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ArticleIndian journal of pediatrics2025

ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases.

Sukanya Priyadarshini, Avadhesh Verma, Praveen George Paul, Rajni Sharma, Vandana Jain

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Article in Indian journal of pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 citing paper in PubMed.

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5 · Who and what money

Authors and funding

5 authors.

Sukanya PriyadarshiniDivision of Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Avadhesh VermaDivision of Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Praveen George PaulDivision of Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Rajni SharmaDivision of Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Vandana JainDivision of Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. drvandanajain@aiims.edu.ORCID 0000-0002-6139-4686

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo present cases of rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and discuss management insights.

methodsCase records of patients fulfilling the criteria for ROHHAD and presenting to the Pediatric Endocrinology Division of All India Institute of Medical Sciences, New Delhi, between July 2019 and June 2024 were reviewed for clinical features, treatments, and outcomes.

resultsFive patients (4 boys, 1 girl) presented at a median age of 4 y (range 3.3-6) with rapidly progressive weight gain as the initial symptom. Autonomic dysregulation and hyperprolactinemia were present in all patients (100%). Sleep disturbances were noted in 4 patients (80%), respiratory support was required for 4 patients (80%), temperature instability in 3 (60%), dysnatremia in 3 (60%), pituitary hormone deficiencies in 3 (60%), behavioral issues in 2 (40%), and neuroectodermal tumor (NET) in 1 patient (20%). Treatment included IVIg for 3 patients with no improvement, home BiPAP support for 1 patient, and unilateral adrenalectomy for a ganglioneuroma in another. Four (80%) patients died during follow-up (mean age at death 5 y); 1 due to sudden cardiorespiratory arrest, and 3 from respiratory tract infections.

conclusionsROHHAD management requires a multimodal approach, addressing pituitary hormone deficiencies, autonomic dysregulation, and screening for hypoventilation and NETs. Emphasis should be on early home respiratory support and monitoring for cardiac rhythm disturbances. Further studies are needed to evaluate the efficacy of immunomodulatory agents.

Indexed as

Autonomic Nervous System DiseasesHypothalamic DiseasesHypoventilationChildChild, PreschoolFemaleHumansIndiaMaleRetrospective StudiesAutonomic dysregulationHypothalamic dysfunctionHypothalamic obesityHypoventilationRapid onset obesity

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.