E75.27
BillablePelizaeus-Merzbacher disease
HCC Category Mapping
RxHCCHCC 41 — Lysosomal Storage Disorders
0.000What This Code Means
A rare inherited neurological disorder affecting the development and maintenance of myelin (the protective coating around nerve fibers), causing progressive weakness and loss of motor control.
Coding Tips
- •Document the specific type: classic, connatal, or transitional form to support medical necessity
- •Link to associated neurological complications such as spasticity or developmental delays
Clinical Significance
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating disorder caused by PLP1 gene mutations affecting proteolipid protein production, which is essential for myelin formation. Unlike demyelinating leukodystrophies, myelin is never properly formed. Patients develop nystagmus, spasticity, ataxia, and cognitive impairment. The classic form allows survival into adulthood, while the connatal form is more severe with limited life expectancy.
Documentation Requirements
- ✓Confirmed diagnosis of Pelizaeus-Merzbacher disease
- ✓PLP1 gene mutation analysis (duplications, point mutations, or deletions)
- ✓Brain MRI showing diffuse hypomyelination pattern
- ✓Form specification: classic (Type I), connatal (Type II), or transitional
- ✓Neurological assessment including nystagmus, spasticity, and developmental status
- ✓X-linked inheritance pattern documentation and family history
Commonly Confused Codes
E75.25 — Metachromatic leukodystrophy: a demyelinating disorder (myelin is formed then destroyed), not hypomyelinatingE75.23 — Krabbe disease: demyelinating leukodystrophy with different pathogenesisE75.28 — Canavan disease: different leukodystrophy with spongy degenerationG37.0 — Diffuse sclerosis of central nervous system: acquired demyelination, not genetic hypomyelinationG11.1 — Early-onset cerebellar ataxia: ataxia is a feature of PMD, not the primary diagnosis
Code Hierarchy
└E75Disorders of sphingolipid metabolism and other lipid storage disorders└E75.2Other sphingolipidosis└E75.27Pelizaeus-Merzbacher disease
└E75.27Pelizaeus-Merzbacher disease