Endocrinopathies in paediatric-onset neuromyelitis optica spectrum disorder with aquaporin 4 (AQP4) antibody

Abstract

The involvement of the diencephalic regions in neuromyelitis optica spectrum disorder (NMOSD) may lead to endocrinopathies. In this study we identified the following endocrinopathies in 60%(15/25) of young people with paediatric-onset AQP4-Ab NMOSD: morbid obesity (n=8), hyperinsulinaemia (n=5), hyperandrogenism (n=5), amenorrhoea (n=5), hyponatraemia (n=4), short stature (n=3) and central hypothyroidism (n=2) irrespective of hypothalamic lesions. Morbid obesity was seen in 88%(7/8) of children of Caribbean origin. As endocrinopathies, were prevalent in the majority of paediatric-onset AQP4-Ab NMOSD, endocrine surveillance and in particular early aggressive weight management is required for patients with AQP4-Ab NMOSD.. 3

Pediatric Acquired Demyelinating Disorders

“…No therapies are currently FDA approved for use in children with NMOSD. Retrospective studies have shown benefit with mycophenolate mofetil (titrated over 3 to 4 weeks to goal dosing of 600 mg/m 2 2 times a day, maximum of 1 g 2 times a day), 73 azathioprine (2 mg/kg/d to 3 mg/kg/d), 78 and rituximab (dosed as noted in table 6-2 ), 74,75 and a small case series supports the use of tocilizumab (8 mg/kg every 4 weeks, maximum of 800 mg per dose) 79 . The author typically avoids azathioprine in children given its higher risk of intolerable side effects.…”

“…When the area postrema is involved, hiccups and/or intractable vomiting may be part of the initial manifestations 18 . Given that the diencephalon can be affected, more than half of all children with NMOSD may exhibit evidence of endocrinopathies, including hyponatremia, morbid obesity, amenorrhea, and hyperinsulinism 74 . Pediatric NMOSD can coexist with systemic autoimmune disorders, such as systemic lupus erythematosus, Sjögren syndrome, and Graves disease.…”

Hyponatremia in neuromyelitis optica spectrum disorders: Literature review

“…viewed all previously reported studies of hyponatremia in patients with AQP4 antibody-positive/negative NMOSDs via a search of PubMed between 2005 and 2017 [3][4][5][6][7][8][9][10][11][12][13][14][15][16]. We obtained 14 studies that had reported on 28 patients with AQP4 antibodies-positive (n = 27)/ negative (n = 1) NMOSDs with hyponatremia, including 10 case reports and 4 retrospective studies.Table 1presents clinical and laboratory characteristics of the studies.…”

“…Time course of serum sodium levels and urine volumesEstablishing an accurate diagnosis is particularly important because the treatment for each condition is quite different.To discuss the diagnosis and pathophysiological mechanisms underlying various types of hyponatremia in NMOSDs, we reviewed all previously reported studies of hyponatremia in patients with AQP4 antibody-positive/negative NMOSDs via a search of PubMed between 2005 and 2017 [3][4][5][6][7][8][9][10][11][12][13][14][15][16]. We obtained 14 studies that In our two patients, hyponatremia developed at the initial or early stage of their first attack.…”