Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (Variant of phenylketonuria)

Reiji Sugita, Shoki Takahashi, Kiyoshi Ishii, Ko Matsumoto, Tadashi Ishibashi, Kiyohiko Sakamoto, Kuniaki Narisawa

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Two siblings with malignant hyperphenylalaninemia were examined by magnetic resonance (MR) imaging and CT of the brain. Both techniques demonstrated diffuse cerebral atrophy and cystic loss of parenchyma with surrounding white matter changes. T2-weighted MR images demonstrated the white matter changes better than CT. However, MR images gave no definite indication of the presence of calcification, and CT demonstrated the characteristic calcifications in the basal ganglia and subcortical region bilaterally. Both MR and CT are complementary in the evaluation of this disease.

Original languageEnglish
Pages (from-to)699-703
Number of pages5
JournalJournal of Computer Assisted Tomography
Volume14
Issue number5
DOIs
Publication statusPublished - 1990 Jan 1

Keywords

  • Brain
  • Computed tomography
  • Diseases
  • Hyperphenylalaninemia
  • Magnetic resonance imaging
  • Phenylketonuria

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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