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

Stival A, Lucchesi M, Farina S, Buccoliero AM, Castiglione F, Genitori L, de Martino M, Sardi I - BMC Cancer (2015)

Bottom Line: 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.Baseline endocrine function evaluation was performed in this patient before surgery.The last MRI evaluation showed a good response.

View Article: PubMed Central - PubMed

Affiliation: Neuro-oncology Unit, Department of Paediatric Medicine, Anna Meyer Children's University Hospital and Department of Health Sciences, University of Florence, Florence, Italy. alessia.stival@gmail.com.

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.

No MeSH data available.


Related in: MedlinePlus

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]
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Fig1: 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]

Mentions: In February 2013, a five-month-old infant was admitted to our hospital for weight loss (<3rd percentile) on the advice of his pediatrician (Fig. 1). He was a full-term newborn with no history of inadequate nutrition or gastrointestinal symptoms. The physical examination revealed pallid and dry skin, lack of subcutaneous fat, thin and triangular face, sunken anterior fontanelle, muscle wasting, restlessness, motor hyperactivity, euphoria, nystagmus and convergent strabismus of the left eye. Blood tests, analysis of stool samples and abdominal ultrasound excluded the malabsorption as cause of his state of malnutrition. A cranial TC scan was performed and revealed the presence of a lesion at the suprasellar region. The Gd-enhanced MRI of brain, subsequently required, showed contrast uptake in the perimedullary cisterns (Fig. 2,a-b). The spinal MRI showed absence of leptomeningeal metastases. The patient underwent to a biopsy with sub-frontal access and his postoperative course was without complications. The histopathological examination revealed a proliferation of astrocytes with nuclear atypia and mitotic activity (6X10 HPF) without vascular proliferation or necrosis. By immunohistochemical staining the neoplastic cells were GFAP positive and Synaptophysin and p53 negative. The proliferation index determined estimating the percentage of the Ki-67 positive neoplastic cells on the total of the tumor cells was about 18 %. We did not identify the V600E and KIAA1549 BRAF fusion gene mutations [7]. Furthermore, we did not evidence the presence of H3F3A K27M mutation [8]. The histopathological diagnosis was anaplastic astrocytoma (WHO-grade III). Diagnosis was confirmed by the review of the CNS national panel of pathologists. Therefore, he began a high dose chemotherapy program according to Italian schedule for Infant CNS tumors that included methotrexate, etoposide, cyclophosphamide, vincristine and carboplatin, two cycles of high-dose chemotherapy (thiotepa) and reinfusion of autologous stem cells [9]. The patient described in this study needed nutritional support and was monitored by the nutritional point of view during the treatment and the subsequent follow up. Parenteral nutrition was promptly started. Unfortunately the patient underwent several complications that hindered his weight recovery. He developed a syndrome of inappropriate secretion of antidiuretic hormone following the first two chemotherapy cycles. After only 1 month of parenteral nutrition, a central venous catheter infection by Staphylococcus hominis and Staphylococcus epidermidis occurred. Therefore, the parenteral nutrition was interrupted and replaced with enteral nutrition by nasogastric tube.Fig. 1


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

Stival A, Lucchesi M, Farina S, Buccoliero AM, Castiglione F, Genitori L, de Martino M, Sardi I - BMC Cancer (2015)

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]
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4559913&req=5

Fig1: 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]
Mentions: In February 2013, a five-month-old infant was admitted to our hospital for weight loss (<3rd percentile) on the advice of his pediatrician (Fig. 1). He was a full-term newborn with no history of inadequate nutrition or gastrointestinal symptoms. The physical examination revealed pallid and dry skin, lack of subcutaneous fat, thin and triangular face, sunken anterior fontanelle, muscle wasting, restlessness, motor hyperactivity, euphoria, nystagmus and convergent strabismus of the left eye. Blood tests, analysis of stool samples and abdominal ultrasound excluded the malabsorption as cause of his state of malnutrition. A cranial TC scan was performed and revealed the presence of a lesion at the suprasellar region. The Gd-enhanced MRI of brain, subsequently required, showed contrast uptake in the perimedullary cisterns (Fig. 2,a-b). The spinal MRI showed absence of leptomeningeal metastases. The patient underwent to a biopsy with sub-frontal access and his postoperative course was without complications. The histopathological examination revealed a proliferation of astrocytes with nuclear atypia and mitotic activity (6X10 HPF) without vascular proliferation or necrosis. By immunohistochemical staining the neoplastic cells were GFAP positive and Synaptophysin and p53 negative. The proliferation index determined estimating the percentage of the Ki-67 positive neoplastic cells on the total of the tumor cells was about 18 %. We did not identify the V600E and KIAA1549 BRAF fusion gene mutations [7]. Furthermore, we did not evidence the presence of H3F3A K27M mutation [8]. The histopathological diagnosis was anaplastic astrocytoma (WHO-grade III). Diagnosis was confirmed by the review of the CNS national panel of pathologists. Therefore, he began a high dose chemotherapy program according to Italian schedule for Infant CNS tumors that included methotrexate, etoposide, cyclophosphamide, vincristine and carboplatin, two cycles of high-dose chemotherapy (thiotepa) and reinfusion of autologous stem cells [9]. The patient described in this study needed nutritional support and was monitored by the nutritional point of view during the treatment and the subsequent follow up. Parenteral nutrition was promptly started. Unfortunately the patient underwent several complications that hindered his weight recovery. He developed a syndrome of inappropriate secretion of antidiuretic hormone following the first two chemotherapy cycles. After only 1 month of parenteral nutrition, a central venous catheter infection by Staphylococcus hominis and Staphylococcus epidermidis occurred. Therefore, the parenteral nutrition was interrupted and replaced with enteral nutrition by nasogastric tube.Fig. 1

Bottom Line: 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.Baseline endocrine function evaluation was performed in this patient before surgery.The last MRI evaluation showed a good response.

View Article: PubMed Central - PubMed

Affiliation: Neuro-oncology Unit, Department of Paediatric Medicine, Anna Meyer Children's University Hospital and Department of Health Sciences, University of Florence, Florence, Italy. alessia.stival@gmail.com.

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.

No MeSH data available.


Related in: MedlinePlus