0K
Minimally Invasive Murine Laryngoscopy for Close-Up Imaging of Laryngeal Motion During Breathing and Swallowing07:45

Minimally Invasive Murine Laryngoscopy for Close-Up Imaging of Laryngeal Motion During Breathing and Swallowing

Published on: December 1, 2023

1.1K

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.6K
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
27.6K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
931
Enteral Nutrition I: Orogastric and Nasogastric Feeding01:26

Enteral Nutrition I: Orogastric and Nasogastric Feeding

Enteral nutrition delivers nutrients directly to the stomach or small intestine through a tube. This method is appropriate for patients who cannot eat but still have a functioning digestive system. It is also beneficial for individuals with swallowing difficulties, anorexia, malabsorption, or those who have undergone gastrointestinal (GI) surgery.
Orogastric (OG) and nasogastric (NG) feeding are two standard methods used for enteral nutrition. Enteral nutrition is often preferred over...
1.7K
Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
1.2K
Esophageal Strictures-II: Clinical Features and Management01:26

Esophageal Strictures-II: Clinical Features and Management

Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
718