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Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
Author(s) -
del Toro Mireia,
Arranz José Antonio,
Macaya Alfons,
Riudor Encarnació,
Raspall Miquel,
Moreno Antonio,
Vazquez Elida,
Ortega Arancha,
Matsubara Yoichi,
Kure Shigeo,
Roig Manuel
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20887
Subject(s) - hyperglycinemia , leukoencephalopathy , medicine , pathological , encephalopathy , glycine cleavage system , pulmonary hypertension , pathology , pediatrics , gastroenterology , glycine , genetics , biology , disease , amino acid
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. Ann Neurol 2006;60:148–152

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