OBJECTIVE: Our aim was to describe a child with an incomplete form of Kearns-Sayre syndrome who presented profound cerebrospinal fluid (CSF) folate deficiency and his response to folinic acid supplementation METHODS: CSF 5-methyltetrahydrofolate was analyzed by HPLC with fluorescence detection and mitochondrial DNA deletions by southern blot hybridization. RESULTS: Cranial magnetic resonance imaging showed a leukoencephalopathy. Profound CSF 5-methyltetrahydrofolate deficiency was observed with normal blood folate values and decreased CSF/serum folate ratio, suggesting a transport defect across the blood-brain barrier. Folinic acid treatment was established, and after 1 year clinical response to folinic supplementation was remarkable, with almost normal white matter image. INTERPRETATION: The clinical response after folinic therapy highlights the need for the study of cerebral folate deficiency in patients with mitochondrial disorders and white matter lesions.
OBJECTIVE: Our aim was to describe a child with an incomplete form of Kearns-Sayre syndrome who presented profound cerebrospinal fluid (CSF) folatedeficiency and his response to folinic acid supplementation METHODS: CSF 5-methyltetrahydrofolate was analyzed by HPLC with fluorescence detection and mitochondrial DNA deletions by southern blot hybridization. RESULTS: Cranial magnetic resonance imaging showed a leukoencephalopathy. Profound CSF 5-methyltetrahydrofolatedeficiency was observed with normal blood folate values and decreased CSF/serum folate ratio, suggesting a transport defect across the blood-brain barrier. Folinic acid treatment was established, and after 1 year clinical response to folinic supplementation was remarkable, with almost normal white matter image. INTERPRETATION: The clinical response after folinic therapy highlights the need for the study of cerebral folate deficiency in patients with mitochondrial disorders and white matter lesions.
Authors: Adam J Kuszak; Michael Graham Espey; Marni J Falk; Marissa A Holmbeck; Giovanni Manfredi; Gerald S Shadel; Hilary J Vernon; Zarazuela Zolkipli-Cunningham Journal: Annu Rev Pathol Date: 2017-11-03 Impact factor: 23.472
Authors: Paolo Moretti; Sarika U Peters; Daniela Del Gaudio; Trilochan Sahoo; Keith Hyland; Teodoro Bottiglieri; Robert J Hopkin; Elizabeth Peach; Sang Hee Min; David Goldman; Benjamin Roa; Carlos A Bacino; Fernando Scaglia Journal: J Autism Dev Disord Date: 2007-11-20