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[Russel's syndrome: diencephalic tumor in a child]
L A Da Motta1, O V Garcia Filho, M P Horta
1Unidade de Neurocirurgia do Hospital de Base do Distrito Federal, Brasília, Brasil.
Insights
This case study presents a male child with Russel syndrome caused by a pilocytic astrocytoma. Treatment with radiotherapy and surgery led to significant weight gain and improved condition.
Area of Science:
- Pediatric Endocrinology
- Pediatric Neurology
- Pediatric Oncology
Background:
- Russel syndrome, characterized by severe weight loss and endocrine dysfunction, can be associated with hypothalamic-pituitary region tumors.
- Pilocytic astrocytomas are common pediatric brain tumors, often presenting with varied neurological and endocrine symptoms.
Observation:
- A male infant presented with progressive weight loss, emaciation, and signs of increased intracranial pressure including papilledema and strabismus.
- Neurological examination revealed spastic tetraparesis and abnormal reflexes.
- Endocrine evaluation demonstrated elevated growth hormone (GH), thyroid-stimulating hormone (TSH), and prolactin levels, with blunted responses to TRH stimulation tests.
Findings:
- The patient was diagnosed with a diencephalic pilocytic astrocytoma causing Russel syndrome.
- Treatment involved radiotherapy and subtotal tumor resection.
- Post-treatment follow-up showed significant weight gain and clinical improvement.
Implications:
- Early diagnosis and multidisciplinary management are crucial for improving outcomes in children with brain tumors presenting with Russel syndrome.
- This case highlights the complex interplay between neuro-oncology and pediatric endocrinology in managing such rare conditions.
- Further research into the endocrine effects of diencephalic tumors is warranted.
Abstract:
The case of a male child with Russel's syndrome due to a pilocytic astrocytoma located in the diencephalic region is presented. The diagnosis was made in the 16th month of age, but symptoms began in the 4th months of life, when he started losing weight. By the time he was admitted weight was 6150g and he was 74cm tall, with an emaciated aspect, no panniculus adiposus, irritated, and with symptoms of intracranial hypertension. There was convergent strabismus, vertical nystagmus of the left eye and bilateral papilledema. Tendinous reflexes were exacerbated and he had spastic tetraparesis. The endocrine evaluation showed a basal raise of GH (23ng/ml), TSH (6.2mUI/1) and prolactin (26ng/ml). The first two hormones did not respond to the acute test with TRH, while prolactin had a poor response. He was submitted to radiotherapy with linear acceleration (total dose of 4000 rads) and surgery, during which the tumor could not be completely removed due to its large size. After 9 months, the child is doing well, with a considerable weight gain (2500g).