A 13-year-old girl suffering from unexplained seizures and no other apparent symptoms has finally been diagnosed with juvenile Batten disease, according to a recent report.
This is “probably the first case report of [juvenile Batten disease] with only seizures as presentation,” the researchers wrote.
Entitled “Batten disease: A seizure disorder’s battle for diagnosisthe case report was published in the Annals of the Indian Academy of Neurology.
A quartet of scientists in India have described the journey of the teenager, who was brought to the emergency room after suffering a generalized tonic-clonic seizure. Also called grand mal seizures, these seizures are characterized by loss of consciousness and involuntary muscle contractions.
She had experienced similar unexplained seizures over the previous two years, and an MRI of her brain showed areas of damage. However, initial examinations showed no other obvious abnormalities. The girl’s development throughout infancy was unremarkable, and assessments of behavior and cognition were within normal limits for a child of her age. His vision tests were also normal.
“Our patient did not have a typical presentation of [juvenile Batten disease] as his detailed visual assessment and cognitive and behavioral assessments were normal. She had no other neurological deficits and the only presentation was seizures,” the researchers wrote.
A battery of lab tests were performed, including metabolic evaluations, analysis of the girl’s cerebrospinal fluid or CSF – the fluid around the brain and spinal cord – muscle biopsies and testing for infections .
Among the notable findings, analyzes of muscle biopsies showed granular osmiophilic deposits in the girl’s muscle cells. These abnormal collections of cellular material are characteristic of Batten disease.
Other abnormalities commonly associated with Batten, such as fingerprints and curvilinear lysosomal inclusions, have also been noted.
Based on these findings, the girl was diagnosed with probable juvenile Batten disease. The girl’s family chose not to perform genetic testing to confirm the diagnosis.
“Diagnosis of [juvenile Batten disease] becomes extremely difficult in the absence of typical clinical signs; however, in the absence of any other definitive cause of crisis, [juvenile Batten disease] should be kept as a rare differential diagnosis and should be assessed accordingly,” the researchers wrote.
“We were able to establish the diagnosis with the help of [tissue analysis]and electron microscopic features that clearly suggested [juvenile Batten disease]“, they concluded.