P265 – 1749 A novel suspicion index tool to aid diagnosis of Niemann-Pick disease type C (NP-C) in paediatric patients

Abstract

afebrile multifocal epilepsy. CT brain revealed calcification in the basal ganglia bilaterally, thalami and white matter of cerebral hemispheres. This was extensively investigated and no abnormalities were detected. Parents are very poor historians and were reluctant to disclose family history. His five siblings all have a diagnosis of ADHD. Recently his behaviour has deteriorated and he is being investigated for ADHD. Of note the patient’s mother had a previous CT brain which demonstrated striking calcification in the basal ganglia, cerebellum and white matter felt to be consistent with the rare diagnosis of Fahr’s disease. Case report 2: A 13 year old girl was referred to tertiary neurology with focal seizures. She had a background history of delayed motor milestones, stereotypical movements and marked Obsessive Compulsive Disorder manifestations. CT brain revealed bilateral basal ganglia calcification. Discussion: None of these children had significant neurological signs or symptoms but both have neuropsychiatric comorbidities; OCD and ADHD. In case two a heterozygous mutation o SLC20A2 gene has been identified, known to be associated with autosomal dominant intracranial calcification. This same mutation has also been identified in her father. Gene testing is currently awaited in case one. We conclude that CT brain scanning should be considered in all children with psychiatric co-morbidities, seizures and a family history of neuropsychiatric/neurological disorders to look for calcification.