{"id":9538,"date":"2025-11-26T20:21:41","date_gmt":"2025-11-26T16:21:41","guid":{"rendered":"https:\/\/medscriptum.org\/?p=9538"},"modified":"2025-11-26T20:21:59","modified_gmt":"2025-11-26T16:21:59","slug":"spinal-infarction-and-rare-causes-management-in-conditions-of-scarce-evidence","status":"publish","type":"post","link":"https:\/\/medscriptum.org\/en\/spinal-infarction-and-rare-causes-management-in-conditions-of-scarce-evidence\/","title":{"rendered":"Spinal Infarction and Rare Causes: Management in Conditions of Scarce Evidence"},"content":{"rendered":"

Neuromedicine is a field of constant change and crucial challenges, where every diagnosis, especially in the case of rare diseases, requires maximum caution and knowledge from the clinician. This is when sharing critical experiences becomes essential, to improve the outcome for more patients through correct and timely diagnosis. Clinical signs sometimes overlap between pathologies, making multimodal assessment vitally important. This is achieved by the combined use of several different diagnostic methods, instruments, and clinical information, as stated in the report of Professor Maia Beridze at the GAMS<\/a>-organized conference. She introduced the audience to the rare etiologies of spinal infarction along with an interesting clinical case.<\/p>\n

In an interview with Medscriptum, Professor Maia Beridze discusses the criteria to consider during differential diagnosis and shares her experience on what helped her successfully recognize a rare disease.<\/p>\n

Given that the clinical manifestation of spinal stroke is often non-specific and difficult to distinguish from other myelopathies, how should a diagnostic algorithm be developed to help clinicians make an effective differential diagnosis?<\/em><\/p>\n

Spinal stroke resembles other myelopathies because the blood circulation of the spinal cord is quite specific: the anterior spinal artery supplies the anterior horns, which is why soft paralyses develop during a stroke. This is the first manifestation of spinal stroke, and it is very similar to the acute phase of myelopathies. In spinal stroke, soft paralysis is followed by spasticity (stiffness), and that is why their differentiation in the acute phase is extremely difficult, as the clinical picture and signs are very similar. Therefore, meticulously collecting the patient history, accurate identification of clinical signs, and, clearly, radiological studies and cerebrospinal fluid analysis are critically important. Only the summation of this data together allows for a diagnosis to be formed. This precise diagnosis is of immense importance in determining whether it is ischemia or myelopathy, as the correctness of treatment and prevention depends on it.<\/p>\n

You discussed rare etiologies and presented the case of Fabry disease, which goes beyond the standard differential “diagnostic framework” and may be overlooked by the clinician. In your specific case, what was the critical clinical\/paraclinical clue that ultimately led you to this diagnosis?<\/em><\/p>\n

Spinal strokes are most often found during spinal cord trauma. Clearly, in the case of trauma, decompression is performed without much thought, and treatment continues according to the residual effects.<\/p>\n

However, the picture is completely different when we talk about congenital vascular pathologies. We must consider that there are many genetic hereditary diseases that cause coagulopathies and the formation of thrombi in blood vessels. In such cases, we are not dealing with ordinary atherosclerotic damage, but with another causative pathology formed in the blood vessels.<\/p>\n

One such rare nosology is a lysosomal storage disorder, which was discussed today, specifically Fabry disease. This disease means that the body is unable to normally break down fats due to a mutation in the alpha-galactosidase A enzyme. As a result, pathological fats, globotriaosylceramide (GL3), accumulate in the lysosomes, damaging not only the spinal cord region but all cells. Ultimately, distinguishing Fabry disease from spinal ischemia and other autoimmune myelopathies (Multiple Sclerosis, Devic’s disease, Sj\u00f6gren’s syndrome) is very difficult because their clinical manifestation patterns are similar. Therefore, it is crucial to pay attention to external, unusual clinical signs and not be limited to only MRI or cerebrospinal fluid analysis.<\/p>\n

In our case, the unusual factors were the thickening of the anterior ventricular wall, acrocyanosis, hypohidrosis (less sweating), and microalbuminuria. These external signs are not characteristic of any of the listed autoimmune diseases or spinal ischemia, but they are characteristic of a lysosomal storage disorder. It was precisely on the basis of these unusual signs that suspicion of Fabry disease arose. We had the opportunity to be involved in a Europe-wide scientific study a few years ago, the aim of which was to study the prevalence of Fabry disease. Together with Mrs. Marina Janelidze, I was also included in this program, and we examined patients from the Gori, Shida Kartli region. It was confirmed there that this disease truly exists, and we saw about 10 such people. This X-linked disease (related to the mother’s genes) mainly manifests in men, while the woman is, in most cases, a carrier. Indeed, the men who were initially diagnosed with Multiple Sclerosis were found to have Fabry disease, because their clinical manifestations are very similar.<\/p>\n

Currently, enzyme replacement therapy exists for the treatment of Fabry disease; two drugs are used in Europe: Replagaland Fabrazyme (alpha-galactosidase A and B). This is a very effective treatment for rare diseases. At the same time, disease-modifying medications for Multiple Sclerosis (MS), such as Ocrevus, are already available in Georgia and are also distributed in the regions. Since these two diseases (Fabry and MS) are clinically very similar to each other and both can be managed, our clinical task is to differentiate them as accurately as possible. With the correct diagnosis, we can restore a person’s life and ability to live normally. As for this specific case, it turned out that spinal ischemia developed against the background of Fabry disease due to a pathologically altered blood vessel that easily attracted thrombi.<\/p>\n

There is no single guideline for the management of spinal infarction, nor is there sufficient evidence on which clinical decisions can be based. In this case, what principles or consensus recommendations do you follow?<\/em><\/p>\n

For the management of spinal stroke, there is a consensus guideline that considers several treatment approaches. The use of thrombolysis, accepted worldwide, is possible, but it is not universal because we have a lack of clear evidence (Evidence Base). Also, the use of high-dose corticosteroids is considered, which brings certain benefits to patients. However, here, too, there is no clear evidence of its exact benefit or side effects, because the number of such rare patients is very small. The third and important approach is the use of antiplatelet agents (such as aspirin, clopidogrel, and dipyridamole). Such management is advisable because the main task is the prevention of recurrent ischemia and mortality against the background of the underlying pathology that caused the stroke.<\/p>\n

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Neuromedicine is a field of constant change and crucial challenges, where every diagnosis, especially in the case of rare diseases, requires maximum caution and knowledge from the clinician. This is when sharing critical experiences becomes essential, to improve the outcome for more patients through correct and timely diagnosis. Clinical signs sometimes overlap between pathologies, making […]<\/p>\n","protected":false},"author":12,"featured_media":9744,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1653,1631],"tags":[3047,3046,3045],"class_list":["post-9538","post","type-post","status-publish","format-standard","has-post-thumbnail","category-interview","category-neurology","tag-differential-diagnosis","tag-fabry-disease","tag-spinal-stroke"],"acf":[],"_links":{"self":[{"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/posts\/9538","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/comments?post=9538"}],"version-history":[{"count":2,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/posts\/9538\/revisions"}],"predecessor-version":[{"id":9543,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/posts\/9538\/revisions\/9543"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/media\/9744"}],"wp:attachment":[{"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/media?parent=9538"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/categories?post=9538"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/tags?post=9538"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}