Case Review Canavan Disease


New member
Dec 17, 2021
A 2-year-old girl with neurological retardation has normal height and weight, and her head circumference is above the 95th percentile. The patient, who cannot hold his head upright, has a hypotonic appearance, cannot sit and stand up. Besides, he can smile and communicate well with the environment. Brain MRI is taken for the patient, whose optic atrophy is detected in the eye examination.

Diffuse encephalopathy and NAA peak are observed in this brain MRI.

These findings are typical for Canavan disease.

There are a wide range of clinical features, but generally there is a progression from lethargy and hypotonia, to macrocephaly (due to underlying megalencephaly) and spasticity, to blindness and seizures, to decerebrate posturing and eventual death. In the vast majority of patients, clinical onset is in infancy with death before 5 years of age, and often before 18 months, but juvenile-onset forms of the disease have also been reported. Juvenile forms of intellectual impairment and speech regression