Rituximab therapy in ROHHAD(NET) syndrome

Katherine A C Hawton, Rainer Doffinger, Athimalaipet V Ramanan, Simon C Langton Hewer, Hazel J Evans, Dinesh Giri, Julian P Hamilton Shield

Research output: Contribution to journalArticle (Academic Journal)peer-review

8 Citations (Scopus)

Abstract

OBJECTIVES: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neural-crest tumour (ROHHAD(NET)) is a rare syndrome presenting in early childhood associated with high morbidity and mortality. There is no specific diagnostic biomarker and diagnosis is based on clinical features. An autoimmune origin has been postulated.

CASE PRESENTATION: Management is largely supportive. We report a case of a five-year old female who presented in respiratory arrest after 6-months of rapid weight gain. She had central hypoventilation, central diabetes insipidus, growth hormone deficiency and hyperprolactinaemia. She displayed elevated interleukin-6 levels on cytokine serology which normalised after rituximab treatment. After rituximab treatment, her weight reduced significantly from greatly above the 99.6th to the 50th centile in 12 months.

CONCLUSIONS: This response possibly reflects an underlying, immune-inflammatory pathology driving excess adiposity in this condition. Potentially, other aspects of ROHHAD(NET) may be mediated through autoimmune dysregulation in which case rituximab may provide benefits for prognosis and survival.

Original languageEnglish
Pages (from-to)1102-1106
Number of pages5
JournalJournal of Pediatric Endocrinology & Metabolism
Volume35
Issue number8
DOIs
Publication statusPublished - 26 Aug 2022

Bibliographical note

© 2022 Walter de Gruyter GmbH, Berlin/Boston.

Keywords

  • Autonomic Nervous System Diseases
  • Child, Preschool
  • Female
  • Humans
  • Hypothalamic Diseases
  • Hypoventilation
  • Obesity
  • Rare Diseases
  • Rituximab/therapeutic use
  • Syndrome
  • Weight Gain

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