DOI: 10.1097/01.pcc.0000449099.54845.61

,  

Issn Print: 1529-7535

Publication Date: 2014/05/01


Print

ABSTRACT 373: NEW MUTATIONS IN NDUFV1 ASSOCIATED WITH LEIGH SYNDROME

I. van den Heuvel; K. Masjosthusmann; T. Marquardt; M. Bauer; H. Omran; E. Rieger-Fackeldey

+ Author Information

Author Information: Department of general pediatrics, University Children’s Hospital, Muenster, Germany

    loading  Checking for direct PDF access through Ovid

Excerpt

Background and aims: Leigh syndrome, subacute necrotizing encephalomyelopathy, is a disorder of mitochondrial metabolism often presenting in early infancy with acute respiratory failure. It is characterized by a marked clinical and genetic heterogeneity, leading to considerable diagnostic challenges.
Aims: Prompt and exact diagnosis might help to prevent progression of disease in certain cases (1).
Methods: We describe a well documented case of a 20-month-old boy with a complex I deficiency, caused by novel mutations in the NDUFV1gen.
Results: This boy presented with acute respiratory failure for which he was intubated and ventilated. Several attempts at extubation did not succeed, a tracheostoma was inserted on which he recovered to self-ventilation during day time. He showed loss of milestones, central hyperthermia, seizures, tubular acidosis and typical lesions in pons, medulla oblongata and pedunculi, progressive over time, despite a trial of biotin, vitamin B1 and ketogenic diet. Lactate in plasma and liquor were not elevated. Muscle biopsy showed reduced enzyme activity of complex I. Exome sequencing revealed compound heterozygosity with three mutations in NDUFV1 gen (153 G>A, 640 G>A, 1105 C>T), two of them not previously described. The boy went home in the care of his parents.
Conclusions: Our case helps raise recognition of this severe disease. Exact genetic diagnosis might help to achieve a better phenotype-genotype relationship aiding in prognosis and therapeutic decisions (2).

Related Topics

    loading  Loading Related Articles