Background: Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive
disorder caused by mutations in the SNORD118 gene. It presents with various neurological
symptoms like seizures, cerebellar or pyramidal signs, or raised intracranial pressure
due to cysts. In the absence of curative treatment options, clinical management focuses
on symptom control and maintaining quality of life.
Methods: We present a case of LCC with progressive neuropsychiatric symptoms and abnormal
movements showing clinical improvement following symptomatic treatment with tiapride.
Results: The patient was born at term. Within the first month of life, he developed neonatal
seizures, which resolved without further recurrence. His psychomotor development was
age-appropriate, with the exception of primary nocturnal enuresis. At the age of 6
years, subtle behavioral abnormalities emerged, raising suspicion of an autism spectrum
disorder. Brain MRI at 7 years showed periventricular T2 hyperintensities. Genetic
testing revealed compound heterozygous pathogenic variants in SNORD118, establishing
the diagnosis of LCC. At the time of diagnosis, the boy did not show any neurological
deficits. However, over the following months, he developed progressively fluctuating
speech disturbances, involuntary movements, and motor and coordination impairments.
Follow-up MRI showed no radiological progression, and the EEG was without epileptiform
discharges. Given the worsening of abnormal movements and tic-like symptoms, symptomatic
treatment with tiapride was initiated. Eight weeks after, the patient showed marked
clinical improvement with reduced symptom burden, improved daily functioning, and
quality of life.
Conclusion: Patients with LCC may present with a wide range of clinical symptoms, including neurological
and neuropsychiatric symptoms. Treatment with neuroleptics such as tiapride may provide
relief in cases with movement disorders and neuropsychiatric manifestations.
