Journal Article

Joubert syndrome with multiple pituitary hormone deficiency

Poyrazoglu, Sukran, Akcan, Nese, Bas, Firdevs, Bundak, Ruveyde

2019

Overview

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.

• Publisher: BMJ Publishing Group LTD,BMJ Publishing Group
• Subject: Abnormalities, Multiple - diagnosis / Abnormalities, Multiple - drug therapy / Abnormalities, Multiple - etiology / Abnormalities, Multiple - genetics / Aftercare / Body mass index / Brain - diagnostic imaging / Case reports / Cerebellum - abnormalities / Congenital diseases / Developmental Disabilities - diagnosis / Developmental Disabilities - etiology / Developmental Disabilities - genetics / Diagnosis, Differential / Eye Abnormalities - complications / Eye Abnormalities - diagnosis / Eye Abnormalities - drug therapy / Genes / Genital Diseases, Male - diagnosis / Genital Diseases, Male - etiology / Growth hormones / 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 / Medical imaging / Mutation / Neuroimaging / Patients / Penis - abnormalities / Pituitary gland / Pituitary Hormones - deficiency / Pituitary Hormones - metabolism / Retina - abnormalities / Steroids - administration & dosage / Steroids - therapeutic use / Testosterone / Thyroid gland / Treatment Outcome / Unusual Presentation of More Common Disease/Injury