A Case Report of Homocystinuria With Dystonia and Stroke

Child Neurology Open
Arezoo RezazadehReza Naghdi

Abstract

Inherited homocystinuria is a rare autosomal recessive aminoacidopathy which through early diagnosis can prevent its severe neurologic and vascular complications. Here we report a 9-year-old girl with homocystinuria, presenting with sequential symptoms of bilateral lens dislocation, skeletal complication, and eventually dystonia from the age of 4 years. Laboratory evaluation revealed severe high serum homocysteine level. Although pathophysiologically unexplained, evidence of deep white matter watershed infarct along with remarkable ipsilateral carotid stenosis was detected on the contralateral side of the dystonia in the neuroimaging. Treatment with high dose of pyridoxine relieved limb and gait dystonia significantly, while carotid stenosis remained unchanged. Therefore, homocysteine might have both structural and irreversible effect and functional and reversible impact that could be overcome even in late stages.

References

Mar 1, 1983·Journal of Neurology, Neurosurgery, and Psychiatry·P Davous, P Rondot
Jun 1, 1997·Journal of Inherited Metabolic Disease·M F Bellamy, I F McDowell
Oct 26, 1999·Cardiovascular Research·S N DoshiI F McDowell
Jul 6, 2000·Acta Neurologica Scandinavica·T MüllerW Kuhn
Aug 2, 2003·Journal of Inherited Metabolic Disease·S Yap
Aug 19, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Ulf J MullerJoerg Mueller
Aug 30, 2008·Neuropsychiatric Disease and Treatment·George NtaiosDimitrios Karamitsos
Sep 18, 2008·Indian Journal of Dermatology, Venereology and Leprology·T Narayana RaoKamal Ahmed
Jul 25, 2009·Stroke; a Journal of Cerebral Circulation·Mi-Hye LimSeul-Ki Jeong
May 12, 2011·Journal of Pediatric Neurosciences·Parveen BhardwajMinoo Sharma

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Citations

Mar 23, 2021·Frontiers in Neurology·Brahim TabarkiMajid Alfadhel
Oct 27, 2021·Indian Journal of Pediatrics·Vykuntaraju K GowdaMaya Bhat

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