Joubert syndrome with multiple pituitary hormone deficiency

BMJ Case Rep. 2019 Apr 23;12(4):e229016. doi: 10.1136/bcr-2018-229016.

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.

Keywords: neuroendocrinology; neuroimaging; pituitary disorders.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / drug therapy
  • Abnormalities, Multiple / etiology
  • Abnormalities, Multiple / genetics
  • Aftercare
  • Brain / diagnostic imaging
  • Cerebellum / abnormalities*
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / etiology
  • Developmental Disabilities / genetics
  • Diagnosis, Differential
  • Eye Abnormalities / complications*
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / drug therapy
  • Genital Diseases, Male / diagnosis
  • Genital Diseases, Male / etiology
  • Hormone Replacement Therapy / methods*
  • Humans
  • Hypoglycemia / diagnosis
  • Hypoglycemia / etiology
  • Infant, Newborn
  • Kidney Diseases, Cystic / complications*
  • Kidney Diseases, Cystic / diagnosis
  • Kidney Diseases, Cystic / drug therapy
  • Magnetic Resonance Imaging
  • Male
  • Penis / abnormalities
  • Pituitary Hormones / deficiency*
  • Pituitary Hormones / metabolism
  • Retina / abnormalities*
  • Steroids / administration & dosage
  • Steroids / therapeutic use
  • Treatment Outcome

Substances

  • Pituitary Hormones
  • Steroids

Supplementary concepts

  • Agenesis of Cerebellar Vermis
  • Penis agenesis