ArticleCureus2025
Severe Neurological Sequelae and Radiological Findings in a Lost-to-Follow-Up Case of Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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3 authors.
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Abstract
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder caused by defective hepatic ornithine transport, leading to hyperammonemia and progressive neurological complications. We report the case of a patient who was treated for hyperammonemic crisis at birth and subsequently diagnosed with HHH syndrome. Management, including ammonia-lowering therapy and a low-protein diet, was initiated; however, due to significant socioeconomic barriers, he was lost to follow-up from the age of two. He re-presented at the age of 12 in a severely debilitated state with global developmental delay and refractory epilepsy. Investigations demonstrated radiological evidence of neurological damage, including corpus callosal atrophy, alongside biochemical and ultrasonographic features of hepatic dysfunction. This case highlights the critical importance of sustained treatment, multidisciplinary follow-up, and adequate social support in preventing irreversible complications of HHH syndrome.
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