Neurology & Pain Management Coding Alert

Question: What is the correct diagnosis code for code for CACH syndrome?

Missouri Subscriber

Answer: CACH is an acronym for a rare syndrome deciphered as "childhood ataxia and cerebral hypomyelination." Although it is an infrequent disorder, it is believed to be one of the most common inherited diseases that affect the brain white matter.

CACH syndrome is characterized by ataxia, spasticity and variable optic atrophy. It is also known as leukodystrophy or vanishing white matter disease. Leukodystrophy refers to a group of disorders characterized by progressive degeneration of the white matter of the brain.

Assigning a diagnosis for CACH is tricky because ICD- 9 does not include a specific code for the syndrome. Section I of the ICD-9 Guidelines direct coders to "Follow the Alphabetic Index guidance when coding syndromes.In the absence of index guidance, assign codes for the documented manifestations of the syndrome."

Your best option might be to review with your neurologist the following ICD-9 codes: 334.2 (Primary cerebellar degeneration) for the familial / hereditary ataxia and 334.1 (Hereditary spastic paraplegia), 377.1x (Optic atrophy), and/or 330.0 (Leukodystrophy). When combined, the codes seem to encompass the potential manifestations of the syndrome.