Like any carefree boy of his age, Justin Cho loved to giggle. But delightful as it might appear to onlookers, those random outbursts were actually signs of a benign tumour lurking in his brain.

“Our son has always been happy and seemed to giggle whenever he was tired, so we just thought it was his body's way of letting him know it was time to go to sleep,” said Robert Cho, father of the nine-year-old.

“We had no idea it could be something so serious.”

Gelastic epilepsy is rare and affects one in a million globally

Justin’s condition became noticeably unusual in July 2015 when he had his usual giggle fits followed by a full-fledged classic epileptic seizure in their Los Angeles home. Justin was then rushed to the UCLA Mattel Children's Hospital in California where he was diagnosed with an extremely rare condition called gelastic epilepsy, caused by a benign mass in his brain.

“Ever since he was an infant he would giggle and it would be very short lived, anywhere between two to five seconds,” said Justin’s father.

For some patients, they do not present with many symptoms and even if they do, the symptoms are mild and are often overlooked by parents and doctors.

Common symptoms are frequent daily seizures which involve spontaneous laughing, giggling, smirking, crying or grunting.

Some patients may have angry outbursts and aggressive tendencies which are beyond their control, with many described as having oppositional-defiant disorder. These angry outbursts, often referred to as hypothalamic rages, sometimes fade off in the memory once it is over.

Dr Aria Fallah, a paediatric neurosurgeon at UCLA Mattel Children's Hospital, explained that hypothalamic hamartoma is usually present since birth, but most parents do not notice it until years later.

"It usually takes a long time," said Dr Fallah. "Not many parents think giggling is problem, they think 'Oh my child is happy'.”

Possibility of cognitive impairment if untreated

According to Dr Fallah, the area where hypothalamic hamartoma occurs is deep within the brain and a vital spot which involves keeping the body functioning normally.

“Unfortunately, the lesions are located in a very difficult area that's not only hard to access, but surrounded by critical nerves, arteries, veins and neurological tissue, crucial for everyday life,” added Dr Fallah.

According to the National Organisation for Rare Disorders, the lesion could result in developmental delay, cognitive deterioration such as memory loss, and psychiatric symptoms such as rage behaviours.

“These types of lesions simply don't respond to medication, so surgery is the only way to cure the seizures,” said Dr Fallah.

Traditionally, open surgery is carried out to remove a part of the skull and cut the brain open to reach the lesion. However, the risks of brain damage and mortality are high.

Short recovery time with minimally invasive procedure

Instead of going for the traditional route, Dr Fallah and his team devised a minimally invasive procedure which used sophisticated virtual reality mapping to pinpoint the tumour, followed by a two-millimeter incision made in the patient's skull.

“We then feed a tiny optic laser through the brain, into the mass or lesion and essentially cook it,” said Dr Fallah.

After the lesion is destroyed, no new seizures are expected unless another lesion forms.

The minimally invasive technique allows a much shorter recovery time compared to traditional surgery, and most patients can resume their normal activities after surgery.

“There's essentially no recovery time,” Dr Fallah said. “By the time he wakes up, he is almost ready to leave.”

Now, six months on and Justin has had no further seizures.

“Prior to this you'd see bursts of himself,” Dr Fallah said. “Now he's more of himself.” MIMS

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