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A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Wei Zhao1, Yingli Zhang2, Hongliang Zheng1
1Neurology Department, Ji'ao Brain Hospital of Siping, Siping, Jilin Province, China.
Annals of Clinical and Translational Neurology
|June 15, 2026
Summary
Methylmalonic acidemia, a genetic disorder affecting vitamin B12 metabolism, can cause severe systemic damage. This case highlights its rare co-occurrence with tethered cord syndrome, presenting diagnostic challenges.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Methylmalonic acidemia is an autosomal recessive disorder stemming from methylmalonyl-CoA mutase or cobalamin (vitamin B12) metabolism defects.
- These metabolic disruptions impair the tricarboxylic acid cycle and oxidative phosphorylation, leading to toxic metabolite buildup.
- Tethered cord syndrome involves spinal cord traction, causing conus medullaris malposition and progressive neurological deficits.
Purpose of the Study:
- To describe a diagnostically challenging case report.
- To highlight the unusual clinical intersection of methylmalonic acidemia and tethered cord syndrome.
- To enhance understanding of rare co-occurrences in genetic and neurological disorders.
Main Methods:
- Case report detailing clinical presentation and diagnostic workup.
- Review of relevant literature on methylmalonic acidemia and tethered cord syndrome.
- Analysis of the interplay between metabolic and structural pathologies.
Main Results:
- The case presented a complex diagnostic scenario due to the co-existence of methylmalonic acidemia and tethered cord syndrome.
- Accumulation of methylmalonic acid, propionic acid, and methylcitric acid was observed.
- Neurological symptoms consistent with tethered cord syndrome were present, complicating the clinical picture.
Conclusions:
- The co-occurrence of methylmalonic acidemia and tethered cord syndrome is rare but poses significant diagnostic and management challenges.
- Early recognition and integrated management are crucial for patients with these overlapping conditions.
- Further research into the pathophysiology and clinical implications of such intersections is warranted.
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