Avoidant/restrictive food intake disorder-like syndrome and cerebellar tumor in an adolescent: a case report (2025)

Abstract

Background

Avoidant/Restrictive Food Intake Disorder (ARFID) was introduced as a specific diagnosis in the DSM-5 classification of feeding and eating disorder (ED) and more recently in the ICD-11 [1, 2]. ARFID, which replaces and enhances the “feeding disorder of infancy and early childhood” category, is a heterogeneous disorder that does not only affect children. On neuroimaging, patients with ARFID would have lower subcortical surface areas and volumes than their peers without ED [3]. Associations between EDs and central nervous system (CNS) tumors involving several cerebral areas have been documented [4]. Clinical presentation of ED seems to differ depending on the histological type and/or the position of the cerebral tumor. Anorexia Nervosa (AN) appears to be more common in low-grade gliomas and in pilocytic astrocytomas, whereas hyperphagia is more frequently observed in craniopharyngiomas. It is currently established that hypothalamic lesions can influence eating behaviors, with a loss or increase of appetite [5]. Lesions of the brainstem seem to be associated with a symptomatology of food restriction and with the presence of vomiting by direct stimulation of the vomiting center located in the brainstem [4]. To date, there are no studies reporting association between EDs and cerebellar lesions despite the involvement of the cerebellum on body perception and self-image, as well as its regulation of autonomic functions that impact eating behaviors [6]. We reported the case of a 13-year-old boy with a clinical course suggestive of ARFID and a massive cerebellum tumor.

Case presentation

Discussion

The diagnosis of ARFID was initially made because the patient had been suffering from marked food restriction and selectivity for several years, with an inability to maintain his daily requirements for age, and without specific diagnostic criteria for AN [1]. There were possibly three years between the onset of symptoms and our first medical assessment. Although this may seem a long time, patients with ARFID have a longer duration of illness before diagnosis than other EDs (12 to 33 months in ARFID versus 8 to 23 months in other EDs) [7]. Chronic eating difficulties had a significant impact on the patient’s growth, with a drop-off in height and weight chart patterns. Patients with ARFID may present with gastrointestinal symptoms primarily involving abdominal complaints, attributed to slowed transit or a sensation of fullness and early satiety resulting from delayed gastric emptying as a consequence of malnutrition [8]. The severity and overall description of the abdominal pain experienced by our patient were not typical of the gastrointestinal symptoms usually seen in this ED. ARFID patients may limit their food intake due to fear of aversive consequences, a lack of interest in eating, or sensory preoccupations [9]. Adolescents with the ARFID class characterized by fear of aversive consequences often have normal eating habits before the onset of the disease. Their growth before the eating difficulties was regular, then deteriorates with the ED [10]. Before the brain MRI results, we were confronted with a clinical presentation compatible with a diagnosis of ARFID, more specially fear of aversive reaction subtype [9]. However, we were intrigued by the intense abdominal pain and altered handwriting mentioned by the parents. We therefore decided to perform brain MRI because of these unusual features in ARFID and the severe growth retardation. The scientific literature has already noted cases of ED leading to the discovery of neurological tumors [11]. ED type seems to differ depending on the histological type and/or the position of cerebral tumor. Each histologic type of tumor preferentially affects a specific area of the CNS (hypothalamic-pituitary system, brain, brainstem, or cerebellum). It is not known whether it is the histological type or the location of the tumor that gives rise to the variety of ED presentation. AN seems more common in low-grade gliomas and in pilocytic astrocytoma. Hyperphagia seems to be more frequent in craniopharyngiomas [5]. It is currently established that hypothalamic lesions can influence eating behavior, with a loss or increase in appetite [5]. Lesions of the brainstem seem to be associated with a symptomatology of food restriction and with the presence of vomiting by direct stimulation of the vomiting center located in the brain stem [4]. As for hemispheric lesions, studies show that tumors of the right frontal lobe are more often associated with typical AN symptomatology, although no causal link has yet been established [4, 11]. The presence of new elements in our case with the discovery of the cerebellar tumor, strongly suggests a neurological origin for the altered eating behaviors, mimicking an ARFID presentation. However, the dramatic post-operative improvement raises questions about whether this change is primarily due to the relief of intracranial hypertension (HTIC) or to the restoration of disrupted connectivity between the cerebellum and other brain regions. In either case, neurosurgery appears to have played a crucial role in reestablishing certain functional cerebellar connections, which likely contributed to the resolution of both the eating behaviors and other associated symptoms [6, 12]. Grade 1 gangliogliomas account for 1–5% of pediatric CNS tumors. Most of these gangliogliomas are found in the cortex, mainly in the temporal lobe (> 70%), although they can also appear in the posterior fossa as was the case in our patient [13]. The BRAF V600E mutation present in our patient is common in this type of tumor, accounting for around 50% of cases [13]. There are no cases in the literature describing EDs in the context of a BRAF V600E mutation and any association with dental agenesis of the incisors [14]. The control of food intake and eating behaviors is based on a complex network of neuro-anatomical and neuro-endocrine structures located mainly in the nuclei of the lateral and ventromedial hypothalamus [15]. Although the cerebellar area does not appear to be classically involved in regulating food intake, this highly sophisticated behavioral process is not yet fully understood. Recent studies have reported altered connectivity network encompassing cerebellum in patients with EDs compared to healthy subjects [10, 11]. The cerebellum plays a crucial role in regulating emotional responses and is interconnected with various brain regions involved in emotional processing, visceral sensations and in the autonomic system. Hyperconnectivity between the cerebellum and the anterior cingulate cortex in people with EDs has been associated with poor emotional regulation and impulsive behavior [6]. This could have an impact on the ability to manage responses related to visceral sensations and emotional processing. Connectivity deficits into the flocculonodular lobe, which is primarily connected to the sensorimotor cortices, have been reported. These data highlight the complex involvement of the cerebellum, not only in motor functions, but also in emotional and cognitive processes, which could explain some of the psychopathological manifestations associated with EDs [16]. Our patient presented with a combination of disordered eating behaviors and difficulty in managing emotional self-regulation. Patients suffering from EDs seem to display greater emotional dysregulation than healthy individuals and, more specifically, patients with ARFID present extremely high rates of anxiety disorders [7]. The dramatic improvement in our patient’s condition after neurosurgery supports the hypothesis of an underlying neurological cause justifying both the disturbed eating habits, psychological distress and intracranial hypertension with secondary empty sella. In children, tumors in the hypothalamic-optic chiasma or near the fourth ventricle can manifest as severe failure to thrive [17]. This clinical presentation was first described by Russell in 1951 and is known as diencephalic syndrome characterized by a severe growth retardation or emaciation associated with alteration of hypothalamic structures. Abnormalities in hormonal regulation have also been suggested, such as central hypothyroidism [18]. As seen in our patient, posterior fossa tumors can alter cerebral fluid circulation causing intracranial hypertension with dilatation of the ventricles and a continuous increased intracranial pressure leading to an intrasellar arachnoidocele and a flattened pituitary gland, resulting in an empty sella turcica on MRI [19]. This compression can alter antero-pituitary functions, impacting one or multiple hypothalamo-pituitary axes concurrently. Central hypothyroidism occurs in up to 50% of cases, with some being isolated [20]. Due to the significant risk of developing central hypothyroidism, and the recent fluctuation in our patient’s TSH and FT4 levels, vigilant hormonal monitoring was advised. The postoperative improvement in our patient’s eating behaviors could also be interpreted as the result of a persuasive implicit suggestion, based on various induction levers. Furthermore, the announcement of the tumor diagnosis could potentially have had a favorable indirect impact on the evolution of the ED’s course by mobilizing family interaction and support. Although this hypothesis cannot be definitively ruled out, the full reversibility of eating behavior and the improvement in growth, abdominal pain and handwriting significantly support the explanation of a causal link between the cerebellar ganglioglioma and our patient’s clinical presentation. However, the long-term prognosis regarding the impact of the residual tumor on the patient’s general health and eating habits remains uncertain.

Conclusion

To our knowledge, this is the first case described in the literature of an adolescent with a cerebellar tumor suffering from a disordered eating mimicking an ARFID-like syndrome. We hypothesize that the altered eating patterns may be neurologically driven, linked to disruptions in cerebellar connectivity networks involving other brain regions. Recent scientific data support the role of cerebellar dysfunction in emotional regulation and eating behaviors, suggesting that alterations in these neural networks—potentially implicating the hypothalamus and cerebellum—may contribute to both the eating disturbances and mood dysregulation. Our case argues for greater clinical awareness of the possible neurological contributions in ARFID. This study strongly supports the role of brain imagery in adolescents with recent disordered eating or atypical ED, particularly in cases of growth retardation, to exclude the possibility of underlying central nervous system tumors.

Data availability

No datasets were generated or analysed during the current study.

Acknowledgements

Thanks to the multidisciplinary consultation meeting of Pr Jerôme Bertherat’s department of endocrinology-Cochin Hospital-APHP-Paris for their helpful review of the case. Thanks to Estelle Blond for reviewing the English of this paper.

Funding

The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

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