Pearls &amp; Oy-sters: Anorexia and emaciation in patients with cerebellar hemangioblastoma

Oya, Soichi; Nejo, Takahide; Indo, Masahiro; Matsui, Toru

doi:10.1212/wnl.0000000000000835

Cited by 6 publications

(8 citation statements)

References 10 publications

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“…Moreover, either HB or VHLs are not listed among the differential diagnoses of patients with anorexia. A total of 8 cases of posterior fossa HBs causing anorexia were found in the English literature, of which 3 were associated with VHLs (7,8,(15)(16)(17)(18). Of the 8 cases, 6 had an excellent recovery from anorexia within a few months after surgery.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with this genetic disease may develop tumors of the viscera and CNS (5,6). When anorexia presents without other symptoms, anorexia nervosa (AN) emerges as the most likely diagnosis, particularly in young and previously healthy women (7,8). This may lead to a misdiagnosis of AN and delay the correct diagnosis, compromising prognosis and appropriate treatment.…”

Section: Introductionmentioning

confidence: 99%

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Anorexia as the first clinical manifestation of von Hippel‑Lindau syndrome

et al. 2020

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Hemangioblastomas (HBs) of the brain may present without neurological symptoms over a long period of time due to their benignity and slow growth. We herein present the case of a female patient who developed a HB of the fourth ventricle presenting only with severe weight loss and anorexia. The patient was screened for mutations in all 3 exons of the VHL gene using Sanger sequencing, and was found to have a nonsense mutation in the VHL gene (single-nucleotide change causing a premature stop codon: c.481C>T; p.Arg161*), causing formation of a truncated protein, consistent with von Hippel-Lindau syndrome (VHLs). The patient was first misdiagnosed with anorexia nervosa (AN) due to the lack of other symptoms. Molecular diagnosis allows further investigation of other VHLs-related tumors and timely, appropriate treatment. However, misdiagnosing anorexia nervosa may lead to poor prognosis and even death; thus, differential diagnosis is crucial in all such cases. The present case report provides evidence that fourth ventricular lesions may affect food intake control and satiety, and highlights the importance of accurate molecular diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Anorexia as the first clinical manifestation of von Hippel‑Lindau syndrome

et al. 2020

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“…Findings from loss-of-function studies strengthen the theorised relationship between abnormal cerebellar structure and dysregulation of appetite. Clinical reports and lesion studies of the cerebellum show reports of reduced appetite and AN in both humans and rats [62][63][64][65][66] .…”

Section: -The Cerebellum: Volumetric Studies Of Over-and Undereatingmentioning

confidence: 99%

“…In a study by Colombel et al (2002) 63 , cerebellectomised rats experienced a high mortality rate with 91.7% of deaths post-surgery due to starvation. In humans, Oya et al (2014) 65 reports a high proportion of cerebellar tumour detection with associated AN. Similarly, cerebellar degeneration associated with ataxia correlates with increased likelihood of being underweight or experiencing abnormal appetite patterns [66][67][68][69] .…”

Section: -The Cerebellum: Volumetric Studies Of Over-and Undereatingmentioning

confidence: 99%

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The Cerebellum Plays More Than One Role in the Dysregulation of Appetite: Review of Structural Evidence from Typical and Eating Disorder Populations

Sader

Waiter

Williams

2022

Preprint

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BackgroundDysregulated appetite control is characteristic of anorexia nervosa (AN) and obesity (OB). Studies using a broad range of methods suggest the cerebellum plays an important role in appetite control, and it is implicated in both AN and OB with reports of aberrant grey matter volume (GMV) compared to non-clinical populations. As functions of the cerebellum are anatomically segregated, specific localization of aberrant anatomy may indicate how it affects appetite control in different states.ObjectiveTo determine if there were consistencies in regions of cerebellar GMV changes affected in AN and OB, and across normative variation.Methodsystematic review and meta-analysis using Ginger ALE.ResultsTwenty publications were identified as either case-control studies (with total n=619) or regressed weight from normative data against brain volume (with total n=3,518). AN and OB analyses both showed consistently decreased GMV within the left cerebellum, but volume reduction was anterior for AN and posterior for OB, with minimal overlap. Analysis of the normative dataset identified a cluster in right posterior lobe.DiscussionThese findings suggest that more than one area of the cerebellum is involved in control of eating behaviour and is differentially affected in normal variation and pathological conditions. Specifically, we hypothesise an association with sensorimotor and emotional learning in AN, but with executive function in OB.

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The cerebellum plays more than one role in the dysregulation of appetite: Review of structural evidence from typical and eating disorder populations

Sader,

Waiter,

Williams

2023

Brain and Behavior

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ObjectiveDysregulated appetite control is characteristic of anorexia nervosa (AN), bulimia nervosa (BN), and obesity (OB). Studies using a broad range of methods suggest the cerebellum plays an important role in aspects of weight and appetite control, and is implicated in both AN and OB by reports of aberrant gray matter volume (GMV) compared to nonclinical populations. As functions of the cerebellum are anatomically segregated, specific localization of aberrant anatomy may indicate the mechanisms of its relationship with weight and appetite in different states. We sought to determine if there were consistencies in regions of cerebellar GMV changes in AN/BN and OB, as well as across normative (NOR) variation.MethodSystematic review and meta‐analysis using GingerALE.ResultsTwenty‐six publications were identified as either case–control studies (nOB = 277; nAN/BN = 510) or regressed weight from NOR data against brain volume (total n = 3830). AN/BN and OB analyses both showed consistently decreased GMV within Crus I and Lobule VI, but volume reduction was bilateral for AN/BN and unilateral for OB. Analysis of the NOR data set identified a cluster in right posterior lobe that overlapped with AN/BN cerebellar reduction. Sensitivity analyses indicated robust repeatability for NOR and AN/BN cohorts, but found OB‐specific heterogeneity.DiscussionFindings suggest that more than one area of the cerebellum is involved in control of eating behavior and may be differentially affected in normal variation and pathological conditions. Specifically, we hypothesize an association with sensorimotor and emotional learning via Lobule VI in AN/BN, and executive function via Crus I in OB.

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Pearls & Oy-sters: Anorexia and emaciation in patients with cerebellar hemangioblastoma

Cited by 6 publications

References 10 publications

Anorexia as the first clinical manifestation of von Hippel‑Lindau syndrome

Anorexia as the first clinical manifestation of von Hippel‑Lindau syndrome

The Cerebellum Plays More Than One Role in the Dysregulation of Appetite: Review of Structural Evidence from Typical and Eating Disorder Populations

The cerebellum plays more than one role in the dysregulation of appetite: Review of structural evidence from typical and eating disorder populations

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