Diagnostic dilemma: A brain lesion gave a woman a lifetime of joyless laughing fits


The patient: A 31 year old woman
The symptoms: The woman went to a clinic because she had long had uncontrollable fits of laughter, which doctors described as “joyless” in a report of his case. According to the patient, she had had these intermittent involuntary bursts of laughter since childhood, but her condition had never been formally investigated or diagnosed.
The woman noted that when she was a child, each episode lasted several minutes and occurred more frequently – about six or seven times a day, and sometimes while she was sleeping. His parents did not recognize that this laughter was beyond his control. Instead, they thought her laughter was deliberate and would ask her to stop, the patient reported. As she grew older, the bursts of laughter became shorter and less frequent.
What happened next: Before the patient’s visit to the clinic, MRI and electroencephalography (EEG) of her brain showed no abnormalities. However, when clinicians reviewed videos of his laughing episodes, they noted that they looked very similar to gelastic convulsions. This type of seizure usually triggers uncontrolled laughing, laughing, or smirking, but it can also cause grunting, mumbling, or lip smacking. Its name comes from the Greek word meaning laugh (“laughter”).gelastikos“).
Gelastic seizures are usually focal, meaning they are caused by abnormal electrical activity in a specific part of the brain. During a second MRI, doctors discovered an abnormal area in the hypothalamusa key structure for maintaining homeostasis. The anomaly measured approximately 0.2 inches (5 millimeters) in width.
The diagnosis: They identified the lesion as hypothalamic hamartomaa non-cancerous lesion that occurs during fetal development. A characteristic feature of this lesion are gelastic crises that cause involuntary bursts of laughter, during which the individual is aware of their actions but cannot control them. The exact reason why these lesions trigger laughing fits is not fully understood.
The treatment: The patient had previously taken trial doses of antiepileptic medications. levetiracetam And lamotriginewhich are used to treat epilepsy, without effect. Since her episodes weren’t severe, the woman decided she didn’t want medication.
She had no other behavioral or cognitive problems and the severity and frequency of seizures had decreased over time. Clinic doctors therefore determined that no further treatment was necessary.
What makes the case unique: Hypothalamic hamartomas are rare, but when they do occur, they are generally accompanied by cognitive and behavioral disturbances. In children, these growths can cause developmental delays or trigger the early onset of puberty because the hypothalamus helps regulate hormones. Patients who experience gelastic seizures triggered by these lesions often develop more severe forms of epilepsy and later experience other types of seizures.
This woman’s case is very unusual because her symptoms naturally decreased to a manageable level. This benign outcome of epilepsy associated with hypothalamic hamartomas, “to our knowledge, has not been reported previously,” the doctors write.
For more intriguing medical cases, check out our Diagnostic Dilemma Archives.
This article is for informational purposes only and is not intended to offer medical advice.




