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A progressive leukodystrophy caused by spongy degeneration of the central nervous system. The clinical triad of hypotonia, macrocephaly, and lack of head control in an infant more than 3 to 5 months old is suspicious for this disorder.

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Canavan-Van Bogaert-Bertrand Disease; Canavan Sclerosis; Van-Bogaert-Bertrand Syndrome; Van-Bogaert-Bertrand Spongy Degeneration Syndrome; Cerebral White Matter Spongy Degeneration; Spongy Degeneration of the Nervous System; Familial Spongy Degeneration; Encephalopathia Spongiotica; Acetylaspartic Aciduria; Progressive Degenerative Subcortical Encephalopathy; Aminoacylase-2 Deficiency; ACY2 Deficiency; Aspartoacylase Deficiency.

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Although the disorder has been described in all ethnic groups, the highest incidence has been reported in Ashkenazi Jews, in whom it occurs in approximately 1:13,000 live births.

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Autosomal recessive. The disease is caused by mutations of the aspartoacylase gene, which has been mapped to 17pter-p13.

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Aspartoacylase deficiency leads to a buildup of N-acetylaspartate. This defect results in demyelination of the white matter of the internal and external capsule, corpus callosum, subcortical white matter, and posterior fossa.

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It is based on clinical features and the demonstration of significantly elevated N-acetylaspartate levels in urine, blood, cerebrospinal fluid, and the brain (detected by magnetic resonance spectroscopy). Neuroradiologic studies show white matter degeneration in affected areas. Brain histology shows spongy degeneration (unspecific), but is usually not required for the diagnosis. Electron microscopy reveals swelling of the astrocytes and abnormalities of the mitochondria. Cultured skin fibroblasts show reduced aspartoacylase activity.

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Three different forms of Canavan disease (CD) have been described (neonatal, infantile, and late-onset form). The infantile form seems to be the most common form, and only the rate of disease progression is highly variable. Onset is usually in early infancy at 2 to 4 months of age with loss of the already acquired milestones, while death occurs most often within the first decade of life (although death by approximately 18 months of age is not uncommon). However, survival into the teens has also been reported, and one patient survived for more than 30 years. Patients initially present with poor head control due to hypotonia or atonia of the neck muscles. Hypotonia soon becomes generalized and changes to spastic diplegia or quadriplegia as the disease progresses, ending in late decerebrate or decorticate posturing. Generalized seizures are common. Ocular features include optic atrophy, nystagmus, and finally blindness. Closure of the anterior fontanelle is delayed, and macrocephaly is a common finding. Patients usually are deaf. Copious oral secretions and gastroesophageal reflux can occur. No effective treatment is available. Therapies are mainly symptomatic (e.g., seizure control, physiotherapy). Gene therapies are currently under investigation.

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The patient's seizure control should be assessed and medications altered, if necessary. A chest radiograph is recommended if recurrent or recent aspiration is an issue. Consider premedication with a nonparticulate antacid, H2-antagonist, or proton pump inhibitor. Avoid antidopaminergic medications because they can exacerbate existing extrapyramidal movement disorders. Sedative and anxiolytic premedication and the presence of the primary caregiver during induction of ...

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