Symptomatic vitamin A deficiency in a paediatric patient with short bowel syndrome

Tatsuya Takahashi1, Itaru Hayakawa2, Tetsuya Ishimaru3

  • 1Division of Neurology, National Center for Child Health and Development, Setagaya, Japan takahashi-ta@ncchd.go.jp.

BMJ Case Reports
|December 31, 2025
PubMed

Insights

Vitamin A deficiency can cause xerophthalmia in children with short bowel syndrome (SBS), even with parenteral nutrition. Prompt intramuscular vitamin A treatment effectively resolves these severe ocular symptoms.

Area of Science:

  • Ophthalmology
  • Pediatrics
  • Gastroenterology

Background:

  • Vitamin A deficiency, leading to xerophthalmia, is uncommon in developed nations.
  • Malabsorption conditions, such as short bowel syndrome (SBS), can precipitate vitamin A deficiency.
  • Short bowel syndrome (SBS) often requires long-term parenteral nutrition support.

Purpose of the Study:

  • To report a case of symptomatic xerophthalmia in a pediatric patient with SBS.
  • To highlight the potential for vitamin A deficiency despite parenteral nutrition.
  • To emphasize the importance of regular ophthalmologic screening and prompt diagnosis.

Main Methods:

  • Case presentation of an early-adolescent male with hypoganglionosis-related SBS.
  • Clinical assessment including night blindness, conjunctival xerosis, and Bitot's spots.
  • Biochemical evaluation of serum retinol levels and intramuscular vitamin A administration.

Main Results:

  • The patient presented with severe vitamin A deficiency (serum retinol 4.2 µg/dL).
  • Ocular manifestations, including night blindness and xerosis, were observed.
  • Intramuscular high-dose vitamin A led to complete resolution of symptoms.

Conclusions:

  • Pediatric patients with SBS are at risk for symptomatic xerophthalmia, irrespective of nutritional support.
  • Regular ophthalmologic examinations are crucial for early detection of ocular abnormalities.
  • Intramuscular vitamin A is an effective therapeutic intervention for vitamin A deficiency secondary to malabsorption.

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