Hypothalamic tumours presenting as the diencephalic syndrome

Danziger, J; Bloch, S

doi:10.1016/s0009-9260(74)80118-2

Cited by 18 publications

(7 citation statements)

References 10 publications

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“…It is characterized by major features (severe emaciation despite normal or slightly decreased caloric intake, locomotor hyperactivity, and euphoria) and minor features (skin pallor without anemia, hypoglycemia, and hypotension). The tumors most often associated with diencephalic syndrome are optic and hypothalamic astrocytomas 4 , 5 , 6 , 10 , 11 , 12 , 13) .…”

Section: Discussionmentioning

confidence: 99%

Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants

et al. 2015

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PurposeDiencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome.MethodsWe performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain.ResultsDiencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was 18±10.5 months, and diagnosis after symptom onset was made at the mean age of 11±9.7 months. The mean z score was -3.15±1.14 for weight, -0.12±1.05 for height, 1.01±1.58 for head circumference, and -1.76±1.97 for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care.ConclusionDiencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.

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Section: Discussionmentioning

confidence: 99%

Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants

et al. 2015

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“…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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“…In our case we found a time period of 2 months. Generally, the clinical signs are slowly progressive (indolent, slow growing tumor); they can, more rarely, be fast, even “explosive.” The associated hypothalamic forms can also manifest as diencephalic syndrome (Russel syndrome) [7 , 8] . It is mostly found in infants and children, with a male predominance.…”

Section: Discussionmentioning

confidence: 99%