Elsevier

The Lancet

Volume 346, Issue 8985, 11 November 1995, Page 1298
The Lancet

Letters to the Editor
Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome?

https://doi.org/10.1016/S0140-6736(95)91899-XGet rights and content

References (2)

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  • Pg Fisher et al.

    Anti-Hu antibody in a neuroblastoma—associated paraneoplastic syndrome

    Pediatr Neurol

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    Additionally, involvement of adjacent nuclei, such as the oculomotor nuclear complex, must also be necessary to explain all the ROHHAD manifestations. The presence of NCTs and encephalitis affecting discrete brain regions has raised the possibility that ROHHAD is the result of a paraneoplastic process, drawing parallels to pediatric opsoclonus-myoclonus syndrome (OMS), a paraneoplastic neurologic syndrome with a cerebellar phenotype (North et al., 1994; Ouvrier et al., 1995; Sartori et al., 2014; Giacomozzi et al., 2019). OMS is a complication for 2%–3% of children with NCTs and approximately half of cases have an identified tumor, although the actual incidence is likely higher due to limits in detecting small tumors.

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    The same 50% tumor frequency is also typical of OMS, but the pattern of tumor types is the opposite of that in OMS, in which neuroblastoma predominates at all ages and ganglioneuroma has the lowest frequency.8 In patients manifesting these tumors at least, ROHHAD has been proposed to be a PNS.9-12 The cases without a demonstrated tumor have caused some to challenge this view, finding ROHHAD has been misdiagnosed in some cases, and genetic testing has revealed other obesity or hypoventilation syndromes.13

  • Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD

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    In the absence of a clear understanding of the etiology of the disease, or of a definitive diagnostic marker, a ROHHAD diagnosis is often delayed or missed, potentially leading to worsening hypoventilation, impaired neurocognitive development, and even cardiorespiratory arrest. Multiple theories about the pathological mechanisms of ROHHAD have been proposed, including that it is an autoimmune disease (Chow et al., 2015; Sartori et al., 2014); that it is a paraneoplastic condition (Ouvrier et al., 1995; Paz-Priel et al., 2011; Sirvent et al., 2003); and, as ROHHAD shares some features of other genetic neurocristopathies, such as Congenital Central Hypoventilation Syndrome (CCHS) (Weese-Mayer et al., 2010), that there is a genetic basis (De Pontual et al., 2008; Ize-Ludlow et al., 2007; Rand et al., 2011). Several studies have attempted to identify genetic mutations causing ROHHAD, either using a candidate gene approach (De Pontual et al., 2008; Ize-Ludlow et al., 2007; Rand et al., 2011) or whole exome sequencing (Barclay et al., 2015; Thaker et al., 2015), but a clear answer remains elusive.

  • Hypoventilation syndromes of infancy, childhood, and adulthood: Congenital central hypoventilation syndrome (CCHS), later-onset CCHS, and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation

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    While significant advancements have been made in understanding the clinical presentation of the disorder, the etiology and pathogenesis of ROHHAD remain unknown. One current hypothesis that has been explored is an autoimmune or paraneoplastic basis for ROHHAD.33–35 However, such investigation has been limited to a handful of patients at varied stages of an evolving phenotype, making it difficult to determine the specific effect of the intervention.

  • Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)

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