E75.29

Applicable To

• Farber’s syndrome

• Sulfatide lipidosis

Approximate Synonyms

• Canavan disease

• Leukodystrophy

• Pelizaeus merzbacher disease

• Spongy degeneration of central nervous system

Clinical Information

• An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase a. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.

• An autosomal recessive metabolic disease caused by a deficiency of cerebroside-sulfatase leading to intralysosomal accumulation of cerebroside sulfate sulfoglycosphingolipids) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the glial cells. There are several allelic and nonallelic forms with a variety of neurological symptoms.

• Autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs.

Details

• E75.29 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E75.29 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E75.29 – other international versions of ICD-10 E75.29 may differ.