Disclosures: Hieu M. Pham, MD: No financial relationships or conflicts of interest

Case Description: The patient was admitted to a pediatric inpatient rehab unit after acute care stay following diagnosis of GBS/acute inflammatory demyelinating polyneuropathy (GBS/AIDP) based on typical MRI and CSF findings. Initial treatment with two rounds of Intravenous Immunoglobulin (IVIG) was given. He was found to have clinical signs and symptoms that long preceded his GBS. This included slowly progressive motor symptoms with an abnormal gait pattern since childhood that consisted of toe walking, pes cavus and hammertoe deformities, distal muscle atrophy of his intrinsic hand and foot muscles, and multiple sensory deficits. Family history was significant for pes cavus in father and maternal grandmother. Clinical suspicion for underlying Charcot Marie Tooth (CMT) was raised. EMG/NCS studies showed typical findings for a chronic peripheral polyneuropathy. Commercial gene panel testing revealed two Variants of Undetermined Significance (VUS) in SCN10a, which is usually associated with an autosomal dominant small-fiber neuropathy. Repeat IVIG treatments and oral steroids were required for recurrent symptoms prior to improvement and discharge.

Setting: Pediatric Inpatient Rehabilitation Facility

Patient: 15-year old male with GBS/AIDP superimposed on previously undiagnosed CMT-like neuropathic condition Assessment/

Results: The patient successfully recovered from his GBS/AIDP and began a comprehensive rehabilitation program focusing on interventions for CMT, which included proximal strengthening, stretching exercises, and changing from solid to custom articulating AFOs for gait as partial dorsiflexion activity returned.

Discussion: It is believed that CMT may predispose to GBS/AIDP, and some forms may mimic CIDP. However, only about a dozen previous case reports of GBS with underlying CMT have been previously published. We are not aware of any cases which were undiagnosed on presentation.

Conclusion: Careful clinical and laboratory evaluation must be taken into account when clinical presentation points more towards an underlying inherited polyneuropathy rather than a purely acute onset of motor and sensory neuropathy. Improvement with intensified treatment is still possible.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/guillain-barre-syndrome-in-an-adolescent-patient-with-prior-charcot-marie-tooth-like-presentation-and-possible-scn10a-related-neuropathy-a-case-report/