Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder

Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder

Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2‐related disorder presenting with cavitating and tigroid‐like pattern of...

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Veröffentlicht in:JIMD reports 2020-03, Vol.52 (1), p.11-16
Hauptverfasser: Alagia, Marianna, Cappuccio, Gerarda, Torella, Annalaura, D'Amico, Alessandra, Mazio, Federica, Romano, Alfonso, Fecarotta, Simona, Casari, Giorgio, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Format: Artikel
Sprache:eng
Schlagworte:
Age
Biopsy
Cardiomyopathy
Case Report
Case Reports
Child development
Cysts
Edema
Enzymes
leukodystrophy
Magnetic resonance imaging
mitochondrial
NDUFA2
Spectrum analysis
Standard scores
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Zusammenfassung:Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2‐related disorder presenting with cavitating and tigroid‐like pattern of leukodystrophy and without systemic biochemical abnormalities of mitochondrial disorders.
ISSN:2192-8312
2192-8304
2192-8312
DOI:10.1002/jmd2.12094