Superficial siderosis

Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.



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Total: 156 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(45.7%)		 16879304
 Cerebral hemiatrophy with superficial siderosis and PLEDs due to a germ cell tumor of the basal ganglia.
Kumar N, Kotagal S, Parisi JE, Westmoreland BF.
Eur J Neurol. 2006;13(8):904-7.
Hemiatrophy
Adult Basal Ganglia Basal Ganglia Diseases Brain Neoplasms Epilepsy Homo sapiens Magnetic Resonance Spectroscopy Male Neoplasms, Germ Cell and Embryonal Siderosis X-Ray Computed Tomography
2
(39.0%)		 8410256
 Superficial siderosis of the central nervous system: magnetic resonance imaging and pathological correlation. Case report.
Janss AJ, Galetta SL, Freese A, Raps EC, Curtis MT, Grossman RI, Gomori JM, Duhaime AC.
J Neurosurg. 1993;79(5):756-60.
Encephalocele
Adult Cerebellum Females Homo sapiens Magnetic Resonance Imaging Postoperative Complications Siderosis
3
(38.6%)		 9847667
 [Long-term follow-up study with PET in a case of superficial siderosis].
Terashi H, Nagata K, Tsutsumi K, Hirata Y, Hatazawa J.
Rinsho Shinkeigaku. 1998;38(6):506-11.
Anosmia Sciatica
Brain Energy Metabolism Females Follow-Up Studies Hemosiderin Homo sapiens Magnetic Resonance Imaging Middle Aged Oxygen Consumption Siderosis Time Factors Tomography, Emission-Computed
4
(35.3%)		 11727238
 [Superficial siderosis of the central nervous system: an uncommon cause of spastic paraparesia].
Carod-Artal FJ, Viana-Brandi I, de Melo CM.
Rev Neurol. 2001;33(6):548-52.
Anosmia Frequent falls
Ataxia Brain Demyelinating Diseases Females Gliosis Hearing Loss, Bilateral Hemosiderosis Homo sapiens Magnetic Resonance Imaging Middle Aged Olfaction Disorders Paraparesis, Spastic
4
(35.3%)		 8169638
 Superficial siderosis of the central nervous system after brachial plexus injury. Case report.
Bonito V, Agostinis C, Ferraresi S, Defanti CA.
J Neurosurg. 1994;80(5):931-4.
Anosmia Spastic paraparesis
Homo sapiens Male Middle Aged Siderosis Subarachnoid Hemorrhage
4
(35.3%)		 7992663
 Superficial hemosiderosis of the central nervous system. A case report.
Maggioni F, Martinello F, Iavicoli R, Pietrogrande F, Trevisan CP.
Acta Neurol (Napoli). 1994;16(3):134-41.
Anosmia Spastic paraparesis
Brain Differential Diagnosis Females Hemosiderosis Homo sapiens Magnetic Resonance Imaging Neurologic Examination Spinal Cord
7
(27.3%)		 22549355
 Superficial siderosis should be included in the differential diagnosis of motor neuron disease.
Kumar N, Fogelson JL, Morris JM, Pichelmann MA.
Neurologist. 2012;18(3):139-45.
Ataxia Limb muscle weakness
Ataxia Brain Cerebrospinal Fluid Rhinorrhea Differential Diagnosis Homo sapiens Hypovolemia Magnetic Resonance Imaging Male Middle Aged Motor Neuron Disease Siderosis X-Ray Computed Tomography
8
(26.3%)		 24250906
(3829287)
 Superficial siderosis: A rare case of ataxia and otoneurological manifestations.
Assarzadegan F, Ehsanpour E, Hosseini B, Beladi-Moghadam N, Mansouri B, Hesami O.
Iran J Neurol. 2013;12(2):69-71.
Anosmia
8
(26.3%)		 22315176
 A rare cause of cerebellar ataxia syndrome: superficial siderosis of central nervous system.
Ting SK, Prakash KM.
Acta Neurol Taiwan. 2011;20(4):257-61.
Anosmia
Cerebellar Ataxia Homo sapiens Magnetic Resonance Imaging Male Middle Aged Siderosis Syndrome
8
(26.3%)		 9773049
 [Case of superficial hemosiderosis of the central nervous system treated with trientine].
Arnaud A, Hermosilla E, Ferrer X, Devoize JL, Rajabally Y, Lagueny A.
Rev Neurol (Paris). 1998;154(3):243-5.
Anosmia
Brain Brain Diseases Chelating Agents Erythrocytes Females Hemosiderosis Homo sapiens Magnetic Resonance Imaging Middle Aged
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 42

HPO ID Term # of case reports
HP:0001251 Ataxia 21
HP:0002138 Subarachnoid hemorrhage 7
HP:0002196 Myelopathy 7
HP:0002888 Ependymoma 7
HP:0002315 Headache 5
HP:0000726 Dementia 4
HP:0000238 Hydrocephalus 3
HP:0030746 Intraventricular hemorrhage 3
HP:0100543 Cognitive impairment 3
HP:0000458 Anosmia 2
HP:0001250 Seizures 2
HP:0002066 Gait ataxia 2
HP:0002180 Neurodegeneration 2
HP:0007185 Loss of consciousness 2
HP:0100008 Schwannoma 2
HP:0000020 Urinary incontinence 1
HP:0000407 Sensorineural hearing impairment 1
HP:0000822 Hypertension 1
HP:0000969 Edema 1
HP:0001123 Visual field defect 1
HP:0001271 Polyneuropathy 1
HP:0001272 Cerebellar atrophy 1
HP:0001751 Vestibular dysfunction 1
HP:0002013 Vomiting 1
HP:0002073 Progressive cerebellar ataxia 1
HP:0002084 Encephalocele 1
HP:0002141 Gait imbalance 1
HP:0002170 Intracranial hemorrhage 1
HP:0002321 Vertigo 1
HP:0002390 Spinal arteriovenous malformation 1
HP:0002435 Meningocele 1
HP:0002615 Hypotension 1
HP:0003418 Back pain 1
HP:0004809 Neonatal alloimmune thrombocytopenia 1
HP:0011970 Cerebral amyloid angiopathy 1
HP:0012234 Agranulocytosis 1
HP:0012246 Oculomotor nerve palsy 1
HP:0012520 Perivascular spaces 1
HP:0012712 Mild hearing impairment 1
HP:0100026 Arteriovenous malformation 1
HP:0100556 Hemiatrophy 1
HP:0100753 Schizophrenia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID