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Unusual presentation of more common disease/injury
CASE REPORT
Joubert syndrome with multiple pituitary hormone deficiency
  1. Nese Akcan1,
  2. Firdevs Bas2,
  3. Sukran Poyrazoglu2 and
  4. Ruveyde Bundak3
  1. 1 Pediatric Endocrinology, Near East University, Nicosia, Cyprus
  2. 2 Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
  3. 3 Department of Pediatric Endocrinology, University of Kyrenia, Kyrenia, Cyprus
  1. Correspondence to Dr Nese Akcan, dr.neseakcan{at}gmail.com

Abstract

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain–hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.

  • pituitary disorders
  • neuroendocrinology
  • neuroimaging

https://doi.org/10.1136/bcr-2018-229016

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    Footnotes

    • Contributors NA, FB, SP and RB: conception and design, acquisition of data or analysis and interpretation of data; drafting the article or revising it critically for important intellectual content. Final approval of the version published; agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Obtained.