Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review

Abstract

Labrune's syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr's syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome.

Keywords: Fahr’s syndrome; Intracranial calcification; Labrune’s syndrome; Malaysia; SNORD118.

Figure 1.

A: MRI of the brain on T1-weighted (a, b), T2-weighted (c, d), GRE (e, f) and T1-weighted post contrast (g, h) at the level of basal ganglia (top row) and centrum semiovale (bottom row). Multifocal calcifications at the basal ganglia and the deep white matter (thin arrows), the latter is associated with asymmetrical confluent deep white matter T2 hyperintensities (block arrow), without mass effect. The calcifications demonstrate variable signals on T1 and T2, hypointense on GRE and are non-enhancing. B: Series of imaging (MRI [a., b.] and CT [c.]) of the patient at different ages. (a.) At the age of 15 (top row), (b.) at the age of 17 (middle row), and (c.) at the age of 19 (bottom row). The calcifications demonstrate size increment over time whilst the white matter abnormalities are relatively stable in extent. GRE, gradient echo sequences; MRI, magnetic resonance imaging; CT, computed tomography.