Rick H. G. J. van Lanen MD, MSc, Jasper van Aalst MD, PhD, Mariël P. Ter Laak-Poort MD, PhD
<p>A 41-year-old female was referred to the neurosurgery outpatient clinic with progressive bipyramidal syndrome. Medical history included premature birth and prior intraventricular hemorrhage with hydrocephalus. Ventricular-peritoneal (VP) shunting was performed in the management of hydrocephalus. However, complications related to over-drainage, along with hyperostosis of the skull and craniosynostosis, caused scaphocephaly.</p><p>Over the course of several months, she experienced progressive difficulties walking and developed right-sided weakness. Neurological examination revealed right-sided hemiparesis, hyperreflexia, and bilateral Babinski's sign. Imaging of the brain and cervical spine (Fig 1) showed scaphocephaly with slit-like ventricles and myelopathy extending from the C1 to C3 levels, along with the presence of spinal epidural venous engorgement. In the absence of a diagnosis, she was placed under long-term follow-up care by her neurologist. Follow-up magnetic resonance imaging (MRI) of the cervical spine revealed progressive myelopathy, before the diagnosis of Miyazaki syndrome was made. She underwent VP-shunt revision, with implantation of a Miethke proGAV 2.0 0-20/20 (programmable valve pressure setting 8). Outpatient clinic follow-up at 6 months showed stabilization of the bipyramidal symptoms. Follow-up MRI showed improvement of the epidural venous engorgement.</p><p>Miyazaki syndrome arises as a complication of cerebrospinal fluid (CSF) hypotension caused by excessive drainage through VP-shunting. Although CSF hypotension is often associated with well-known symptoms, like orthostatic headache and cranial nerve palsies, the development of epidural venous engorgement leading to spinal cord compression is a less common but critical manifestation.</p><p>The syndrome is characterized by cervical myelopathy or radiculopathy due to cervical epidural venous congestion, results from complex pathophysiological mechanisms.<span><sup>1, 2</sup></span> These include changes in CSF pressure, consistent with the Monro-Kellie doctrine, and dysfunction in the Starling resistor, leading to the enlargement and dilation of the spinal epidural venous plexus.<span><sup>1</sup></span> Venous congestion can lead to spinal cord or nerve roots compression or circulation hampering,<span><sup>1</sup></span> causing neurological symptoms, whereas presenting a unique diagnostic challenge. One of the striking features of Miyazaki syndrome is that it can manifest without the typical symptom of orthostatic headache, which is commonly associated with CSF hypotension. Instead, patients with Miyazaki syndrome may develop myelopathy symptoms slowly over time, making it challenging to diagnose, potentially leading to misdiagnosis.<span><sup>3</sup></span> This underlines the importance of considering Miyazaki syndrome in the differential diagnosis of patients with VP-shunts who present with myelopathy but do not experience headaches. Timely recognition is crucial and
{"title":"Miyazaki Syndrome as a Complication of Shunt Drainage","authors":"Rick H. G. J. van Lanen MD, MSc, Jasper van Aalst MD, PhD, Mariël P. Ter Laak-Poort MD, PhD","doi":"10.1002/ana.27067","DOIUrl":"10.1002/ana.27067","url":null,"abstract":"<p>A 41-year-old female was referred to the neurosurgery outpatient clinic with progressive bipyramidal syndrome. Medical history included premature birth and prior intraventricular hemorrhage with hydrocephalus. Ventricular-peritoneal (VP) shunting was performed in the management of hydrocephalus. However, complications related to over-drainage, along with hyperostosis of the skull and craniosynostosis, caused scaphocephaly.</p><p>Over the course of several months, she experienced progressive difficulties walking and developed right-sided weakness. Neurological examination revealed right-sided hemiparesis, hyperreflexia, and bilateral Babinski's sign. Imaging of the brain and cervical spine (Fig 1) showed scaphocephaly with slit-like ventricles and myelopathy extending from the C1 to C3 levels, along with the presence of spinal epidural venous engorgement. In the absence of a diagnosis, she was placed under long-term follow-up care by her neurologist. Follow-up magnetic resonance imaging (MRI) of the cervical spine revealed progressive myelopathy, before the diagnosis of Miyazaki syndrome was made. She underwent VP-shunt revision, with implantation of a Miethke proGAV 2.0 0-20/20 (programmable valve pressure setting 8). Outpatient clinic follow-up at 6 months showed stabilization of the bipyramidal symptoms. Follow-up MRI showed improvement of the epidural venous engorgement.</p><p>Miyazaki syndrome arises as a complication of cerebrospinal fluid (CSF) hypotension caused by excessive drainage through VP-shunting. Although CSF hypotension is often associated with well-known symptoms, like orthostatic headache and cranial nerve palsies, the development of epidural venous engorgement leading to spinal cord compression is a less common but critical manifestation.</p><p>The syndrome is characterized by cervical myelopathy or radiculopathy due to cervical epidural venous congestion, results from complex pathophysiological mechanisms.<span><sup>1, 2</sup></span> These include changes in CSF pressure, consistent with the Monro-Kellie doctrine, and dysfunction in the Starling resistor, leading to the enlargement and dilation of the spinal epidural venous plexus.<span><sup>1</sup></span> Venous congestion can lead to spinal cord or nerve roots compression or circulation hampering,<span><sup>1</sup></span> causing neurological symptoms, whereas presenting a unique diagnostic challenge. One of the striking features of Miyazaki syndrome is that it can manifest without the typical symptom of orthostatic headache, which is commonly associated with CSF hypotension. Instead, patients with Miyazaki syndrome may develop myelopathy symptoms slowly over time, making it challenging to diagnose, potentially leading to misdiagnosis.<span><sup>3</sup></span> This underlines the importance of considering Miyazaki syndrome in the differential diagnosis of patients with VP-shunts who present with myelopathy but do not experience headaches. Timely recognition is crucial and","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"96 6","pages":"1230-1231"},"PeriodicalIF":8.1,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27067","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142071516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Simon Witzel MD, André Huss PhD, Gabriele Nagel MD, Angela Rosenbohm MD, Dietrich Rothenbacher MD, Raphael S. Peter PhD, Hansjörg Bäzner MD, Axel Börtlein MD, Silke Dempewolf MD, Martin Schabet MD, Martin Hecht MD, Andreas Kohler MD, Christian Opherk MD, Andrea Naegele MD, Norbert Sommer MD, Alfred Lindner MD, Christoforos Alexudis, Franziska Bachhuber PhD, Steffen Halbgebauer PhD, David Brenner MD, Wolfgang Ruf MD, Ulrike Weiland MD, Benjamin Mayer PhD, Joachim Schuster PhD, Johannes Dorst MD, Hayrettin Tumani MD, Albert C. Ludolph MD, and the ALS Registry Swabia Study Group