Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review

Trapani, Sandra; Bortone, Barbara; Bianconi, Martina; Rubino, Chiara; Sardi, Iacopo; Lionetti, Paolo; Indolfi, Giuseppe

doi:10.1186/s13052-022-01316-4

Cited by 6 publications

(4 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Approximately 9% of tumors are located elsewhere, including the posterior fossa and anterior hypothalamus. Current evidence suggests that a rare population of children with a similar phenotype may have their tumor located in the posterior fossa, explaining the DS-like presentation, a rare entity with few cases reported in the literature [ 17 , 18 , 19 ].…”

Section: Discussionmentioning

confidence: 99%

Diencephalic Syndrome: Misleading Clinical Onset of Low-Grade Glioma

La Spina,

Caruso,

Gulizia

et al. 2023

Current Oncology

View full text Add to dashboard Cite

Background: Diencephalic Syndrome is an atypical early manifestation of low-grade gliomas; so, it is important to detect it in patients that experience a failure to thrive despite adequate length growth and food intake. The purpose of this article is to focus attention on this rare but potentially dangerous cause of poor weight gain or stunting in childhood. Materials and Methods: We describe four patients with Diencephalic Syndrome and low-grade gliomas who were evaluated in our institution from January 2017 to December 2021. Case Description and Results: two patients presented with suspected malabsorption, and two presented with a suspected eating disorder. In all cases, neurological symptoms appeared late, explaining the reason for the diagnostic delay, which impacts negatively on prognosis and on quality of life. Currently, patients 1 and 2 have stable disease in second-line therapy, patient 3 has stable disease post end of second-line therapy, and patient 4 has stable disease in first-line therapy. Everyone is in psychophysical rehabilitation. Conclusions: A multidisciplinary evaluation is essential in order to make an early diagnosis and improve prognosis and quality of life.

show abstract

Section: Discussionmentioning

confidence: 99%

Diencephalic Syndrome: Misleading Clinical Onset of Low-Grade Glioma

La Spina,

Caruso,

Gulizia

et al. 2023

Current Oncology

View full text Add to dashboard Cite

show abstract

“…Diencephalic syndrome: There is general agreement that infants presenting with diencephalic syndrome due to hypothalamic astrocytoma require drug treatment directed at reducing the tumor's metabolic activity and continued growth (17). Chemotherapy with vincristine and carboplatin or vinblastine monotherapy has been extensively used and the parameters of the hypermetabolic syndrome [in which GH excess may play a part] can be expected to be reversed by such treatments (17,18). Serious neurological toxicity has been reported where tumor response is dramatic (19).…”

Section: Selecting Cases For Observation Vs Treatmentmentioning

confidence: 99%

A new era for optic pathway glioma: A developmental brain tumor with life-long health consequences

et al. 2023

View full text Add to dashboard Cite

Optic pathway and hypothalamic glioma (OPHG) are low-grade brain tumors that arise from any part of the visual pathways frequently involving the hypothalamus. The tumors grow slowly and present with features driven by their precise anatomical site, their age at presentation and the stage of growth and development of the host neural and orbital bony tissues. Up to 50% of optic pathway glioma arise in association with Neurofibromatosis type 1 (NF1), which affects 1 in 3,000 births and is a cancer predisposition syndrome. As low-grade tumors, they almost never transform to malignant glioma yet they can threaten life when they present under two years of age. The main risks are to threaten vision loss by progressive tumor damage to optic pathways; furthermore, invasion of the hypothalamus can lead to diencephalic syndrome in infancy and hypopituitarism later in life. Progressive cognitive and behavioural dysfunction can occur, as part of NF1 syndromic features and in sporadic cases where large bulky tumors compress adjacent structures and disrupt neuro-hypothalamic pathways. Persistently progressive tumors require repeated treatments to attempt to control vision loss, other focal brain injury or endocrine dysfunction. In contrast tumors presenting later in childhood can be seen to spontaneously arrest in growth and subsequently progress after periods of stability. These patterns are influenced by NF status as well as stages of growth and development of host tissues. The past two decades has seen an expansion in our understanding and knowledge of the clinical and scientific features of these tumors, their modes of presentation, the need for careful visual and endocrine assessment. This influences the decision-making surrounding clinical management with surgery, radiotherapy, chemotherapy and most recently, the potential benefit of molecularly targeted drug therapy. This article, based upon the authors' clinical and research experience and the published literature will highlight advances in approach to diagnosis, the established role of vision loss as justification of treatments and the emerging evidence of endocrine and neurological consequences that need to be incorporated into judgements for case selection for therapy or observation. Consideration is given to the current state of biological evidence justifying current trials of new therapies, the genetic studies of the NF1 gene and the potential for new approaches to OPHG detection and treatment. The outstanding health system priorities from the perspective of children, their parents and health system commissioners or insurers are discussed.

show abstract

“…Trapani et al [193] provide relevant insights on the diencephalic syndrome, a rare childhood disease causing failure to thrive. They presented three children who were admitted for progressive weight loss.…”

Section: -Diencephalic Syndromementioning

confidence: 99%

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

Caffarelli,

Santamaria,

Piro

et al. 2023

Ital J Pediatr

View full text Add to dashboard Cite

The last year saw intensive efforts to advance knowledge in pediatric medicine. This review highlights important publications that have been issued in the Italian Journal of Pediatrics in 2022. We have chosen papers in the fields of allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology. Novel valuable developments in epidemiology, pathophysiology, prevention, diagnosis and treatment that can rapidly change the approach to diseases in childhood have been included and discussed.

show abstract

Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review

Cited by 6 publications

References 37 publications

Diencephalic Syndrome: Misleading Clinical Onset of Low-Grade Glioma

Diencephalic Syndrome: Misleading Clinical Onset of Low-Grade Glioma

A new era for optic pathway glioma: A developmental brain tumor with life-long health consequences

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

Contact Info

Product

Resources

About