Imagine being laughing for no reason at all, no a laugh of joy for having heard a joke, but rather a hollow, distressing laugh that you cannot stop. For a 31-year-old woman, this was his reality since he was a baby and for everyone around her this was a simple ‘tic’ or ‘strange’ behavior on her part. But in the end it turned out to be something much more serious: a brain tumor.
A clinical case that is undoubtedly exceptional and that has deserved a publication in the journal Epilepsy & Behavior Case Reports. And it is not only rare because of its symptoms, but also because of the evolution it has had, which a priori has been completely benign. Something that until now had not been documented in anyone, being exceptional.
The laughter. Since childhood, the patient experienced episodes of brief, joyless laughter. Before each episode, she felt a tightness in her neck and chest, a kind of “feeling of anguish” that was warning her of what was coming. Seconds later, laughter broke out, during which she remained conscious, but distressed because no one likes to do something they don’t know why they are doing. Furthermore, without controlling the social context where it occurs.
It all also adds up to a very distressing condition such as having difficulty breathing, red skin, inability to swallow or even ending up crying while laughing.
But within all this there was good news: although in the past the attacks were more frequent, reaching up to 6 or 7 attacks a day that even woke her up at night, over time they became milder and briefer, lasting just one or two seconds. This allowed him to hide them on most occasions.
A late diagnosis. For years the cause was a mystery. The woman underwent a brain MRI and several electroencephalograms that were reported as normal. He was even prescribed treatments with levetiracetam and lamotriginewhich had no effect and were abandoned.
The key came with a second, more detailed MRI. This time, specialists found the culprit: a tiny 5mm abnormality in the hypothalamus, consistent with a hypothalamic hamartoma (HH). A hamartoma is a congenital malformation, similar to a tumor, which in this case was causing the laughter attacks. The final diagnosis was “gelastic crises secondary to a hypothalamic hamartoma”, that is, a very specific type of epilepsy.
A unique case. This case is really special, but not because of what was found in the MRI, but because normally the findings are associated with very serious symptoms such as epileptic seizures or cognitive impairment. But in this case none of these problems developed.
On the contrary, he led a completely normal life with university studies and a stable job in the local administration that did not cause him any difficulties. And all this without having prescribed medication. So the question in these cases is mandatory: why?
The authors are not at all clear about an answer to this question. The most likely explanation is that the size of the hamartoma was exceptionally small. It has been seen in the literature that hamartomas larger than 1 cm in diameter were associated with more severe crises of the “gelastic plus” type. But the small size together with a very specific location probably explains both the mildness of the attacks and the absence of the rest of the serious symptoms.
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