Interstitial lung disease-brain calcification syndrome

Interstitial lung disease-brain calcification syndrome, also known as Labrune syndrome or leukoencephalopathy with calcifications and cysts (LCC), is an extremely rare genetic disorder characterized by the combination of progressive interstitial lung disease and intracranial calcifications. The condition primarily affects two major organ systems: the lungs and the central nervous system. In the brain, patients develop leukoencephalopathy (white matter disease), cerebral calcifications, and brain cysts, which can lead to neurological symptoms including seizures, cognitive decline, movement difficulties, and progressive neurological deterioration. The pulmonary component involves interstitial lung disease that can cause progressive respiratory insufficiency with symptoms such as shortness of breath, cough, and reduced exercise tolerance. The syndrome has been linked to biallelic mutations in the SNORD118 gene (also known as U8 small nucleolar RNA), which plays a role in ribosomal RNA processing. The disease can present at variable ages, from childhood through adulthood. Brain imaging typically reveals characteristic findings of diffuse cerebral calcifications, white matter changes, and cystic lesions. There is currently no curative treatment for this condition. Management is supportive and symptomatic, focusing on controlling seizures with antiepileptic medications, managing respiratory symptoms, and providing rehabilitation services. Monitoring of both neurological and pulmonary function is essential for ongoing care. Due to its extreme rarity, much of the clinical knowledge comes from individual case reports and small case series.

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