ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

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Synonyms: Martsolf-like syndrome

A rare genetic neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly severe global development delay seizures hypotonia feeding difficulties variable cardiac abnormalities and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement?

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