An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma

Abstract

Background: Diencephalic Syndrome is a rare clinical condition of failure to thrive despite a normal caloric intake, hyperalertness, hyperkinesis, and euphoria usually associated with low-grade hypothalamic astrocytomas.

Case presentation: We reported an unusual case of diencephalic cachexia due to hypothalamic anaplastic astrocytoma (WHO-grade III). Baseline endocrine function evaluation was performed in this patient before surgery. After histological diagnosis, he enrolled to a chemotherapy program with sequential high-dose chemotherapy followed by hematopoietic stem cell rescue. The last MRI evaluation showed a good response. The patient is still alive with good visual function 21 months after starting chemotherapy.

Conclusions: Diencephalic cachexia can rarely be due to high-grade hypothalamic astrocytoma. We suggest that a nutritional support with chemotherapy given to high doses without radiotherapy could be an effective strategy for treatment of a poor-prognosis disease.

Fig. 1

Photomicrographs of the lesion: astrocytes with nuclear atipia and mitosis (arrows) (a: hematoxylin and eosin, 40X) and high proliferation index (b, Ki-67 mmunocoloration, 10X). The surgical sample was routinely fixed in neutral buffered formol and embedded in paraffin. One 5 μm thick histological section obtained from each paraffin block was stained with hematoxylin and eosin. Further sections of the most representative paraffin block were used for immunohistochemistry and molecular analysis. Immunohistochemical studies were performed using the standard streptavidin-biotin technique and commercially available antibodies (Glial Fibrillary Acidic Protein, GFAP; p53 protein; Synaptophysin, SP; Ki-67). BRAF and H3F3 genes were analyzed as previously described [7, 8]

Fig. 2

Serial MRI scans showing response to high doses chemotherapy in a five-month-old infant with hypothalamic anaplastic astrocytoma. Axial and coronal Gd-enhanced T1-weighted MR scans: immediately post-biopsy image of the hypothalamic lesion (a-b); c post-chemotherapy MRI scans demonstrating a partial response (c-d); MRI scans showing a stable disease 27 months from diagnosis (e-f)