Neurologic Abnormalities in Patients with Adenosine Deaminase Deficiency

Defects in adenosine deaminase enzyme cause severe immunodeficiency. Without enzyme replacement or allogeneic bone marrow transplantation, patients often suffer fatal infection in infancy. Adenosine deaminase is expressed ubiquitously; deficiency may affect various organs, including the brain. Neuro...

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Bibliographic Details
Published in:Pediatric neurology 2007-09, Vol.37 (3), p.218-221
Main Authors: Nofech-Mozes, Yehuda, MD, Blaser, Susan I., MD, Kobayashi, Jeff, MD, Grunebaum, Eyal, MD, Roifman, Chaim M., MD
Format: Article
Language:English
Subjects:
Adenosine Deaminase - deficiency
Biological and medical sciences
Brain - diagnostic imaging
Brain - pathology
Developmental Disabilities - diagnostic imaging
Developmental Disabilities - etiology
Developmental Disabilities - pathology
Humans
Infant
Injuries of the nervous system and the skull. Diseases due to physical agents
Male
Medical sciences
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Nervous System Diseases - diagnostic imaging
Nervous System Diseases - etiology
Nervous System Diseases - pathology
Neurology
Pediatrics
Radiography
Traumas. Diseases due to physical agents
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Summary:Defects in adenosine deaminase enzyme cause severe immunodeficiency. Without enzyme replacement or allogeneic bone marrow transplantation, patients often suffer fatal infection in infancy. Adenosine deaminase is expressed ubiquitously; deficiency may affect various organs, including the brain. Neurologic abnormalities occur in some adenosine deaminase-deficient patients, mostly in association with infection or after bone marrow transplantation. Three cases with significant neurologic abnormalities, including hypotonia, head lag, nystagmus, difficulty in focusing gaze, seizure disorder, and moderate-severe developmental delay but with no evidence of infection or transplant-related medication toxicity are presented. Computed tomographic scans and cranial MRI revealed volume loss and abnormalities of basal ganglia and thalamus, which may reflect accelerated nerve cell death or altered stimulation of adenosine receptors. Detailed neurologic and neuroimaging evaluation should be performed for all patients with adenosine deaminase deficiency upon diagnosis, to identify potentially significant brain lesions.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2007.03.011