Unusual case of phenylketonuria with atypical brain magnetic resonance imaging findings
Phenylketonuria is a treatable inborn error of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase, responsible for converting phenylalanine to tyrosine. We report a 10-month-old boy with psychomotor regression and infantile spasms. He was diagnosed with classic phenyl...
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| Main Authors: | , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2013
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| In: |
Journal of child neurology
Year: 2013, Volume: 28, Issue: 11, Pages: 1496-1499 |
| ISSN: | 1708-8283 |
| DOI: | 10.1177/0883073812457591 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1177/0883073812457591
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| Author Notes: | Conrado Medici, MD, Claudio Varacchi, MD, Gabriel Gonzalez, MD, Aida Lemes, MD, Alfredo Cerisola, MD, Virginia Pedemonte, MD, and Nenad Blau, PhD |
| Summary: | Phenylketonuria is a treatable inborn error of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase, responsible for converting phenylalanine to tyrosine. We report a 10-month-old boy with psychomotor regression and infantile spasms. He was diagnosed with classic phenylketonuria and West syndrome. Treatment was initiated with phenylalanine-restricted diet and vigabatrin. After 5 months of treatment, he persists with developmental delay, severe hypotonia, swallowing disorder, and drug-resistant epilepsy. Brain magnetic resonance imaging showed the typical abnormalities in supratentorial white matter and exceptional infratentorial and basal ganglia compromise. Severity of white matter abnormalities and neurologic symptoms correlates with blood levels of phenylalanine. Infratentorial changes occur in severe cases. Other mechanisms could take part in cases like this with atypical neuroimaging abnormalities of the basal ganglia. |
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| Item Description: | First published September 10, 2012 Gesehen am 09.07.2021 |
| Physical Description: | Online Resource |
| ISSN: | 1708-8283 |
| DOI: | 10.1177/0883073812457591 |