Neurosarcoidosis presenting with hypopituitarism.

Hypothalamo-pituitary sarcoidosis is a rare manifestation of sarcoidosis, usually presenting alongside other symptoms of neurosarcoidosis. We describe the case of a 58-year-old man from Ghana who presented with progressive gait disturbance, cognitive dysfunction, hypothermia and bradycardia. He was found to have pituitary stalk thickening on imaging, and lymph node biopsy identified non-caseating granulomatous disease. Serology revealed gonadotropin deficiency, hypothyroidism and central adrenal insufficiency. Treatment with immunomodulatory therapy resulted in resolution of findings on imaging and improved cognition, though pituitary function never recovered. Treatment for his sarcoidosis unfortunately resulted in recurrent infections and avascular necrosis. Work-up, management and ongoing care required multidisciplinary cooperation between the admitting internal medicine team, infectious diseases, respirology, rheumatology, endocrinology and neurology.

Health-related quality of life in children with inflammatory brain disease.

OBJECTIVE: To quantify the impact of inflammatory brain diseases in the pediatric population on health-related quality of life, including the subdomains of physical, emotional, school and social functioning. METHODS: This was a multicenter, observational cohort study of children (< 18 years of age) diagnosed with inflammatory brain disease (IBrainD). Patients were included if they had completed at least one Health Related Quality of Life Questionnaire (HRQoL). HRQoL was measured using the Pediatric Quality of Life Inventory Version 4.0 (PedsQL) Generic Core Scales, which provided a total score out of 100. Analyses of trends were performed using linear regression models adjusted for repeated measures over time. RESULTS: In this study, 145 patients were included of which 80 (55%) were females. Cognitive dysfunction was the most common presenting symptoms (63%), and small vessel childhood primary angiitis of the CNS was the most common diagnosis (33%). The mean child's self-reported PedsQL total score at diagnosis was 68.4, and the mean parent's proxy-reported PedsQL score was 63.4 at diagnosis. Child's self-reported PedsQL scores reflected poor HRQoL in 52.9% of patients at diagnosis. Seizures or cognitive dysfunction at presentation was associated with statistically significant deficits in HRQoL. CONCLUSION: Pediatric IBrainD is associated with significantly diminished health-related quality of life. Future research should elucidate why these deficits occur and interventions should focus on improving HRQoL in the most affected subdomains, in particular for children presenting with seizures and cognitive dysfunction.