Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report

Cavicchiolo, Maria Elena; Opocher, Enrico; Daverio, Marco; Bendini, Matteo; Viscardi, Elisabetta; Bisogno, Gianni; Perilongo, Giorgio; Dalt, Liviana Da

doi:10.1007/s00381-013-2109-5

Cited by 12 publications

(18 citation statements)

References 10 publications

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“…Dienchepalic syndrome has been exceptionally reported in NF1 related OPGs Cavicchiolo et al reported a good outcome of diencephalic syndrome in a 3-years-old boy with NF1 and hypothalamicchiasmatic OPG after chemotherapy (27). The median age of our children with DS was 4.66 years, while in sporadic cases of OPGs usually DS tends to occur in the first year of life.…”

Section: Discussionmentioning

confidence: 56%

Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study

Santoro

Perrotta

Picariello

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade optic pathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and type of endocrine disorders in NF1-related OPGs are scarce. Objectives The aim of the study was to determine the prevalence of endocrine dysfunctions in patients with NF1 and OPGs and to investigate predictive factors before oncological treatment. Design Multicenter retrospective study. Settings and patients Records were reviewed for 116 children (64 females, 52 males) with NF1 and OPGs followed at 4 Italian centers. Main outcome measures We evaluated endocrine function and reviewed brain imaging at the time of OPG diagnosis before radio- and chemotherapy and/or surgery. OPGs were classified according to the modified Dodge classification. Results Thirty-two children (27.6%) with a median age of 7.8 years had endocrine dysfunctions including central precocious puberty in 23 (71.9%), growth hormone deficiency in 3 (9.4%), diencephalic syndrome in 4 (12.5%), and growth hormone hypersecretion in 2 (6.2%). In a multivariate cox regression analysis, hypothalamic involvement was the only independent predictor of endocrine dysfunctions (hazard ratio 5.02 [1.802-13.983]; P = .002). Conclusions Endocrine disorders were found in approximately one-third of patients with Neurofibromatosis type 1 and OPGs before any oncological treatment, central precocious puberty being the most prevalent. Sign of diencephalic syndrome and growth hormone hypersecretion, although rare, could be predictive of optic pathway gliomas in NF1. Tumor location was the most important predictor of endocrine disorders, particularly hypothalamic involvement.

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Section: Discussionmentioning

confidence: 56%

Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study

Santoro

Perrotta

Picariello

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…The median age of children diagnosed with DS not associated with NF1 has been reported to be around 10 months [44]. In contrast, the median age of the cases of DS occurring in NF1 patients was relatively advanced, with only 1 patient aged less than 12 months and a 39-year-old man [49]. GH hypersecretion has been frequently described in patients with DS [44,48,49].…”

Section: Diencephalic Syndromementioning

confidence: 99%

“…In affected cases, it usually represents the presenting clinical manifestation of an undiagnosed OPG in an infant or young child. Less commonly, it may become evident later during the progression of an already known OPG due to the enlargement of the tumor which causes compression of the hypothalamus [44,45,46,47,48,49]. The median age of children diagnosed with DS not associated with NF1 has been reported to be around 10 months [44].…”

Section: Diencephalic Syndromementioning

confidence: 99%

Endocrine Implications of Neurofibromatosis 1 in Childhood

Bizzarri

Bottaro

2015

Horm Res Paediatr

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In 1882, von Recklinghausen described a group of patients with multiple tumors arising from the ‘endoneurium' of peripheral nerves, and called them ‘neurofibromas'. The term von Recklinghausen disease was used up to the end of the 20th century, when the gene of neurofibromatosis (NF1) was cloned on chromosome 17q11.2. The gene product is a cytoplasmic protein termed neurofibromin, regulating proliferation and maturation of both glial and neuronal progenitors during embryogenesis. Loss of neurofibromin function determines the hyperactivation of the proto-oncogene RAS, leading to an increased risk of tumor formation, predominantly affecting the skin, bone and the nervous system. NF1 is clinically and genetically distinct from neurofibromatosis type 2, characterized by bilateral vestibular schwannomas and other nervous system tumors. An increased incidence of central precocious puberty, diencephalic syndrome, GH deficiency and GH hypersecretion has been described in NF1 children. These conditions are commonly complications of optic pathway gliomas (OPG) involving the hypothalamic and sellar region. Nevertheless, these endocrine disorders have been observed also in children without evidence of OPG at magnetic resonance imaging. Clinical and laboratory follow-up is crucial in all children with NF1, particularly in those with an OPG, aiming at the early identification of signs suggestive of secondary endocrine alterations.

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“…Location of the tumor may partially explain the different outcomes reported in these studies. Diencephalic syndrome has been reported in patients with OPG and NF1 as well but the age of onset tends to be older than the OPG patients without NF1 [13].…”

Section: Optic Pathway/hypothalamic Gliomamentioning

confidence: 98%

Early and late endocrine effects in pediatric central nervous system diseases

Aslan¹,

Cheung

2014

Journal of Pediatric Rehabilitation Medicine

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Endocrinopathies are frequently linked to central nervous system disease, both as early effects prior to the disease diagnosis and/or late effects after the disease has been treated. In particular, tumors and infiltrative diseases of the brain and pituitary, such as craniopharyngioma, optic pathway and hypothalamic gliomas, intracranial germ cell tumor, and Langerhans cell histiocytosis, can present with abnormal endocrine manifestations that precede the development of neurological symptoms. Early endocrine effects include diabetes insipidus, growth failure, obesity, and precocious or delayed puberty. With improving prognosis and treatment of childhood brain tumors, many survivors experience late endocrine effects related to medical and surgical interventions. Chemotherapeutic agents and radiation therapy can affect the hypothalamic-pituitary axes governing growth, thyroid, gonadal, and adrenal function. In addition, obesity and metabolic alterations are frequent late manifestations. Diagnosing and treating both early and late endocrine manifestations can dramatically improve the growth, well-being, and quality of life of patients with childhood central nervous system diseases.

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Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report

Cited by 12 publications

References 10 publications

Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study

Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study

Endocrine Implications of Neurofibromatosis 1 in Childhood

Early and late endocrine effects in pediatric central nervous system diseases

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