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Case report: Dravet syndrome, feeding difficulties and gastrostomy

Lisa M Clayton1,2, Edwina Williams3, Simona Balestrini1,2,4

  • 1Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.

Frontiers in Neurology
|September 30, 2022
PubMed

Insights

Dravet syndrome (DS) patients can experience severe feeding difficulties and weight loss, impacting quality of life. This case highlights the need for attention to nutritional support in DS management.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy.
  • Approximately 90% of DS cases are linked to SCN1A gene variants.
  • Core DS features include infantile-onset seizures, drug resistance, and developmental delays.

Observation:

  • Feeding difficulties and weight loss are common yet underreported in DS.
  • This study details an adult DS patient with adolescent-onset reduced food/fluid intake.
  • The patient experienced significant weight loss and malnutrition, necessitating a percutaneous endoscopic gastrostomy.

Findings:

  • No specific underlying cause was identified for the feeding issues in the reported case.
  • The case illustrates a severe manifestation of feeding difficulties in DS.
  • Review of literature indicates feeding problems are a frequent concern for DS caregivers.

Implications:

  • Highlights the critical need to address feeding difficulties in Dravet syndrome.
  • Suggests proactive nutritional assessment and intervention are vital for DS patient care.
  • Emphasizes the impact of nutritional status on the quality of life for individuals with DS.

Keywords:
Dravet syndromeSCN1Aco-morbiditiesfeeding and swallowing troublegastrostomy (PEG)weight loss

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