title: An unusual cause of peroneal neuropathy.
abstract: We discuss the case of a teenage girl who presented with neurologic symptoms suggestive of a peripheral neuropathy, before the development of a central arteriovenous fistula. Electromyography and nerve conduction studies indicated peroneal motor neuropathy, but her comprehensive genetic study results were negative for common Charcot-Marie-Tooth mutations. After 2 years of stable symptoms, she presented with unilateral throbbing headache and tinnitus. Magnetic resonance angiography revealed a carotid cavernous fistula, which was confirmed with conventional angiography. A successful coil embolization of the fistula was performed. Whole exome sequencing demonstrated a de novo heterozygous c.3158G>A (p.G1056D) mutation in the COL31A gene, consistent with Ehlers-Danlos type IV. To our knowledge, this is the first reported case of isolated peroneal motor neuropathy in a patient with Ehlers-Danlos type IV. This case highlights the utility of whole exome sequencing in the diagnosis of patients with neurologic symptoms that do not fit a clear phenotype.
authors.affiliation: Department of Neurology, Baylor College of Medicine, Houston, TX. Electronic address: ananth@bcm.edu.
authors.forename: Amitha L
authors.initials: AL
authors.lastname: Ananth
authors.affiliation: Department of Genetics, Baylor College of Medicine, Houston, TX.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Genetics, Baylor College of Medicine, Houston, TX.
authors.forename: Seema R
authors.initials: SR
authors.lastname: Lalani
authors.affiliation: Department of Neurology, Baylor College of Medicine, Houston, TX.
authors.forename: Timothy B
authors.initials: TB
authors.lastname: Lotze
mesh_terms: D000293:Adolescent; D020216:Carotid-Cavernous Sinus Fistula / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D002533:Cerebral Angiography; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007866:Leg / Q000473:pathology; D018810:Magnetic Resonance Angiography; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000473:pathology