Have you ever heard of a condition where a person can suddenly laugh or cry without any apparent reason? This is not just strange behavior, but a symptom of a rare neurological disorder known as hypothalamic hamartoma
Hypothalamic hamartoma is a benign tumor in the area of the hypothalamus, an important part of the brain responsible for many bodily functions [Nathan T. Cohen, 2021; John Beggs, 2008]. One of the most characteristic symptoms of this condition are gelastic seizures – sudden bouts of laughter or crying, not related to the person’s emotional state.
The disease is rare. It occurs in one in two hundred thousand children [Andrea Bernasconi 2019; A.Y. Grigoriev, 2019 ], that’s approximately two children in all of Moscow [Rosstat ]!
The hypothalamus is a part of the brain that plays a crucial role in regulating many body functions. It is connected to almost all other parts of the brain, including the cortex, amygdala, cerebellum, brainstem, and spinal cord [T. Semicheva , Nathan T. Cohen, 2021].
Symptoms can be grouped into three categories [T. Semicheva, 2006 ; John Beggs, 2008, C.List, 1958]:
We understand how difficult it can be to live with such a condition. Sudden episodes of laughter or crying can cause embarrassment and complicate social interactions. But don’t despair! Modern medicine offers a range of effective treatment methods.
Antiepileptic drugs are often used as the first line of therapy. They can help control seizures and improve quality of life. However, it is important to remember that selecting medications is an individual process that requires patience and cooperation with your doctor.
In cases where medication is ineffective, surgical intervention may be recommended. Neurosurgical resection or disconnection of the hamartoma leads to good seizure control but carries risks of complications both from the nervous system and endocrine system. In the early days of surgery, complications occurred in up to half of the cases, which limited the use of this method [J E Paillas, 1969].
Stereotactic surgeries are less traumatic. They are based on constructing the coordinates of the tumor’s location in space using MRI or CT images, and then directing thin instruments through holes in the skull with the help of a helmet, with coordinates like on a globe. The surgeries are performed in several stages:
Preparation : Before the procedure, the patient undergoes an examination, including MRI or CT, to create detailed images of the target area.
Attachment : A special frame is placed on the patient’s head or a stereotactic device is used, which secures the head’s position and aids in precise targeting.
Planning : The doctor uses the obtained images for surgical planning, determining the exact coordinates for the intervention.
Performing the operation : Using miniature instruments or needles, the surgeon makes incisions or administers medications to the necessary areas, following pre-calculated coordinates.
The actual cauterization of the tumor is done with a laser or radiofrequency heating (like a microwave at the tip of a needle)
The frequency of good outcomes reaches 81%, and complications range from 8-20%. The methods are particularly effective in patients with isolated gelastic seizures and intraventricular hamartomas [Kameyama S, 2016; Dorfmüller G, 2008, Du VX, 2017].
Radiation is used, targeting a specific area of the brain. The technique is quite effective and safe. It can achieve 60-70% control over seizure frequency and a low complication rate (2%) [Régis J, 2007; Savateev, 2022 ]. Among the drawbacks is exposure to ionizing radiation.
In all the above cases, the outcome of treatment depends on understanding the connection between the tumor and normal tissue in three-dimensional space. It is important to properly plan the surgery to separate the tumor from the surrounding tissues while preserving healthy areas of the brain.
One of the new treatment methods is MRI-guided focused ultrasound, which is currently mainly used for the treatment of movement disorders. This method can be a good alternative for minimally invasive impact on a tumor, allowing it to be separated from nearby tissues. At the time of writing our article, there were only two publications describing five cases of hypothalamic hamartoma treatment using MRI-guided focused ultrasound, and the results were positive, without side effects [Tierney TS, 2022; Yamaguchi T, 2020].
Each of these methods has its own advantages, and the choice of the most suitable option depends on the individual characteristics of your case. We understand that making a decision about treatment can be a complex and emotional process. But remember: you are not alone in this struggle.
In May 2024, we published in the leading neurosurgeons research journal the first successful experience of dissecting a hypothalamic hamartoma using MRI-guided focused ultrasound в Russia. In the article, we describe a two-year outcome after MRgFUS treatment with no involuntary crying or laughter