Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis
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Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis Katharina Wolf • Thomas Schmitt-Mechelke Spyridon Kollias • Armin Curt
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Received: 25 October 2012 / Revised: 3 December 2012 / Accepted: 24 December 2012 / Published online: 18 January 2013 Ó Springer-Verlag Berlin Heidelberg 2013
Abstract The term ‘‘acute transverse myelitis (ATM)’’ comprises various non-traumatic disorders that eventually can be associated with a focal myelopathy. Patients characteristically present with an acutely occurring paraparesis/ plegia and require a comprehensive and timely diagnostic work up for the initiation of an appropriate treatment. We present a case of a 36-year-old female patient with a rare genetic disorder (ANE1: Acute Necrotizing Encephalopathy due to a RANBP2 mutation) who presented with an acute quadriplegia. Following an acute pulmonal infection, she rapidly (\ 24 h) developed a severe quadriplegia (total motor score 38) with some facial sensory symptoms (perioral hypoesthesia). Magnetic resonance imaging (MRI) revealed a combination of longitudinal extensive transverse myelitis and symmetrical thalamic lesions. A work-up for infectious and systemic diseases was negative; specifically, no findings related to multiple sclerosis, neuromyelitis optica or vascular disorders. After empirical high dose steroid treatment and rehabilitation therapy, the patient gained almost normal gait and upper limb function. She was found to carry an autosomal-dominant missense mutation in the RANBP2 gene predisposing for ANE. Gene segregation was confirmed in other family members
K. Wolf (&) A. Curt Spinal Cord Injury Center, Balgrist University Hospital, Forchstr. 340, 8008 Zurich, Switzerland e-mail: [email protected] T. Schmitt-Mechelke Neuropediatric Department, Children’s Hospital, Lucerne, Switzerland S. Kollias Department of Neuroradiology, University Hospital, Zurich, Switzerland
that had been affected by other episodes of acute steroidresponsive encephalopathies. We propose that a redefined diagnostic workup of ATM might include ANE1, as the frequency of this rare disorder might be underestimated. Keywords Acute necrotizing encephalopathy Spinal cord injury Transverse myelopathy Transverse myelitis Acute disseminating encephalomyelitis
Introduction Acute transverse myelitis (ATM) is a rare cause of nontraumatic spinal cord injury (ntSCI) comprising a heterogeneous group of immune-mediated diseases. The typical clinical presentation is a non-traumatic paraplegia with an acute (frequently within hours) onset. The first documented use of the term ‘‘acute transverse myelitis’’ was by Miller and Ross in 1931, describing a case of acute quadriplegia in a child following measles with complete regaining of function on later follow-up [1]. Following this initial report, several publications focused on the topic of transverse myelitis—mainly in cases of acute post-vaccination or parainfectious paraplegia. These publications predominant
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