An unusual “central” presentation of a peripheral nerve disorder

The patient is a 10-year-old male who presented with difficulties in speech articulation, balance and coordination in the setting of viral gastroenteritis. Patient had two prior hospitalizations for transient neurologic symptoms in the setting of fever at age 2 years and 6 years. At those times, he was diagnosed with febrile status epilepticus and acute disseminated encephalomyelitis (ADEM) respectively. Between these episodes and the current presentation, the patient had above average school performance and multiple documented neurologic exams remarkable only for trace deep tendon reflexes at patella bilaterally and decreased vibratory sensation in toes. He had extensive metabolic/mitochondrial workup after his second presentation that was unremarkable. Labs including CBC, CMP, lactate, ammonia and CK drawn on current presentation were also unremarkable. MR imaging during all hospitalizations demonstrated unusual, abnormal findings that included extensive bilateral, confluent, posteriorly-predominant white matter T2/flair hyperintensities and DWI/ADC changes with prominent involvement of the splenium of corpus callosum. MR imaging when patient was asymptomatic revealed resolution of the DWI/ADC changes and mild residual T2/FLAIR changes. A careful medical history during the current hospitalization unfolded a history of flat feet with frequent tripping and foot pain for months prior to his acute presentation. Exam was notable for acute changes in quality of speech, balance, and coordination which localized to the central nervous system along with previously noted diminished vibratory sensation, decreased knee/ankle reflexes and newly appreciated distal foot weakness that was localizable to the peripheral nervous system. During the course of hospitalization, central nervous system symptoms resolved but peripheral nervous system symptoms persisted. The patient underwent an EMG/nerve conduction study that revealed a length dependent predominantly demyelinating sensorimotor polyneuropathy with motor unit remodelling. Upon discussion of these results with the patient’s family, it was revealed that two of the maternal uncles were suspected of having Charcot Marie Tooth. Discussion: This patient’s case demonstrates a rare presentation of Charcot-Marie-Tooth presenting with stroke-like episodes. Rare cases of x-linked Charcot-Marie-Tooth (CMTX1) presenting with stroke-like episodes have been described in the literature. CMTX1 is caused by a pathogenic variant in GJB1 which encodes the Cx32 protein. The Cx32 protein is expressed in both Schwann cells in the PNS and oligodendrocytes in the CNS, which may be the reason why patients can have both CNS and PNS involvement of their disease. Given the associated cases in the literature and the likely x-linked inheritance of the disease in our patient, GJB1 gene sequencing and deletion/duplication testing was sent and is pending at the time of abstract submission.