T. P. was a 10 year old boy who had been previously seen by an endocrinologist for early pubertal signs. He then became more fidgety and had trouble concentrating in school. Friends and family then noticed repeated episodes where he would be irritable, then laugh and turn his head to the right. The laughing was not related to anything funny and did not sound like his regular laugh. He was referred for an MRI of the brain which showed a mass in the hypothalamus. He was started on medications for seizures. A repeat MRI showed growth in the mass so a neurosurgeon removed it. T.P continues to have very infrequent seizures and is doing much better in school. The neurosurgeon tells us that he has to be watched carefully with repeat MRI scans. If his tumor comes back, he may need more surgery.
Small tumors in the base of the brain that affect the hypothalamus can cause a syndrome consisting of abnormally early puberty, partial seizures with laughing as a frequent feature, and increased irritability and aggression between the seizures. The partial seizures may be simple or complex and there may be secondary generalized tonic-clonic seizures. Affected individuals are often short and have mild abnormalities in their physical features (dysmorphisms). A high-quality MRI brain scan is necessary for diagnosis.
If the tumor extends beyond the hypothalamus and below the brain, treatment with surgery may be an option. Antiepileptic drugs can also be beneficial, as well as drugs aimed at hormonal and behavioral problems, if needed.