SHM Converge Scientific Abstract ePoster Gallery-Growth Interrupted: Delayed Diagnosis of Diencephalic Syndrome

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This case report describes a rare and dangerous cause of failure to thrive in infants: diencephalic syndrome (DS). DS typically presents with severe weight loss and emaciation despite normal or adequate caloric intake, while linear growth is often preserved. It is most commonly associated with tumors in the hypothalamic-optic chiasmatic region, especially astrocytomas.<br /><br />The patient was a 2-year-old girl who had stopped gaining weight around 9 months of age. Over time, her height continued to increase, but her weight remained extremely low. She underwent repeated evaluations at outside hospitals, including CBC, TSH, CMP, ESR, celiac testing, endocrine workup, and genetic testing, all of which were unrevealing. Her symptoms were initially attributed to insufficient caloric intake, and she was treated with high-calorie foods and appetite stimulants such as cyproheptadine/Periactin.<br /><br />Despite this, her growth pattern remained concerning. She was eventually referred to gastroenterology at 2 years old, weighing only 7.90 kg (0.01 percentile). Her preserved linear growth and profound emaciation suggested DS, prompting further investigation. Brain MRI, performed 15 months after symptom onset, revealed a large hypothalamic/optic chiasm mass consistent with an optic pathway-hypothalamic glioma, with concern for metastatic spread to the spine.<br /><br />The report highlights that DS is frequently missed because children may appear alert and otherwise well, and neurological signs such as nystagmus or visual changes may appear late. Delayed diagnosis can worsen prognosis, with prior reports noting significant mortality. The authors emphasize that clinicians should consider early brain MRI in children with unexplained failure to thrive and a growth pattern suggestive of DS, even when neurological symptoms are absent.

Asset Subtitle

Ethan S. Wen

Meta Tag

Author List Amber Bo, Ethan S. Wen, Janice Bitong

Category Clinical Vignettes

Concept Diencephalic Syndrome

Concept Weight Faltering

Concept Linear Growth

Concept Hypothalamus

Concept Brain MRI

Distinguished Non-Finalist

Presenter Organization Medical College of Wisconsin

Presenting Author Ethan S. Wen

Track Pediatric

Keywords

diencephalic syndrome

failure to thrive

infant weight loss

preserved linear growth

hypothalamic tumor

optic chiasm mass

astrocytoma

brain MRI

optic pathway glioma

pediatric emaciation

Diencephalic Syndrome

Weight Faltering

Linear Growth

Hypothalamus

Brain MRI