High Myopia: A Pointer of an Inborn Error of Metabolism

An 11-year-old boy with marfanoid habitus and high myopia presented with multiple episodes of seizures. He was found to have arachnodactyly, hypermobile joints, ectopia lentis, cerebral venous sinus thrombosis (CVST) with very high serum methionine and homocysteine. Genetic evaluation unveiled homoc...

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Autores principales: Sahu, Sanjay Kumar, Behera, Jyoti Ranjan, KR, Jishnu, Puramjai, Moparthi, Gudu, Ramakrushna, Dash, Arun K, Rup, Amit R, Patnaik, Sibabratta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8816446/
https://www.ncbi.nlm.nih.gov/pubmed/35154919
http://dx.doi.org/10.7759/cureus.20930
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author Sahu, Sanjay Kumar
Behera, Jyoti Ranjan
KR, Jishnu
Puramjai, Moparthi
Gudu, Ramakrushna
Dash, Arun K
Rup, Amit R
Patnaik, Sibabratta
author_facet Sahu, Sanjay Kumar
Behera, Jyoti Ranjan
KR, Jishnu
Puramjai, Moparthi
Gudu, Ramakrushna
Dash, Arun K
Rup, Amit R
Patnaik, Sibabratta
author_sort Sahu, Sanjay Kumar
collection PubMed
description An 11-year-old boy with marfanoid habitus and high myopia presented with multiple episodes of seizures. He was found to have arachnodactyly, hypermobile joints, ectopia lentis, cerebral venous sinus thrombosis (CVST) with very high serum methionine and homocysteine. Genetic evaluation unveiled homocystinuria due to cystathionine beta-synthase deficiency. The patient was treated with high-dose pyridoxine, methionine restricted diet, anticonvulsants, warfarin, and correction of ectopia lentis. Homocystinuria should be suspected in patients with tall stature and pathological myopia. Early treatment can prevent thromboembolic complications.
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spelling pubmed-88164462022-02-10 High Myopia: A Pointer of an Inborn Error of Metabolism Sahu, Sanjay Kumar Behera, Jyoti Ranjan KR, Jishnu Puramjai, Moparthi Gudu, Ramakrushna Dash, Arun K Rup, Amit R Patnaik, Sibabratta Cureus Genetics An 11-year-old boy with marfanoid habitus and high myopia presented with multiple episodes of seizures. He was found to have arachnodactyly, hypermobile joints, ectopia lentis, cerebral venous sinus thrombosis (CVST) with very high serum methionine and homocysteine. Genetic evaluation unveiled homocystinuria due to cystathionine beta-synthase deficiency. The patient was treated with high-dose pyridoxine, methionine restricted diet, anticonvulsants, warfarin, and correction of ectopia lentis. Homocystinuria should be suspected in patients with tall stature and pathological myopia. Early treatment can prevent thromboembolic complications. Cureus 2022-01-04 /pmc/articles/PMC8816446/ /pubmed/35154919 http://dx.doi.org/10.7759/cureus.20930 Text en Copyright © 2022, Sahu et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Sahu, Sanjay Kumar
Behera, Jyoti Ranjan
KR, Jishnu
Puramjai, Moparthi
Gudu, Ramakrushna
Dash, Arun K
Rup, Amit R
Patnaik, Sibabratta
High Myopia: A Pointer of an Inborn Error of Metabolism
title High Myopia: A Pointer of an Inborn Error of Metabolism
title_full High Myopia: A Pointer of an Inborn Error of Metabolism
title_fullStr High Myopia: A Pointer of an Inborn Error of Metabolism
title_full_unstemmed High Myopia: A Pointer of an Inborn Error of Metabolism
title_short High Myopia: A Pointer of an Inborn Error of Metabolism
title_sort high myopia: a pointer of an inborn error of metabolism
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8816446/
https://www.ncbi.nlm.nih.gov/pubmed/35154919
http://dx.doi.org/10.7759/cureus.20930
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