Affiliations: Department of Pediatrics, Division of Child Neurology,
Jordan University, Amman, Jordan | National Center for Diabetes, Endocrinology and
Genetics, Amman, Jordan
Note: [] Correspondence: Amira Masri, MD, Consultant Child Neurologist,
Assistant Professor of Child Neurology, Jordan University Hospital, P.O. Box
(1612 – code 11941), Amman, Jordan. Tel.: +962 777 77 09 19; E-mail:
[email protected]
Abstract: Canavan disease (CD) is a fatal, hereditary disorder of central
nervous system development that has been linked to mutations in the gene for
the enzyme aspartoacylase (ASPA) which leads to accumulation of N-acetyl
aspartic acid (NAA) in the brain with resultant leukodystrophy. CD is most
prevalent in people of Ashkenazi Jewish descent but has been observed in other
ethnic groups. Patients have severe mental retardation, poor head control,
macrocephaly, and seizures. We report a 3 months old male infant, the sixth
child of healthy consanguineous second cousins parents, presenting with poor
visual fixation poor response to sounds, axial and peripheral hypotonia, severe
head lag, and exaggerated deep tendon reflexes in the upper and lower limbs.
Family history revealed that the proband had four brothers and one sister with
severe global delay, poor visual fixation, poor response to sounds, spasticity,
poor head control and large heads. Urinary organic acids showed high levels of
NAA, and ASPA gene mutation analysis identified a rare mutation in exon 1 (G27
R). This is the first case of CD to be reported from Jordan. Organic acid
screening in urine for all infants with global delay and macrocephaly could
lead to the diagnosis of more cases of CD in Jordan with determination of the
most prevalent gene mutation and the designation of the relevant screening
test.
