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Diencephalic syndrome (DES) is an extremely uncommon occurrence, and approximately 100 cases have been reported. It presents as a failure to thrive in infants and children but rarely occurs in adult population. The characteristic clinical features of DES include severely emaciated body, normal linear growth and normal or precocious intellectual dev...
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Context 1
... child had rapid deterioration of vision for 6 months for which parents also consulted ophthalmologist, and cranial computed tomography (CT) scan was advised to investigate the unexplained weight loss and thereafter referred to higher neurological center, where he was evaluated and biopsy of the intracranial mass lesion was taken; histopathological evaluation of the specimen was consistent with craniopharyngioma. General examination at current admission showed severely cachectic boy with a body weight of only 12 kg [ Figure 1], height 120 cm, and body mass index of 8.3. He was conscious, oriented with absence of perception of light in both the eyes with spastic quadriparesis. ...
Context 2
... diagnosis is based on the presence of major features comprising severe emaciation despite caloric intake being normal or slightly decreased, locomotor hyperactivity, and euphoria, and minor features such as skin pallor, hypotension, and hypoglycemia. [7] DES usually tends to occur in association with mass lesion located in the sellar-suprasellar hypothalamic , April 2, 2019, IP: 178.171.59.148] region, comprising typically glioma of hypothalamic or optico-chiasmatic region but extremely rarely with craniopharyngioma. Children presenting with DES as a manifestation of intracranial tumor appear to present earlier than those presenting without DES with primary pathology as compared to general population. ...
Context 3
... our case, delay in the diagnosis of DES seen in the developing countries, which may be attributed to high prevalence of illiteracy and poverty, lack of adequate health-care facility as well as lack of awareness among physicians, led to delay in the confirmation of diagnosis by approximately two and half years. from http://www.pediatricneurosciences.com on Tuesday, April 2, 2019, IP: 178.171.59.148] Exact pathophysiology of DES development is still not well understood. ...
Citations
... There is growing interest in the role of GH; it has been noted that some patients had elevated baseline GH levels and none had appropriate GH suppression after glucose loading. The increase in GH levels could be secondary to the release of GH-releasing factors from the hypothalamus and could result in lipolytic activity underlying the absence of subcutaneous fat observed in children with DS [25][26][27][28][29]. ...
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.
... Presenting symptoms of diencephalic syndrome may be unspecific. Most common features are severe emaciation with normal caloric intake, locomotor hyperactivity and euphoria, pallor without anemia, hypoglycemia and hypotension [195]. Neurological symptoms typically appear later and include nystagmus, strabismus and visual loss; intracranial hypertension causing recurrent vomiting can be also present, without signs of psychomotor impairment. ...
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.
... The clinical features of DS can be categorized in major and minor manifestations. The major features include severe emaciation, despite adequate or slightly decreased caloric intake, locomotor hyperactivity and euphoria, whereas minor features comprise pallor without anemia, hypoglycemia and hypotension [26]. Neurological symptoms, including nystagmus and strabismus, typically have a late appearance delaying diagnostic Open Access *Correspondence: sandra.trapani@unifi.it ...
... This condition represents a possible clinical presentation of suprasellar and third ventricular tumors, developing mostly during infancy or childhood, although it has been rarely described also in adults. Low grade astrocytoma (i.e., pilocytic astrocytoma, and pilomyxoid astrocytoma), is by far the most frequent neoplasm causing DS; however, craniopharyngioma has been also reported in children [14,26]. Interestingly, DS is sometimes associated to optic pathway gliomas in neurofibromatosis type 1 [29]. ...
The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic presenting feature, often firstly attributed to gastrointestinal or endocrinological or genetic diseases, is secondary to a malfunctioning hypothalamus, caused by a diencephalic tumor. Due to its unexpected clinical onset, diagnostic delay and misdiagnosis are common. We described a case series of 3 children with diencephalic syndrome admitted at our Hospital, over a 5-year period. Furthermore, a narrative review on all pediatric cases published in the last seventy years was performed. Clinical pattern, timing to diagnosis, neuroimaging, management, and outcome were analyzed. Our three cases are singularly described in all clinical and diagnostic findings. Overall, 100 children were selected; all these cases as well as our children presented with failure to thrive: 96% had body mass index or weight-length/height ratio lower than 5 th percentile. Vomiting and hyperactivity are reported in 35 and 26% of cases, respectively. The neurological features, mainly nystagmus reported in 43%, may occur late in the disease course. In conclusion, the diagnostic delay is the hallmark of diencephalic syndrome, confirming the lack of knowledge by clinicians. The poor weight gain/loss despite adequate length growth and food intake, especially in children with hyperactivity and good psychomotor development, should alert pediatricians towards this condition, before neurological signs/symptoms occurrence.
... The clinical features of DS can be categorized in major and minor manifestations. The major features include severe emaciation, despite adequate or slightly decreased caloric intake, locomotor hyperactivity and euphoria, whereas minor features comprise pallor without anemia, hypoglycemia and hypotension [26]. Neurological symptoms, including nystagmus and strabismus, typically have a late appearance delaying diagnostic Open Access *Correspondence: sandra.trapani@unifi.it ...
... This condition represents a possible clinical presentation of suprasellar and third ventricular tumors, developing mostly during infancy or childhood, although it has been rarely described also in adults. Low grade astrocytoma (i.e., pilocytic astrocytoma, and pilomyxoid astrocytoma), is by far the most frequent neoplasm causing DS; however, craniopharyngioma has been also reported in children [14,26]. Interestingly, DS is sometimes associated to optic pathway gliomas in neurofibromatosis type 1 [29]. ...
Background:
Pediatric spondylodiscitis is rare, hardly diagnosed and treated due to the nonspecificity of clinical presentation and laboratory investigations, difficulty of etiologic identification and lack of management guidelines.
Methods:
A retrospective study was conducted on 29 children with spondylodiscitis. Clinical, hematic and radiologic data were collected and compared between 2 age-subgroups (below and from 4 years old on) to investigate age-related differences. Epidemiologic, management and follow-up data were also described.
Results:
Slight male predominance and a peak of incidence <2 years were observed. Symptoms were significantly differently distributed in the 2 age-subgroups: children <4 years showed mainly refusal/inability to sit or bear weight, irritability, limping and poor general conditions; children ≥4 years most frequently had back pain and fever, and pain upon palpation of the spine. The lumbar spine and more than 1 vertebra were most frequently involved. Median diagnostic delay of 12 days was observed, without significant difference between age-subgroups, and delay >2 months was always associated with multivertebral involvement and complications. All children were treated with broad-spectrum antibiotics for a median of 12 weeks. Only in 1 complicated case, surgical treatment was also required.
Conclusions:
The clinical presentation of spondylodiscitis may be age-specific, with younger children often exhibiting subtle signs and symptoms. Broad-spectrum antibiotics covering for Staphylococcus aureus should be initiated as soon as possible and performed many weeks, being effective in treating the infection without clinical sequelae, even in patients with comorbidities. Surgical treatment should be reserved for complicated cases with neurologic involvement.
Since the early animal lesional and electric brain stimulation experiments of Hetherington and Ranson, it has been appreciated that lesions in certain parts of the hypothalamus can induce profound phenotypes of morbid obesity or dramatic wasting. These and other findings led to the postulation of hypothalamic “satiety” and “feeding” centers. Subsequent clinical observations in humans including characterization of children with morbid obesity associated with entities such as the Prader-Willi and Frohlich syndromes as well as Simmonds’ cachexia demonstrated that similar hypothalamic dysfunction phenotypes existed in human hypothalamic disease. The discovery of leptin and the subsequent better characterization of the hypothalamic basis for modulation of satiety, hunger, and energy balance as well as the discovery of various adipo- and enterocytokines with central hypothalamic modulatory effects crystallized hypothalamic obesity and wasting as distinct and important clinical entities. This manuscript seeks to provide a comprehensive overview of the causes, presentation, and basic pathophysiology of these two disparate but functionally related clinical syndromes.
Despite its benign histopathology, the treatment of craniopharyngioma remains one of the most formidable challenges faced by skull base surgeons. The technical challenges of tackling these complex central skull base lesions are paralleled by clinical challenges related to their unique tumor biology and the often-complex decision making required. In this article, we critically appraise the most recent literature to explore the challenges and controversies surrounding the management of these lesions. The role of curative resections and the shift in the surgical paradigm toward the multidisciplinary goal-directed management approach are discussed.
Introduction: Lipodystrophy is a heterogeneous group of rare diseases characterized by various degree of fat loss which leads to serious morbidity due to metabolic abnormalities associated with insulin resistance and subtype-specific clinical features associated with underlying molecular etiology.
Areas covered: This article aims to help physicians address challenges in diagnosing and managing lipodystrophy. We sistematically reviewed the literature on PubMed and Google Scholar databases to summarize the current knowledge in lipodystrophy management.
Expert Opinion: Adipose tissue is a highly active endocrine organ that regulates metabolic homeostasis in the human body through a comprehensive communication network with other organ systems such as the central nervous system, liver, digestive system and the immune system. The adipose tissue is capable of producing and secreting numerous factors with important endocrine functions such as leptin that regulates energy homeostasis. Recent developments in the field have helped to solve some of the mysteries behind lipodystrophy, that allowed us to get a better understanding of adipocyte function and differentiation. From a clinical standpoint, physicians who suspect lipodystrophy should distinguish the disease from several others that may present with similar clinical features. It is also important for physicians to carefully interpret clinical features, laboratory and imaging results before moving to more sophisticated tests and making decisions about therapy.
