Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome (also known as Rajab-Spranger syndrome or Rajab interstitial lung disease with brain calcifications) is an extremely rare multisystem disorder characterized by progressive white matter disease of the brain (leukoencephalopathy), intracranial calcifications, sensorineural hearing loss, and visual impairment. The condition has been linked to biallelic mutations in the SLC7A2 gene, which encodes a cationic amino acid transporter. Onset typically occurs in infancy or early childhood, with affected individuals developing progressive neurological deterioration, including motor and cognitive decline. The central nervous system is primarily affected, with neuroimaging revealing diffuse leukoencephalopathy and calcifications in the basal ganglia and other brain regions. Additional features may include interstitial lung disease, hepatic involvement, and growth retardation, reflecting the multisystem nature of this condition. Sensorineural deafness and progressive visual loss due to optic atrophy or retinal changes significantly impact quality of life. The disease follows a progressive course, and there is currently no specific curative treatment. Management is supportive and symptomatic, including hearing aids or cochlear implants for deafness, visual aids, physical therapy, and management of respiratory complications when present. Multidisciplinary care involving neurology, pulmonology, ophthalmology, and audiology is essential for optimizing patient outcomes.

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