Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension.
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.
del Toro
Mireia
M
Secció de Neurologia Infantil, Barcelona, Spain.
Arranz
José Antonio
JA
Macaya
Alfons
A
Riudor
Encarnació
E
Raspall
Miquel
M
Moreno
Antonio
A
Vazquez
Elida
E
Ortega
Arancha
A
Matsubara
Yoichi
Y
Kure
Shigeo
S
Roig
Manuel
M
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
D005998:Glycine