Diagnostic criteria for the hypothalamic syndrome in childhood

Abstract

Objective Hypothalamic syndrome (HS) in childhood is a rare condition. Its epidemiology is not well known because incidence and prevalence are related to very rare underlying diseases. In addition, different criteria for the syndrome are used across studies. Recognizing HS may be difficult, due to its rareness and variety of symptoms. Having diagnostic criteria for signs and symptoms of hypothalamic dysfunction may aid in early recognition and diagnosis, in the reporting and understanding of its etiology, in predicting its course and its management. We aimed to define diagnostic criteria for hypothalamic dysfunction and a score for the presence of HS in childhood. Methods Diagnostic criteria for hypothalamic dysfunction were developed and subdivided into hyperphagia, hypophagia, body mass index, behavioral problems, sleep disorders, temperature regulation disorders, pituitary dysfunction, radiological hypothalamic assessment and presence/suspicion of a hypothalamic genetic syndrome. Subsequently, the scoring system was tested in a retrospective cohort of 120 patients at risk for hypothalamic dysfunction. Results A score for presence of HS was developed. Using this new hypothalamic score, in total 52.5% were scored as having HS. Of these patients, 76.7% were diagnosed with pituitary dysfunction, 32.5% with hyperphagia, 40% with sleep disorders and 14.2% with temperature dysregulation. For several criteria, clinical data was missing in more than 50% of cases. Conclusions The here proposed diagnostic criteria and score for presence of HS may be used for care purposes and to aid in early recognition. Also it will be useful for research or registration purposes.

Endocrine sequelae after pediatric craniopharyngioma treatment: a single-center retrospective cohort study

“…All patients in our study had hypothalamic and/or pituitary involvement at diagnosis. Cohorts of patients from previous studies showed that 76-96% of patients have hypothalamic involvement of the tumor at diagnosis [9]. In our study, all patients developed endocrine sequelae over time, with half of them experiencing failure of at least one endocrine axis at diagnosis of CP.…”

“…This approach has similar relapse rates, but a lower prevalence of severe obesity than gross-total resection [7]. It has been investigated that patients with most severe hypothalamic damage develop panhypopituitarism [9]. We found in our study that only 40% of the patients with major hypothalamic involvement at diagnosis according to the radiological Müller criteria, developed panhypopituitarism.…”

“…In our study, half of the patients eventually developed HO. Ten patients (67%) met Van Santen et al's diagnostic criteria for HS [9]. Due to the retrospective design of our study, there were missing data for all patients, so the clinical criteria could not be assessed completely objectively.…”

“…Van Santen et al recently published novel clinical diagnostic criteria for hypothalamic syndrome (HS), because the severity of radiological involvement is not always related to the clinical grade of hypothalamic damage or the presence of HO. Having diagnostic criteria for signs/symptoms of HS, may aid in early diagnosis and management [9].…”

“…The purpose of this study was to assess the prevalence of endocrine dysfunction and outcome after treatment of CP at our institution, as compared with data from similar studies in the literature and to apply the novel criteria for hypothalamic syndrome [9]. In addition, we provide an overview of treatments already attempted for HO.…”