Rituximab therapy in ROHHAD(NET) syndrome
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Katherine A.C. Hawton
,
Rainer Doffinger
und
Julian P. Hamilton Shield
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.
Acknowledgments
Research undertaken by JHS is supported by the NIHR Biomedical Research Centre at University Hospitals Bristol and Weston NHS Foundation Trust and the University of Bristol. The views expressed by those authors and not necessarily those of the NIHR or the Department of Health and Social Care.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
References
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© 2022 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Article
- Effects of vitamin D supplementation on glycemic control of children and adolescents with type 1 diabetes mellitus: a systematic review
- Original Articles
- A preliminary study on the relationship between environmental endocrine disruptors and precocious puberty in girls
- Tissue concentration of aldosterone in fetal adrenals of intrauterine death cases
- Complications of orthopedic treatment in patients diagnosed with X-linked hypophosphatemic rickets
- Comparison of insulin sensitivity indices for detection of double diabetes in Indian adolescents with type 1 diabetes
- Evaluation of the growth and nutritional status of preschool children: a pilot study in the cold area of China
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- From pregnancy to breastfeeding: adequate maternal body mass index is essential to prevent a high body mass index in your children
- Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing
- The association between vitamin B12, folate, homocysteine levels, and carotid intima-media thickness in children with obesity: a cross-sectional study
- Comprehensive assessment of cardiovascular disease risk in children with short stature due to isolated growth hormone deficiency: a case-control study
- Visceral adiposity is related to insulin sensitivity and inflammation in adolescents with obesity and mild sleep disordered breathing
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- Case Reports
- Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant
- Rituximab therapy in ROHHAD(NET) syndrome
- Ectopic parathyroid hormone as a rare aetiology of hypercalcemia with rhabdomyosarcoma: a new treatment strategy with zoledronic acid and Denosumab
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Artikel in diesem Heft
- Frontmatter
- Review Article
- Effects of vitamin D supplementation on glycemic control of children and adolescents with type 1 diabetes mellitus: a systematic review
- Original Articles
- A preliminary study on the relationship between environmental endocrine disruptors and precocious puberty in girls
- Tissue concentration of aldosterone in fetal adrenals of intrauterine death cases
- Complications of orthopedic treatment in patients diagnosed with X-linked hypophosphatemic rickets
- Comparison of insulin sensitivity indices for detection of double diabetes in Indian adolescents with type 1 diabetes
- Evaluation of the growth and nutritional status of preschool children: a pilot study in the cold area of China
- Arterial hypertension is associated with an increased risk of metabolic complications in pediatric patient with obesity
- From pregnancy to breastfeeding: adequate maternal body mass index is essential to prevent a high body mass index in your children
- Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing
- The association between vitamin B12, folate, homocysteine levels, and carotid intima-media thickness in children with obesity: a cross-sectional study
- Comprehensive assessment of cardiovascular disease risk in children with short stature due to isolated growth hormone deficiency: a case-control study
- Visceral adiposity is related to insulin sensitivity and inflammation in adolescents with obesity and mild sleep disordered breathing
- Recurrent hypoglycemic seizure as a presenting symptom of post-TBI hypopituitarism in children: a case report, review and proposed protocol
- Evaluation of the etiological and clinical characteristics of pediatric central diabetes insipidus
- Case Reports
- Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant
- Rituximab therapy in ROHHAD(NET) syndrome
- Ectopic parathyroid hormone as a rare aetiology of hypercalcemia with rhabdomyosarcoma: a new treatment strategy with zoledronic acid and Denosumab
- A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree
