A rare cause of basal ganglia and thalamic hyperintensities: infantile nephropathic cystinosis

Nipun Rajgarhia, Departamento de Radiodiagnóstico e Imagenología, Facultad de Medicina de las Fuerzas Armadas, Pune, Maharashtra, India
Pranjal Gupta, Departamento de Radiodiagnóstico e Imagenología, Facultad de Medicina de las Fuerzas Armadas, Pune, Maharashtra, India
Amit Bajpai, Departamento de Radiodiagnóstico e Imagenología, Facultad de Medicina de las Fuerzas Armadas, Pune, Maharashtra, India

A 2-year-old female was presented with history of polyuria, failure to thrive and seizure. On examination, she was found to be anaemic with multiple dot-like crystals in both corneas and whole genome sequencing revealing pathogenic mutation in CTNS gene. MRI Brain showed T2/FLAIR hyperintensities in both basal ganglia & thalamic and also in the pons. Patient was diagnosed as a case of Infantile Nephropathic Cystinosis which is a rare autosomal recessive lysosomal storage disorder caused by intracellular cystine accumulation. These patients present with renal symptoms. MRI Brain in these patients shows cortical atrophy with white matter hyperintensities commonly. These patients have a 12-fold increased risk of having Chiari malformation. The role of imaging is to establish the various CNS manifestations of the disease and also in predicting the development of complications in adults.

Keywords: Infantile. Nephropathic. Cystinosis. Basal ganglia. Thalamus. Polyuria.