Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts
Introduction: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a neurologic disorder characterized by macrocephaly within the first year of life and the delayed onset of motor function deterioration with ataxia and spasticity. Magnetic resonance imaging of the brain is diagnostic...
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| Format: | Article |
| Language: | English |
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Mazandaran University of Medical Sciences
2015-07-01
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| Series: | Journal of Pediatrics Review |
| Subjects: | |
| Online Access: | http://jpr.mazums.ac.ir/browse.php?a_code=A-10-30-36&slc_lang=en&sid=1 |
| _version_ | 1828520968333557760 |
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| author | Cesar Misael Cerecedo Zapata Rocio Adriana Villafuerte De la Cruz Ana Maria Cortes Rubio Mirelle Kramis Hollands Ivonne Natalia Flores Estrada Maria Luz Arenas Sordo |
| author_facet | Cesar Misael Cerecedo Zapata Rocio Adriana Villafuerte De la Cruz Ana Maria Cortes Rubio Mirelle Kramis Hollands Ivonne Natalia Flores Estrada Maria Luz Arenas Sordo |
| author_sort | Cesar Misael Cerecedo Zapata |
| collection | DOAJ |
| description | Introduction: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a neurologic disorder characterized by macrocephaly within the first year of life and the delayed onset of motor function deterioration with ataxia and spasticity. Magnetic resonance imaging of the brain is diagnostic and shows diffusely abnormal, mildly swollen cerebral white matter and subcortical cysts. MLC exhibits an autosomal recessive mode of inheritance. Two genes have been associated with MLC. The first and most important gene is MLC1, The other gene involved is HEPACAM.
Case Presentation: We studied a Mexican patient with a compatible diagnosis of MLC. The patient exhibited the c.353C > T, p.Thr118Met mutation, and both parents were carriers for the same mutation. To the best of our knowledge, no other cases of MLC have been reported in Mexican patient. This patient exhibited rapid deterioration of motor function.
Conclusions: A diagnosis of MLC, which can be facilitated by imaging studies, should be considered in all patients who exhibit global developmental delay. |
| first_indexed | 2024-12-11T19:40:22Z |
| format | Article |
| id | doaj.art-0f1bd738437a4c609c595f26f76a5165 |
| institution | Directory Open Access Journal |
| issn | 2322-4398 2322-4401 |
| language | English |
| last_indexed | 2024-12-11T19:40:22Z |
| publishDate | 2015-07-01 |
| publisher | Mazandaran University of Medical Sciences |
| record_format | Article |
| series | Journal of Pediatrics Review |
| spelling | doaj.art-0f1bd738437a4c609c595f26f76a51652022-12-22T00:53:01ZengMazandaran University of Medical SciencesJournal of Pediatrics Review2322-43982322-44012015-07-01325357Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical CystsCesar Misael Cerecedo Zapata0Rocio Adriana Villafuerte De la Cruz1Ana Maria Cortes Rubio2Mirelle Kramis Hollands3Ivonne Natalia Flores Estrada4Maria Luz Arenas Sordo5 Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico Department of Imaging, National Rehabilitation Institute, Mexico City, Mexico Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico Introduction: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a neurologic disorder characterized by macrocephaly within the first year of life and the delayed onset of motor function deterioration with ataxia and spasticity. Magnetic resonance imaging of the brain is diagnostic and shows diffusely abnormal, mildly swollen cerebral white matter and subcortical cysts. MLC exhibits an autosomal recessive mode of inheritance. Two genes have been associated with MLC. The first and most important gene is MLC1, The other gene involved is HEPACAM. Case Presentation: We studied a Mexican patient with a compatible diagnosis of MLC. The patient exhibited the c.353C > T, p.Thr118Met mutation, and both parents were carriers for the same mutation. To the best of our knowledge, no other cases of MLC have been reported in Mexican patient. This patient exhibited rapid deterioration of motor function. Conclusions: A diagnosis of MLC, which can be facilitated by imaging studies, should be considered in all patients who exhibit global developmental delay.http://jpr.mazums.ac.ir/browse.php?a_code=A-10-30-36&slc_lang=en&sid=1Global Developmental DelayMegalencephalic LeukoencephalopathyLeukoencephalopathySubcortical CystsVan der Knaap Disease |
| spellingShingle | Cesar Misael Cerecedo Zapata Rocio Adriana Villafuerte De la Cruz Ana Maria Cortes Rubio Mirelle Kramis Hollands Ivonne Natalia Flores Estrada Maria Luz Arenas Sordo Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts Journal of Pediatrics Review Global Developmental Delay Megalencephalic Leukoencephalopathy Leukoencephalopathy Subcortical Cysts Van der Knaap Disease |
| title | Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts |
| title_full | Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts |
| title_fullStr | Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts |
| title_full_unstemmed | Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts |
| title_short | Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts |
| title_sort | global developmental delay in a mexican patient with megalencephalic leukoencephalopathy with subcortical cysts |
| topic | Global Developmental Delay Megalencephalic Leukoencephalopathy Leukoencephalopathy Subcortical Cysts Van der Knaap Disease |
| url | http://jpr.mazums.ac.ir/browse.php?a_code=A-10-30-36&slc_lang=en&sid=1 |
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