Canavan disease in a patient of African origin

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

Canavan disease in a patient of African origin

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

College of Medicine and Health Sciences

Miami Children's Hospital

Research output: Contribution to journal › Article › peer-review

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 language	British English
Pages (from-to)	111-113
Number of pages	3
Journal	International Pediatrics
Volume	14
Issue number	2
State	Published - 1999

Keywords

African origin
Canavan disease
Delayed myelinization pattern
Leukodystrophy

Cite this

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title = "Canavan disease in a patient of African origin",

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.",

keywords = "African origin, Canavan disease, Delayed myelinization pattern, Leukodystrophy",

author = "Annette Perea and Keith Meyer and {Cesar Paez}, Julio and Karina Yelin and Birchansky, {Sherri B.} and Parul Jayakar and Israel Alfonso",

year = "1999",

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T1 - Canavan disease in a patient of African origin

AU - Perea, Annette

AU - Meyer, Keith

AU - Cesar Paez, Julio

AU - Yelin, Karina

AU - Birchansky, Sherri B.

AU - Jayakar, Parul

AU - Alfonso, Israel

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

KW - African origin

KW - Canavan disease

KW - Delayed myelinization pattern

KW - Leukodystrophy

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M3 - Article

AN - SCOPUS:0033303651

SN - 0885-6265

VL - 14

SP - 111

EP - 113

JO - International Pediatrics

JF - International Pediatrics

IS - 2

ER -

Canavan disease in a patient of African origin

Abstract

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