A rare case of diencephalic cachexia in an adult female with cranio-pharyngioma

Abstract

Diencephalic cachexia (DС) is progressive weight loss despite a normal caloric intake and a satisfactory state of health, which is caused by hypothalamic lesions. This is a rare (about 100 cases were reported) and potentially fatal disorder of unknown pathogenesis. At present, there is no effective pharmacological therapy for the disorder. Cachexia may regress only if the tumor reduces in size, therefore the timely diagnosis and treatment are of vital importance for the patient. DС is typical of early childhood, and only a few cases have been reported in adults. We present a rare case of DС in a 24-year-old female with papillary craniopharyngioma.

Diencephalic syndrome as presentation of giant childhood craniopharyngioma: Management review

“…Klochkova et al . [2] reported a case of DES in a 24-year-old female with papillary craniopharyngioma managed surgically, suggesting DES can also occur in adult population.…”

“…[23456] As DES typically exhibits complex signs and symptoms related to hypothalamic dysfunction, such nonspecific clinical features often lead to miss diagnosis, and lack of awareness among physicians, pediatricians, and neurosurgeons and nonspecific presenting symptoms are other factors responsible for delayed diagnosis of DES and associated causative lesions. [27] In 2017, a review by Klochkova et al . [2] found out approximately 100 cases of DES in detailed literature search.…”

“…[27] In 2017, a review by Klochkova et al . [2] found out approximately 100 cases of DES in detailed literature search. Childhood craniopharyngiomas are usually associated with excessive weight gain and hypothalamic obesity but typical clinical manifestations include the development of a diencephalon syndrome with a failure to thrive or maintain weight at appropriate body mass index.…”