Phrenic Nerve Involvement in Déjérine-Sottas Disease: A Clinicopathological Case Study

Abstract

We present the clinical and pathological data on a 12-year-old girl with Déjérine-Sottas disease who died suddenly in her sleep following the onset of mild flulike symptoms. The autopsy revealed diffuse and severe axonal loss with prominent onion bulbs in all nerves including the phrenic nerve. Early changes of pneumonia and bronchiolitis were evident in the lungs. To our knowledge, this is the first clinicopathological description of phrenic nerve involvement in Déjérine-Sottas disease.

Key Words:

• hereditary neuropathy
• Déjérine-Sottas disease
• respiratory disorder