title: Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension.
abstract: To report two unrelated patients with a new phenotype of nonketotic hyperglycinemia associated with idiopathic pulmonary hypertension. Clinical findings included rapidly progressive neurological deterioration with onset in the first year of life characterized by developmental regression without seizures or electroencephalogram abnormalities during follow-up. Both patients died before the age of 18 months. Glycine cleavage system deficiency was confirmed by enzymatic studies in frozen liver. Molecular analysis in the related genes showed no pathogenic mutation. Radiological and pathological findings were consistent with progressive vacuolating encephalopathy. Our patients with biochemical and enzymatic parameters consistent with atypical nonketotic hyperglycinemia. The clinical and radiological evolution, as progressive vacuolating leukoencephalopathy and the association with pulmonary hypertension constitute a previously unrecognized variant.
authors.affiliation: Secció de Neurologia Infantil, Barcelona, Spain.
authors.forename: Mireia
authors.initials: M
authors.lastname: del Toro
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Arranz
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
authors.forename: Encarnació
authors.initials: E
authors.lastname: Riudor
authors.forename: Miquel
authors.initials: M
authors.lastname: Raspall
authors.forename: Antonio
authors.initials: A
authors.lastname: Moreno
authors.forename: Elida
authors.initials: E
authors.lastname: Vazquez
authors.forename: Arancha
authors.initials: A
authors.lastname: Ortega
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Matsubara
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
authors.forename: Manuel
authors.initials: M
authors.lastname: Roig
mesh_terms: D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005998:Glycine / Q000378:metabolism; D006801:Humans; D006944:Hyperglycemic Hyperosmolar Nonketotic Coma / Q000150:complications* / Q000473:pathology*; D006976:Hypertension, Pulmonary / Q000150:complications*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D014617:Vacuoles / Q000378:metabolism / Q000473:pathology
chemical_list: D005998:Glycine