We describe the case of an infant with diencephalic syndrome (DS), with the aim of raising awareness among pediatricians about this rare cause of failure to thrive (FTT) and reducing diagnostic delay. DS is a rare condition characterized by emaciation, hyperkinesia and/or euphoria, despite normal caloric intake and linear growth. It is a rare manifestation of low-grade gliomas or craniopharyngiomas involving the hypothalamus and the diencephalon. Clinical manifestations beyond DS are mainly neurological and visual in nature, sometimes associated with endocrinological alterations and hypothalamic dysfunctions. However, neurological or endocrine signs often appear in the advanced stages, leading to diagnostic and therapeutic delays and an increased risk of long-term complications. DS generally regresses after cytoreductive surgery and/ or chemotherapy, but subsequent evolution towards hypothalamic obesity is frequent.
Diencephalic syndrome: An often unrecognized cause of failure to thrive|La sindrome diencefalica: una causa spesso misconosciuta di Failure to Thrive
Mandato C.;
2025
Abstract
We describe the case of an infant with diencephalic syndrome (DS), with the aim of raising awareness among pediatricians about this rare cause of failure to thrive (FTT) and reducing diagnostic delay. DS is a rare condition characterized by emaciation, hyperkinesia and/or euphoria, despite normal caloric intake and linear growth. It is a rare manifestation of low-grade gliomas or craniopharyngiomas involving the hypothalamus and the diencephalon. Clinical manifestations beyond DS are mainly neurological and visual in nature, sometimes associated with endocrinological alterations and hypothalamic dysfunctions. However, neurological or endocrine signs often appear in the advanced stages, leading to diagnostic and therapeutic delays and an increased risk of long-term complications. DS generally regresses after cytoreductive surgery and/ or chemotherapy, but subsequent evolution towards hypothalamic obesity is frequent.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.


