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Diencephalic syndrome: clinical features and imaging findings
T Y Poussaint1, P D Barnes, K Nichols
1Department of Radiology, Children's Hospital, Boston, MA 02115, USA.
Insights
Diencephalic syndrome in children, often caused by hypothalamic/chiasmatic astrocytomas, presents with failure to thrive. Imaging is crucial for diagnosing these aggressive, large tumors in young children.
Area of Science:
- Pediatric Oncology
- Neuroradiology
- Pediatric Neurology
Background:
- Diencephalic syndrome is a rare condition in children.
- Hypothalamic/chiasmatic astrocytomas are a significant cause.
- Early diagnosis is often delayed due to non-specific symptoms.
Purpose of the Study:
- To highlight the critical role of imaging in diagnosing diencephalic syndrome.
- To emphasize the characteristics of astrocytomas associated with this syndrome.
Main Methods:
- Retrospective analysis of nine pediatric patients with diencephalic syndrome.
- Review of clinical records, imaging, and follow-up data.
- Histopathological confirmation of low-grade astrocytoma in biopsy samples.
Main Results:
- All patients presented with failure to thrive; tumors involved the hypothalamus and chiasm.
- Large tumor size (median 3.5 cm) and homogeneous enhancement were common findings.
- Hydrocephalus, metastases, and aggressive tumor behavior were observed, with high recurrence rates.
Conclusions:
- Diencephalic syndrome due to hypothalamic/chiasmatic astrocytoma requires prompt imaging for diagnosis.
- These tumors are larger, occur in younger children, and are more aggressive than other astrocytomas in this region.
- Imaging is vital for identifying tumor extent, complications like hydrocephalus, and potential metastases.
Purpose:
To emphasize the importance of imaging in children with diencephalic syndrome due to hypothalamic/chiasmatic astrocytomas.
Methods:
Findings in nine patients (mean age, 26 months) with diencephalic syndrome and hypothalamic/chiasmatic astrocytomas were analyzed retrospectively, including reviewing clinical records, imaging examinations, and follow-up studies.
Results:
Symptoms and signs included failure to thrive (n = 9), nystagmus (n = 3), visual field defects (n = 1), optic pallor (n = 1), emesis (n = 2), and headache (n = 1). All patients had hypothalamic/chiasmatic masses. Five patients underwent biopsy, and, in all cases, specimens showed low-grade astrocytoma. Imaging studies were available in eight patients. All tumors were large (median maximum diameter, 3.5 cm), involved the chiasm and hypothalamus, and showed homogeneous enhancement. Three patients had hydrocephalus and two had metastases. At follow-up, five patients had recurrent disease and two had died.
Conclusion:
Diencephalic syndrome is a rare cause of failure to thrive in childhood, and diagnosis of a hypothalamic/ chiasmatic astrocytoma might therefore be delayed. The astrocytomas associated with this syndrome are larger, occur at a younger age, and are often more aggressive than other astrocytomas arising in this region.