Canavan disease in a patient of African origin

Annette Perea, Keith Meyer, Julio Cesar Paez, Karina Yelin, Sherri B. Birchansky, Parul Jayakar, Israel Alfonso

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

This patient is the second case of Canavan disease in a patient of African origin in 226 reported cases. A 7-month-old patient of African origin presented with neurological signs suggestive of leukodystrophy and macrocephaly. A magnetic resonance imaging (MRI) study at 4 weeks of age revealed delayed myelinization pattern. A second MRI study done at 6 months of age revealed significant U fibers involvement and swollen gyri in addition to a delayed myelinization pattern. The diagnosis of Canavan syndrome was confirmed by demonstrating a marked elevation of N-acetylaspartic acid in urine. The purpose of this report is to recommend that Canavan syndrome be considered in the differential diagnosis of leukodystrophy in patients of African origin.

Original languageEnglish (US)
Pages (from-to)111-113
Number of pages3
JournalInternational Pediatrics
Volume14
Issue number2
StatePublished - Dec 1 1999

Keywords

  • African origin
  • Canavan disease
  • Delayed myelinization pattern
  • Leukodystrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Canavan disease in a patient of African origin'. Together they form a unique fingerprint.

  • Cite this

    Perea, A., Meyer, K., Cesar Paez, J., Yelin, K., Birchansky, S. B., Jayakar, P., & Alfonso, I. (1999). Canavan disease in a patient of African origin. International Pediatrics, 14(2), 111-113.