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Superficial Siderosis of the Central Nervous System


Presentation

  • This case illustrates the importance of performing T2-weighted imaging of the brain and posterior fossa when sensorineural hearing loss is present.[ncbi.nlm.nih.gov]
  • He was diagnosed eventually as having superficial siderosis of the CNS through brain MRI; however, he presented with only mild hearing impairment without any cerebellar deficits. Seizures can be the major presentation of the superficial siderosis.[ncbi.nlm.nih.gov]
  • We present three new cases. The etiology, pathogenesis, clinical features, and treatment options of SS are reviewed.[ncbi.nlm.nih.gov]
  • We present a case of superficial siderosis in a 43-year-old man who presented to the Emergency Department with sudden onset bilateral visual deterioration and a loss of consciousness.[ncbi.nlm.nih.gov]
  • For the first time, we present one patient with vasculitis of the central nervous system associated with systemic hemochromatosis in superficial siderosis.[ncbi.nlm.nih.gov]
Asymptomatic
  • Superficial siderosis of the central nervous system is a syndrome caused by deposition of hemosiderin in the subpial layers of the central nervous system, occurring as a result of recurrent asymptomatic or symptomatic bleeding into the subarachnoid space[ncbi.nlm.nih.gov]
  • Because of the good availability of magnetic resonance imaging, asymptomatic cases of superficial siderosis of the central nervous system are increasingly discovered. SS cases are increasingly reported in the literature. We present three new cases.[ncbi.nlm.nih.gov]
  • A long asymptomatic phase and lack of predictive relationship between duration and severity of hearing loss makes suspicion of SSCN based solely on audiometric battery difficult; however, asymmetric hearing loss exceeding expectations, particularly with[ncbi.nlm.nih.gov]
  • The majority of these cases would presumably be asymptomatic and incidental findings, but given the early identification of this potentially debilitating neurologic disease.[surgicalneurologyint.com]
Raynaud Phenomenon
  • Evidence of a central Raynaud’s phenomenon. Reumatismo 53:289–297 PubMed Google Scholar 12. Herrick AL (1995) Neurological involvement in systemic sclerosis. Br J Rheumatol 34:1007–1008 PubMed CrossRef Google Scholar 13.[doi.org]
  • Di Poi E, Bombardieri M, Damato R, Gremese E, Valesini G, Fer-raccioli G (2001) Neurological involment in systemic sclerosis.Evidence of a central Raynauds phenomenon. Reumatismo53:28929712.[docslide.com.br]
Blurred Vision
  • A 69-year-old man presented with headache, unsteady gait, blurred vision, and progressive hearing loss.[ncbi.nlm.nih.gov]
Visual Impairment
  • An elderly patient with SSNS presenting with ataxia, depression and severe visual impairment was admitted to the Unit of Geriatrics of the University Hospital of Perugia, Italy.[ncbi.nlm.nih.gov]
Hearing Impairment
  • Progressive ataxia and hearing impairment are the most common manifestations of the disorder. We describe a male patient admitted to our hospital for recurrent seizures over the past 3 months.[ncbi.nlm.nih.gov]
  • Patients present with progressive and debilitating symptoms that typically include adult-onset slowly progressive cerebellar gait ataxia and sensorineural hearing impairment.[ncbi.nlm.nih.gov]
  • The most characteristic symptoms are cerebellar ataxia and sensorineural hearing impairment. T2-weighted gradient echo magnetic resonance imaging constitutes the diagnostic method of choice.[ncbi.nlm.nih.gov]
  • Subjective hearing impairment after subarachnoid haemorrhage: Prevalence and risk factors . Journal of the Neurological Sciences, Vol. 372, Issue. , p. 184. CrossRef Google Scholar Fukui, Melanie B. and Meltzer, Carolyn Cidis 2009.[cambridge.org]
  • Case Report A 69 year old male presented with a five year history of unsteadiness, progressive hearing impairment and bilateral lower limbs tingling. Neurological examination revealed bilateral sensory deafness and gait ataxia.[imj.ie]
Progressive Hearing Loss
  • A 69-year-old man presented with headache, unsteady gait, blurred vision, and progressive hearing loss.[ncbi.nlm.nih.gov]
  • Superficial siderosis of the central nervous system (CNS) is a rare but ultimately fatal disorder characterized by progressive hearing loss, ataxia, and dementia.[ncbi.nlm.nih.gov]
  • The authors report a 32-year-old woman who had undergone repair of an occipital encephalocele in infancy and who experienced a 20-year history of progressive hearing loss and intermittent vertigo.[ncbi.nlm.nih.gov]
  • "Superficial siderosis syndrome with progressive hearing loss and bilateral vestibular failure, 51 years after a neurosurgical procedure: diagnostic value of combined MRI and video head impulse test." J Neurol 264(2): 391-393.[dizziness-and-balance.com]
  • He complained of a progressive hearing loss bilaterally as well as of recurrent episodes of positional vertigo and peripheral facial nerve palsy which occurred during several days for 10 years.[ispub.com]
Psychiatric Symptoms
  • Otherrare CNS abnormalities described include cerebral vasculi-tis [13] and psychiatric symptoms [12].SuperWcial siderosis of CNS and SSc are both rare dis-eases; in our patient the association of the two disordersmay be casual.[docslide.com.br]
Mental Deterioration
  • On the basis of our cases and a review of the literature, the majority of patients manifest sensorineural hearing loss in addition to cerebellar dysfunction, pyramidal tract signs, and progressive mental deterioration.[ncbi.nlm.nih.gov]
  • The usual symptoms are hearing loss, ataxia, spastic paraparesis, sensory and sphincter deficits, and mental deterioration.[ncbi.nlm.nih.gov]
  • All patients developed progressive deafness and cerebellar ataxia associated with pyramidal tract signs or mental deterioration. The cerebrospinal fluid examinations usually revealed an elevated protein level, without other abnormalities.[readbyqxmd.com]
Drop Attacks
  • A 58-year-old female patient experienced 9 months of continuous progressive dizziness, difficulty with mobilization, drop attacks, and lack of hearing. The patient also had an extensive history of thoracic spinal surgeries.[ncbi.nlm.nih.gov]
Recurrent Headache
  • This patient also had associated bilateral caloric weakness with episodes of severe recurrent headaches over the two preceding years.[scienceopen.com]
Tonic-Clonic Seizure
  • A 58-year-old woman presented at our hospital after experiencing several generalised tonic-clonic seizures, which started eight months prior to admission.[smj.org.sg]

Workup

  • Treatment and prognosis Unfortunately, no proven direct treatment exists for established siderosis, and workup is focussed on identifying the causative lesion, although often even this is not possible.[radiopaedia.org]
  • Treatment and prognosis Unfortunately, no proven direct treatment exists for established siderosis, and workup is focused on identifying the causative lesion, although often even this is not possible.[radiopaedia.org]
  • […] episodic encephalopathy due to a spinal dAVF has also previously been reported as a cause of symptomatic SS.[ 6 ] The two additional cases reported in the present case as well as the previous case reports highlight the need for a through cerebrovascular workup[surgicalneurologyint.com]
Cerebrospinal Fluid Abnormality
  • It is associated with cerebrospinal fluid abnormalities consistent with recurrent bleeding into the subarachnoid space. The usual symptoms are hearing loss, ataxia, spastic paraparesis, sensory and sphincter deficits, and mental deterioration.[ncbi.nlm.nih.gov]
Occipital Encephalocele
  • The authors report a 32-year-old woman who had undergone repair of an occipital encephalocele in infancy and who experienced a 20-year history of progressive hearing loss and intermittent vertigo.[ncbi.nlm.nih.gov]

Treatment

  • In two patients surgical treatment of ependymoma or cerebral cavernomas were the underlying diseases. No cause was detected in one patient.[ncbi.nlm.nih.gov]
  • The progressive retrocochlear nature of the disorder makes differential diagnosis difficult and development of effective treatment options challenging.[ncbi.nlm.nih.gov]
  • Late diagnosis and the association of symptoms with SSNS prevented the possible surgical treatment of the disease. Recognition of uncommon clinical variants may facilitate early diagnosis of SSNS and improve therapeutic results.[ncbi.nlm.nih.gov]
  • Moreover, we extensively review the literature of SS, particularly focusing on the pathogenesis, clinical-radiological classification, diagnostic algorithm and treatment options of this rare condition.[ncbi.nlm.nih.gov]
  • Now, diagnosis is confirmed by characteristic magnetic resonance imaging findings and treatment is targeted toward the source of bleeding.[ncbi.nlm.nih.gov]

Prognosis

  • Our report underlies the importance of early diagnosis and surgical management, with imaging examination of the full neuroaxis to identify the source of bleeding, to halt disease progression and improve prognosis.[ncbi.nlm.nih.gov]
  • Diagnosis of SSCN may alter expectations for audiologic prognosis and is a critical component for comprehensive management of SSCN patients.[ncbi.nlm.nih.gov]
  • Treatment and prognosis Unfortunately, no proven direct treatment exists for established siderosis, and workup is focussed on identifying the causative lesion, although often even this is not possible.[radiopaedia.org]
  • Treatment and prognosis Unfortunately, no proven direct treatment exists for established siderosis, and workup is focused on identifying the causative lesion, although often even this is not possible.[radiopaedia.org]
  • In this case report, the presentation, diagnosis, pathogenesis, treatment and prognosis of SS are reviewed. Case report A 58-year-old man suffered from recurrent peripheral facial nerve palsy and bilateral hearing loss.[ispub.com]

Etiology

  • In patients with progressive bilateral cochleo-vestibular deficit of unknown etiology, MRI is the examination of choice to confirm SS.[ncbi.nlm.nih.gov]
  • Additional intracerebral bleeds are evidenced on susceptibility-weighted images in all three cases, which provide possible clues to the underlining etiology of superficial siderosis.[ncbi.nlm.nih.gov]
  • The etiology, pathogenesis, clinical features, and treatment options of SS are reviewed.[ncbi.nlm.nih.gov]
  • In patients with unknown etiology no proofed therapy is yet available.[ncbi.nlm.nih.gov]
  • The etiologies and the pathogenesis are discussed. Read this article (multiple options) Comments Related Papers[readbyqxmd.com]

Epidemiology

  • Chorea-Acanthocytosis (Neuroacanthocytosis; CHAC) Vacuolar protein sorting 13, yeast, homolog of, A (VPS13A;Chorein) ; Chromosome 9q21.2; Recessive Epidemiology: Especially common in Japan Genetics: Mutations Japanese: Frameshift deletion Other: Missense[neuromuscular.wustl.edu]
Sex distribution
Age distribution

Pathophysiology

  • Deposition of free iron and hemosiderin in pial and subpial structures leads to intoxication of the central nervous system and represents the pathophysiological mechanism of superficial siderosis.[ncbi.nlm.nih.gov]
  • Pathophysiological considerations hopefully may lead to more helpful medications for this chronic and debilitating disorder.[ncbi.nlm.nih.gov]
  • The pathophysiology of the prominent vessels without vascular malformations seen during the work-up of SS is unknown.[ajnr.org]

Prevention

  • Late diagnosis and the association of symptoms with SSNS prevented the possible surgical treatment of the disease. Recognition of uncommon clinical variants may facilitate early diagnosis of SSNS and improve therapeutic results.[ncbi.nlm.nih.gov]
  • This case is interesting insofar as the surgical treatment prevented further bleeding and possibly progression of the disease.[ncbi.nlm.nih.gov]
  • However, once the neurodegenerative process has begun, surgical intervention does not prevent the neurodegenerative disease from progressing.[clinicaltrials.gov]
  • There is no current cure for superficial siderosis, only treatments to help alleviate the current symptoms and to help prevent the development of further symptoms.[en.wikipedia.org]

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