Complete agenesis of major salivary glands

Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1782-5. doi: 10.1016/j.ijporl.2013.07.025. Epub 2013 Aug 28.

Abstract

A 4 year-old female patient was treated for persistent right-sided dacryocystitis and xerostomia. MRI was performed to screen for a dry syndrome; which resulted in the diagnosis of agenesis of the parotid and submandibular glands as well as lacrimal duct malformation. An MRI of each parent was normal. The mother's history revealed 4 days of pyrexia during the 8th week of amenorrhea. This was an isolated case, with no family history, characterized by a febrile episode during pregnancy at the period of main salivary gland genesis. Epigenetic mechanisms could be implicated.

Keywords: ALSG (aplasia of lacrimal and salivary glands); LADD (lacrimo-auriculo-dento-digital syndrome); Nasolacrimal duct agenesis; Salivary glands; Xerostomia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Biopsy, Needle
  • Child, Preschool
  • Dacryocystitis / diagnosis
  • Dacryocystitis / etiology
  • Female
  • Humans
  • Immunohistochemistry
  • Lacrimal Apparatus / abnormalities*
  • Lacrimal Apparatus / parasitology
  • Magnetic Resonance Imaging / methods
  • Parotid Gland / abnormalities*
  • Parotid Gland / pathology
  • Rare Diseases
  • Submandibular Gland / abnormalities*
  • Submandibular Gland / pathology
  • Xerostomia / diagnosis
  • Xerostomia / etiology