Disease Information for Canavan disease

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Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Hyperextensable Joints Infant
Feeding/swallowing difficulties/infant
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Head Lag Infant Sign
Hypertonia
Hypotonia
Mouth Hangs Open Infant
Muscle stiffness/rigidity
Muscles Soft/Doughy Infant
Neck weakness/head nodding
Rolling Over Delay Infant
Active reflexes
CNS symptoms/signs
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Head Neck Floppy Infant Hypotonia Sign
Hyperreflexia/DTRs increased
Idiocy/signs
Infant Head Support Delay
Infant/loss of head control
Mental Deficiency Child
Mental/motor retardation in children/signs
Progressive macrocephaly/infant/sign
Reversed/perverse sleep pattern/rhythm
Shallow Breathing Infant
Psychomotor retardation
Macrocephaly/Large head
Megalocephaly
Skull/head enlargement
Bilateral Vision Loss
Visual Problems
Typical Clinical Presentation
Presentation/Death in childhood
Presentation/Progressive Neurologic disorder Infants
Clinical Presentation & Variations
Presentation/Acute encephalopathy Child
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive
Onset/Six months
Demographics & Risk Factors
Ethnic or Racial Factors
Ashkenasi Jewish population
Jewish population
Saudi Arabian population
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
Pathology
PATH/CNS Deep cortical vacuolization
PATH/CNS glial/myelin water accumulation/Pathophysiology
PATH/CNS involvement/pathology specimen
PATH/Spongioform degeneration CNS
PATH/Subcortical CNS process/lesion
CT Scan
CT Scan/Head Cortical atrophy
Associated Diseases & Rule outs
Associated Disease & Complications
Blindness
Blindness in Children
Blindness, central
Cerebral cortical atrophy
Cortical blindness
Developmental neurologic degeneration/child
Hydrocephalus, chronic acquired
Leukodystrophy
Megaloencephaly
Mental retardation
Neonatal Hypotonia/Floppy Baby Syndrome
Akinetic Rigid Syndrome
Demyelinating Disease
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Brain/CNS disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Single gene locus indentified
Pathophysiology/CNS degeneration
Pathophysiology/Demyelination
Pathophysiology/Neurologic degenerative disorder (ex)
Pathophysiology/Spongy degeneration of neuraxis/process
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/CNS/White matter disorder (ex)
PROCESS/Developmental degenerative neurological disorder (ex)
PROCESS/Leukodystrophy process (ex)
PROCESS/Myelin involvement/disorder (ex)
Synonyms
Synonym
ACY2 DEFICIENCY, AMINOACYLASE 2 DEFICIENCY, ASP DEFICIENCY, ASPA DEFICIENCY, Aspartoacylase deficiency, Aspartoacylase Deficiency Disease, Aspartoacylase Deficiency Diseases, Bogaert Bertrand Disease Canavan van, BRAIN FAMILIAL SPONGY DEGENERATION, Canavan, CANAVAN DIS, Canavan Disease, Canavan van Bogaert Bertr dis, CANAVAN VAN BOGAERT BERTRAND DIS, Canavan van Bogaert Bertrand Disease, Canavan's disease, Cavanan van Bogaert Bertrand disease, DEFIC DIS ASPARTOACYLASE, Deficiency Disease Aspartoacylase, Deficiency Diseases Aspartoacylase, Disease Aspartoacylase Deficiency, Diseases Aspartoacylase Deficiency, FAMILIAL IDIOCY WITH SPONGY DEGNERATION OF NEURAXIS, Leukodystrophies Spongiform, Leukodystrophy Spongiform, Spongiform leucodystrophy, Spongiform Leukodystrophies, Spongiform Leukodystrophy, Spongy degen white mttr in inf, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system (disorder), Spongy Degeneration of Infancy, Spongy degeneration of white matter, Spongy degeneration of white matter in infancy, SPONGY DIS CNS, SPONGY DIS WHITE MATTER, Spongy Disease of Central Nervous System, Spongy Disease of White Matter, VAN BOGAERT BERTRAND SYNDROME, von Bogaert Bertrand disease, Synonym/Brain, spongy degeneration, familial, Synonym/Familial idiocy with spongy degeneration, Synonym/Spongy degeneration cerebral white matter, Synonym/Van Bogaert-Bertrand syndrome
Definition

A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance; Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes; Inheritance may be autosomal recessive or the illness may occur sporadically; This illness occurs more frequently in individuals of Ashkenazic Jewish descent; The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death; The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly; The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al, Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)-----------------------------------------------------------------------

NINDS Canavan Disease :Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (floppiness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25%) chance with each pregnancy that the child will be affected with Canavan disease.

[WHONAMEDIT.COM 2005]

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