What characterizes Labrune syndrome?
This syndrome is characterized by the radiological triad of edematous leukoencephalopathy, brain calcifications, and formation of parenchymal cysts (LCC). There is a progression of the lesions, and the cysts may increase in size over time, leading to compressive complications.
What are the clinical manifestations of Labrune syndrome?
The clinical presentation is nonspecific and variable and may include developmental delay, cognitive performance decline, convulsive seizures, headaches, visual disturbances, dysarthria, and pyramidal, extrapyramidal, and cerebellar signs (progressive motor disturbances, hemiparesis, spasticity, dystonia, ataxia, impaired gait).
How is the diagnosis of Labrune syndrome made?
The diagnosis of Labrume syndrome relies upon a combination of neuroimaging studies and genetic tests. The CT and MRI present edematous leukoencephalopathy, with cerebral calcifications and parenchymal cysts. Imaging findings favor increased water content rather than a primary abnormality of the myelination process in the pathophysiology of this disease. The radiological and pathological findings support that Labrune syndrome is associated with the involvement of small vessels. There is a genetic association with mutations in the SNORD118 gene.
What is the treatment of Labrune syndrome?
There is no specific treatment. The treatment modalities available to patients with this syndrome include medical management of epilepsy and raised intracranial pressure, as well as, surgical pressure management.
What are the imaging differential diagnosis of Labrune syndrome?
The differential diagnosis of Labrune syndrome is parasitic infections (neurocysticercosis, hydatid, and cryptococcosis), Coats plus syndrome, and other causes of basal ganglia calcification.
There is progression of the lesions, with persistent widespread white matter signal changes, further enlargement of the extensive coarse calcifications, and some cysts have enlarged gradually in size .
The cyst located in the right hemisphere demonstrates a higher signal than CSF on FLAIR, reflecting high protein content; it causes compression to the adjacent structures such as the right lateral ventricle, as well as effacement of local sulci. It was tiny on the last magnetic resonance study.
The diffusion-weighted image shows no water restriction in the cysts and affected white matter, and ADC demonstrates higher diffusivity, refecting tissue damage compatible with increased water content.