Neuropediatrics 2025; 56(S 01): S1-S24
DOI: 10.1055/s-0045-1812167
Varia

Leukencephalopathy with Calcifications and Cysts: A Case Report of Clinical Improvement with Tiapride

Authors

  • H. Sigel

    1   University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany

  • J. Johannsen

    1   University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany

  • C. Hüting

    1   University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany

  • S. Towhidi

    2   Department of Child and Adolescent Psychiatry, Psychotherapy, and Psychosomatics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

  • J. Denecke

    1   University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany

  • A. Bley

    1   University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany
Further Information
Also available at
 

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.



Publication History

Article published online:
26 September 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany