Rare Diseases Symptoms Automatic Extraction

Corneal ulceration due to vitamin A deficiency in Zellweger syndrome.

[zellweger syndrome]

We report a case of vitamin A deficiency and secondary corneal ulcer in an infant with Zellweger syndrome. A 7-month-old infant with failure to thrive and malnutrition developed a corneal ulcer. Fortified antibiotic eye drops were administered without improvement. Vitamin A deficiency was suspected and confirmed. Supplementation with oral vitamin A decreased corneal opacification. Zellweger syndrome was later diagnosed. Vitamin A deficiency should be considered in the differential diagnosis of nonhealing corneal ulcers in children, especially those with systemic syndromes and failure to thrive.

Diseases presenting "failure to thrive" symptom

  • 22q11.2 deletion syndrome
  • alexander disease
  • child syndrome
  • congenital diaphragmatic hernia
  • cystinuria
  • familial hypocalciuric hypercalcemia
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • omenn syndrome
  • papillon-lefèvre syndrome
  • pyruvate dehydrogenase deficiency
  • triple a syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated