Diencephalic syndrome as presentation of giant childhood craniopharyngioma: Management review

Abstract

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 development, hyperalertness, hyperkinesis, and euphoria usually associated with intracranial sellar–suprasellar mass lesion, usually optico-chiasmatic glioma or hypothalamic mass. DES as a presentation of craniopharyngioma is extremely uncommon but can also occur with brain stem mass. Detailed PubMed and MEDLINE search for craniopharyngioma associated with DES yielded only six cases in children below 6 years of age. Thus, we reviewed a total of seven cases including previously published six cases and added additional our own case. Overall, the mean age at diagnosis was 4.15 years with male:female ratio of 4:3, the mean time interval between symptom of DES appearance and final diagnosis was 6.6 months. The most commonly observed symptom of DES was weight loss (85%). The clinical feature, imaging, and management of such rare syndrome along with pertinent literature are briefly reviewed.

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

“…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 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 suspicion; the presence of intermittent vomiting should suggest the diagnosis of obstructive hydrocephalus.…”

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

“…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.…”