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Case Reports
. 2022 Apr 26;35(8):1102-1106.
doi: 10.1515/jpem-2022-0085. Print 2022 Aug 26.

Rituximab therapy in ROHHAD(NET) syndrome

Katherine A C Hawton  1   2 , Rainer Doffinger  3 , Athimalaipet V Ramanan  1   2 , Simon C Langton Hewer  1   2 , Hazel J Evans  4 , Dinesh Giri  1   2 , Julian P Hamilton Shield  5
Affiliations
Case Reports

Rituximab therapy in ROHHAD(NET) syndrome

Katherine A C Hawton et al. J Pediatr Endocrinol Metab. .

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.

Keywords: ROHHAD; hypoventilation; obesity.

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References

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