A 2020 study compared information from five data sources representing the most authoritative voices on rare diseases:
ORPHANET (online database of rare diseases and orphan drugs),
OMIM (Online Mendelian Inheritance in Man),
GARD (Genetic and Rare Diseases information centre),
DOID (Disease Ontology),
NCI Thesaurus (National Cancer Institute Thesaurus) (Haendel et al, Nature Review DrugDiscovery, 2020;19:77-78).
Given that 6,370 diseases are present in at least three of the databases above, 4,023 diseases are present only in single databases. Combining this information reveals a total number of 10,393 rare diseases, a number that other studies suggest may even be underestimated (Bamshad et al, Am J Hum Genet, 2019;105:448-355; Smith et al, iScience 2022;25:104698).
TETHERED CORD is present in databases in ORPHANET, GARD and NCI Thesaurus.
This pathology has a standard lumbar MRI as support for the clinical diagnosis.
Dealing with OCCULT TETHERED CORD, WHICH IS NOT PRESENT IN THE ABOVE DATABASE, I agree that the number of rare diseases is underestimated, having operated on more than 400 Italian, 20 European and 4 American patients.
The problem is that the standard lumbar MRI is normal, and the support for the clinical diagnosis, based on the symptoms and the result of the medical evaluation that includes specific tests, is a particular lumbar MRI in the prone position.
Lumbar MRI in the prone position has been studied in OCCULT TETHERED CORD in only two scientific papers, one by the Japanese colleagues of the University of Hiroshima (Use of prone position magnetic resonance imaging for detecting the terminal filum in patients with occult tethered cord syndrome. J Neurosurg Spine 18:76–84, 2013 ©AANS, 2013) and one by me (Prone Position Magnetic Resonance Imaging and Transhiatal Appro ach to Filum Terminale Externum Sectioning in Adolescents with Occult Tethered Cord Syndrome: Report of Four Cases. Pediatr Neurosurg 2020;55:432–438).
The syndrome of OCCULT TETHERED CORD is therefore almost unrecognized in the medical community; to date, "only" 563 scientific papers have been published in the medical literature, compared to the 34,692 of the TETHERED CORD.
My patients are operated on with an innovative minimally invasive surgical technique under local anaesthesia, which I have been carrying out since 2010, which reduces the possible complications of traditional surgery to just cutting the skin while it does not present the various complications, sometimes clinically relevant, of classic surgery (for the detailed differences between minimally invasive surgery under local anaesthesia and traditional surgery under general anaesthesia see the dedicated page on my website by CLICK HERE).
The undersigned described this minimally invasive surgical technique under local anaesthesia for the first time in an international scientific journal: TECHNICAL CASE REPORT. Transhiatal Approach to Filum Terminale Externum Sectioning in Adult Patient With Tethered Cord Syndrome: Case Report. Operative Neurosurgery 15:E1–E4, 2018.
This minimally invasive surgery can also be applied in case of TETHERED CORD.
Surgical interventions are currently performed at the "Per gli Infermi" hospital in Faenza, previously also in the hospitals of Lugo and Cattolica.
The ways to get information are through my website, in which I recommend watching the pre and post-operative videos of patients treated for this pathology, the social media through which Italian and foreign patients, including my patients, share experiences or through the written testimonies (in Italian) of patients; see "Qsalute" web site
CLICK HERE FOR THE "Qsalute" WEBSITE OF THE NEUROSURGERY HOSPITAL OF FAENZA
CLICK HERE FOR THE "Qsalute" WEBSITE OF THE FAENZA HOSPITAL
CLICK HERE FOR THE "Qsalute" WEBSITE OF THE NEUROSURGERY HOSPITAL OF LUGO
The symptoms of patients affected by OCCULT TETHERED CORD syndrome are often Italian and foreign young adults who have symptoms in the lower limbs, low back pain and difficulty in controlling the sphincters, often urinary and sometimes also faecal (the various symptoms may not all be present at the same time), have standard lumbar MRI which is normal and often do not have the correct diagnosis and are referred by a psychologist and psychiatrist.