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A patient with both Batten’s disease and Moyamoya’s disease – a condition in which blood vessels in the skull become blocked or narrowed, restricting blood flow to the brain – has been described in the first published case of these two conditions occurring in one person.

The case report, “Moyamoya and progressive myoclonic epilepsy secondary to a homozygous CLN6 mutation – An association not previously reported, ”Was published in Epilepsy and behavior reports.

The case concerns a male patient who, at the age of 16, suffered two tonic-clonic seizures while sleeping. At the time, he had no history of seizures – he had a slight tremor in his upper limbs, but no other notable symptoms or medical history.

Brain imaging at the time did not identify any abnormalities. After another seizure over a year later, the patient started taking sodium valproate (brand names Depakote and Epilim, among others), an anticonvulsant.

He continued to have seizures every few months – at first these only happened during sleep, but later seizures also occurred while awake. Her limb tremors worsened and other symptoms developed.

“He described his legs as ‘like jelly’ with occasional drops,” the researchers wrote. “He also noticed a general cognitive slowdown, fatigue and exertion when engaging in conversations with people he knew less well.”

Initially, it was suspected that some of these symptoms could be side effects of medication, so it was replaced with another seizure medication – levetiracetam (brand names Keppra, Spritam, among others) – but this did not help. its symptoms.

The patient underwent further evaluation at 20 years. At that time, the MRI revealed some loss of brain volume, but other evaluations were unremarkable. He was referred for physical therapy which eased the symptoms somewhat – however, they continued to progress.

By the age of 22, the patient needed a wheelchair to get around, his voice had developed a stuttering, and he was unable to cut food or write legibly. The seizures also became more frequent, occurring about once a week. In addition, he constantly suffered from myoclonus – sudden, jerky muscle contractions.

He went to the hospital for further examination, which led to a suspected diagnosis of progressive myoclonic epilepsy – a form of epilepsy characterized by myoclonus and seizures that worsen over time.

A first genetic analysis did not give remarkable results. However, the patient then underwent whole genome sequencing, which revealed mutations in both copies (one inherited from each biological parent) of the CLN6 uncomfortable.

Mutations in this gene are known to cause Batten disease, which, in turn, is a known cause of progressive myoclonic epilepsy. These results confirmed the diagnosis of Batten’s disease in adulthood, or Kufs disease, which is a form of disorder that does not affect vision.

Repeated brain imaging showed the same loss of brain volume previously detected, but there were also previously invisible changes indicating alterations in the brain’s blood vessel system. Further examination revealed abnormal narrowing of several blood vessels that supply blood to the brain.

“Features were consistent with intradural arterial occlusive vasculopathy / Moyamoya disease,” the researchers wrote. “This is Moyamoya’s first report in the context of neuronal ceroid lipofuscinosis. “

After this discovery, the patient began antihypertensive therapy (amlodipine and a statin), with no change in symptoms. Thorough examination of the patient continues.

It is not currently clear whether the patient’s Moyamoya disease is related to Batten disease; however, there may be a biological justification for suspecting such an association. Specifically, Moyamoya disease is known to occur in settings of increased inflammation, and Batten disease is characterized by high inflammation.

As such, it is “not unreasonable to suspect that the mutations observed in CLN6 may have played a role in the pathogenesis [of Moyamoya disease]The researchers wrote.