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Optic Nerve Edema-Splenomegaly Syndrome


Presentation

  • About a third will have a nonspecific presentation with fever, fatigue, cachexia and lassitude and this presentation is more common in people of black or Indian origin.[patient.info]
  • Mid-stromal clefting was present but was less prominent histopathologically (fig. 3 ). The IPE showed lacy vacuolization (fig. 4 ).[karger.com]
  • Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy.[autoinflammatory-search.org]
  • Presents in teens with intermittent jaundice and hepatomegaly. Progressive shortening and thickening of the palmar fascia causing finger contracture and loss of extension of 5th finger.[quizlet.com]
  • Polydactyly and polysyndactyly of both pre- and postaxial types are usually present. Most neonates with SRPS type II do not live beyond infancy.[disorders.eyes.arizona.edu]
Splenomegaly
  • An inherited disorder with splenomegaly, cytopenias, and vision loss . Am J Med Genet A. 2012 Mar;158A(3):475-81. doi: 10.1002/ajmg.a.34437. Epub 2012 Feb 3.[disorders.eyes.arizona.edu]
  • Review of diagnostic criteria of hyper-reactive malarial splenomegaly. Lancet. 1997 Apr 19. 349(9059):1178. [Medline]. Crane GG. Hyperreactive malarious splenomegaly (tropical splenomegaly syndrome). Parasitol Today. 1986 Jan. 2(1):4-9. [Medline].[emedicine.medscape.com]
  • Who Is at Risk for Splenomegaly? What Causes an Enlarged Spleen? Common Symptoms Diagnosing Splenomegaly Treating Splenomegaly Who Is at Risk for Splenomegaly? Any individual of any age can develop splenomegaly.[rosenfeldinjurylawyers.com]
  • Some with hepatomegaly, splenomegaly or hepatosplenomegaly.[autoinflammatory-search.org]
Gangrene
  • ICD-10-CM Diagnosis Code K80.0 Calculus of gallbladder with acute cholecystitis 2016 2017 2018 2019 Non-Billable/Non-Specific Code Applicable To Any condition listed in K80.2 with acute cholecystitis Use Additional code if applicable for associated gangrene[icd10data.com]
  • Non-atherosclerotic smoking-related inflammation and thrombosis of middle-sized arteries leading to thrombophlebitis and ischemia (ulcers and gangrene). Idiopathic. Multiple lung nodules in coal workers with RA.[quizlet.com]
  • Folliculitis Fuchs' dystrophy Gadgets and Hi-Tech Genital warts Gonorrhea, Galactorrhea Geographic tongue Gout, Gallbladder cancer GERD Grand mal seizure, Gallstones Gestational diabetes Granuloma annulare, Ganglion cysts Giant cell arteritis Graves' disease, Gangrene[sites.google.com]
  • […] weeks in most cases. [98] Cold-induced flares. [98] Relapsing malar rash, thin hair. [93] Scaling, pustular, violaceous and/or blistering rashes on the distal fingers, toes, nose, cheeks, & pinnae of the ears that develops into acral necrosis and/or gangrene[autoinflammatory-search.org]
  • Fever and chills, snakebite, peripheral neuritis, headache, stomachache, toothache, lower leg pain and swelling, gangrene of leg and foot, toes Bi pain, numbness and eczema.[acumedico.com]
Raynaud Phenomenon
  • phenomenon is observed in approximately 20% of patients.[emedicine.medscape.com]
  • Phenomenon, Reading Disorder, Rebound Effect, Rectal Cancer, Rectal Discharge, Rectal Haemorrhage, Red Blood Cell Abnormality, Red Blood Cell Count Decreased, Red Blood Cell Sedimentation Rate Increased, Refusal of Treatment By Patient, Rehabilitation[bonkersinstitute.org]
  • Peripheral vascular disease, including Raynaud’s phenomenon (443). e.[endusmilitarism.org]
Sputum
  • Pulmonary TB, bronchitis, asthma, pleurisy, shoulder, neck and back pain, cough with profuse sputum, weakness, absent mindedness, poor concentration, sadness and grief. Located 1.5 Cun lateral to B-13.[acumedico.com]
  • Episodes of acute bronchitis or pneumonia or hemoptysis (more than blood-streaked sputum) occurring at least once every 2 months; OR B.[secure.ssa.gov]
Urticaria
  • Urticaria and anhidrosis are common features. Genetics Only a single report of this condition has been published.[disorders.eyes.arizona.edu]
  • Chronic urticaria and monoclonal IgM gammopathy (Schnitzler syndrome). Report of 11 cases treated with pefloxacin. Arch Dermatol. 2007;143:1046-1050. de Koning HD, Bodar EJ, van der Meer JW, Simon A.[rarediseases.org]
  • Li-11/ Sp-10/ B-40 skin diseases, L-7/ Sp-10/ Li-11/ St-36 urticaria. Sp-12 Chongmen Penetrating Gate [ The meridian Meeting point of liver and spleen. Transforms damp heat, facilitates Qi and blood flow.[acumedico.com]
  • , Urticaria Generalised, Urticaria Localised, Vaginal Haemorrhage, Varicose Vein, Vascular Injury, Vascular Occlusion, Vasculitic Rash, Vasculitis, Vasculitis Cerebral, Vasculitis Necrotising, Vasoconstriction, Vasospasm, Vein Disorder, Ventricular Arrhythmia[bonkersinstitute.org]
Anhidrosis
  • Urticaria and anhidrosis are common features. Genetics Only a single report of this condition has been published.[disorders.eyes.arizona.edu]
  • Purpose: Tantravahi et al. (2012) previously described a novel inherited syndrome consisting of a cone-rod dystrophy, chronic optic nerve edema and low-grade ocular inflammation, idiopathic massive splenomegaly, mild pancytopenia, and anhidrosis with[webvision.med.utah.edu]
  • Triad of miosis (constriction), partial ptosis enopthalmos (sunken) and anhidrosis (ipsilateral loss of sweating). Interruption of cranial sympathetic supply. Syringomyelia, pancoast's tumour, demyelination or vasc. AD.[quizlet.com]
  • ., anhidrosis) often in a distal-to-proximal gradient. Some patients complain of excessive sweating confined to the head and neck region.[clevelandclinicmeded.com]
Macula
  • The retinal vessels become markedly attenuated and the macula may be mildly edematous and show pigmentary changes. Pigment clumping is not seen.[disorders.eyes.arizona.edu]
  • It is located nasally and slightly inferior to the macula of the eye. There is a blind spot at the optic disc because there are no rods or cones beneath it to detect light.[en.wikipedia.org]
  • Normal Cornea: Clear Anterior chamber: Deep and quiet Iris: No neovascularization Lens: 1 nuclear sclerosis OD; 1 nuclear sclerosis, 1 subcapsular plaque OS Dilated Fundus Examination: OU: Vitreous: Clear, no detachment Optic Nerve: cup-to-disc ratio 0.5 Macula[webeye.ophth.uiowa.edu]
Scotoma
  • Visual fields show a central or cecocentral scotoma, enlargement of the blind spot, and eventually severe peripheral constriction. The vitreous and aqueous humor sometimes have an increased number of cells.[disorders.eyes.arizona.edu]
  • These can include nasal step defects, enlarged blind spots, arcuate scotomas, sectoral field loss and altitudinal defects. [6] Clinical symptoms correlate to visibility of the drusen. [13] Central vision loss is a rare complication of bleeding from peripapillar[en.wikipedia.org]
Enlarged Blind Spot
  • These can include nasal step defects, enlarged blind spots, arcuate scotomas, sectoral field loss and altitudinal defects. [6] Clinical symptoms correlate to visibility of the drusen. [13] Central vision loss is a rare complication of bleeding from peripapillar[en.wikipedia.org]
Peripheral Neuropathy
  • Hughes RAC: Peripheral neuropathy. BMJ 2002;324:466-469.[clevelandclinicmeded.com]
  • The feet and legs are most often affected by peripheral neuropathy, but as time progresses without treatment the hands may become affected as well.[rarediseases.org]
  • Sensory, motor, or sensorimotor peripheral neuropathy, often subclinical, can be detected in up to 55% of unselected patients with Sjögren syndrome. [43] Symptoms of distal paresthesias may be present.[emedicine.medscape.com]
  • Nerves/central nervous system (CNS) Check the function of the VIIth and other cranial nerves and peripheral sensory/motor nerve function to detect peripheral neuropathy. Formal neurological examination is appropriate if there are relevant symptoms.[patient.info]
Speech Disorders
  • Disorder, Speech Rehabilitation, Spermatogenesis Abnormal, Spider Naevus, Spleen Disorder, Splenic Infection, Splenic Vein Thrombosis, Splenomegaly, Staphylococcal Infection, Staring, Status Epilepticus, Stent Placement, Stevens-Johnson Syndrome, Stomach[bonkersinstitute.org]
Metrorrhagia
  • Female genitalia. (1) Abnormal uterine bleeding (626.2), including menorrhagia, metrorrhagia, or polymenorrhea. (2) Amenorrhea (626.0), unexplained. (3) Dysmenorrhea (625.3), incapacitating to a degree recurrently necessitating absences of more than a[endusmilitarism.org]
Onset in Infancy or Childhood
  • Some cases with psoriatic arthritis. [23] [24] Variable age of onset from infancy or childhood to adulthood with pustular psoriasis. [23] [24] Generalized pustular psoriasis (that can be severe), and/or plaque psoriasis.[autoinflammatory-search.org]

Workup

Bilirubin Increased
  • Increased, Blood Calcium Increased, Blood Cholesterol Increased, Blood Creatine Phosphokinase Abnormal, Blood Creatine Phosphokinase Increased, Blood Creatine Phosphokinase Mb, Blood Creatinine Increased, Blood Ethanol Increased, Blood Glucose Decreased[bonkersinstitute.org]
Cytopenia
  • An inherited disorder with splenomegaly, cytopenias, and vision loss . Am J Med Genet A. 2012 Mar;158A(3):475-81. doi: 10.1002/ajmg.a.34437. Epub 2012 Feb 3.[disorders.eyes.arizona.edu]
  • Optic Nerve Edema , Splenomegaly , Cytopenias Optic Nerve Edema, Splenomegaly , Cytopenias This condition has been reported in only one family and little is known about it.[en.mimi.hu]
  • Cytopenia. Blood: 10-fold decrease in ADA2. Low: IgM [131], ADA2-specific adenosine deaminase activity: blood & CD14 monocytes. [73] [74] Absence of hypercoagulability. [131] Negative for antiphospholipid antibodies (APLAs).[autoinflammatory-search.org]
Neutrophil Count Decreased
  • Count Decreased, Neutrophil Count Increased, Neutrophil Percentage Decreased, Night Sweats, Nightmare, No Adverse Drug Effect, No Adverse Effect, Non-Cardiac Chest Pain, Nonspecific Reaction, Normal Newborn, Nuclear Magnetic Resonance Imaging Abnormal[bonkersinstitute.org]

Treatment

  • Recurrent hypersomnia (patients are only awake for 1–2 h per day) Hyper- sexuality when awake Binge eating Treatment : supportive Prion diseases Diseases caused by prion infection.[amboss.com]
  • Treatment Treatment Options: Topical, intravitreal, oral, and subtenon application of steroids apparently have no impact on the progression of the intraocular disease. Cataracts may need to be removed.[disorders.eyes.arizona.edu]
  • Standard Therapies Treatment First-line treatment in mild cases is with nonsteroidal anti-inflammatory drugs (NSAIDs). But this is often not sufficient. In more severe cases, the standard treatment is with therapy to inhibit the cytokine IL-1.[rarediseases.org]
  • Treatment of hyperreactive malarial splenomegaly syndrome. Lancet. 1994 Jun 4. 343(8910):1441-2. [Medline]. Aponte JJ, Aide P, Renom M, et al.[emedicine.medscape.com]

Prognosis

  • Diagnosis and Prognosis: Ophthalmologists and pediatrician are the most likely to make the diagnosis. However, there is no diagnostic test that would help. The prognosis for vision is poor.[disorders.eyes.arizona.edu]
  • Prognosis [ 1, 15 ] Although many patients have sarcoidosis which resolves spontaneously, a significant proportion of patients have chronic or progressive disease with resultant morbidity.[patient.info]
  • Prognosis is variable, and no standardized effective treatment programs are available except for alpha-HCD, which in its early stage may respond to antibiotics.[healio.com]
  • Prognosis [ edit ] Optic nerve damage is progressive and insidious. Eventually 75% of patients will develop some peripheral field defects.[en.wikipedia.org]
  • Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum. 2007;37:137-148. de Koning HD, Bodar EJ, Simon A, van der Hilst JC, Netea MG, van der Meer JW.[rarediseases.org]

Etiology

  • Clinical features Progressive paralysis Blindness Treatment : reversible (withdraw clioquinol) Elsberg syndrome Etiology : HSV-2 infection is most common but other viral etiologies ( i .e., CMV , EBV , HIV ) are possible sacral myeloradiculitis Clinical[amboss.com]
  • Nothing is known regarding the etiology or the mechanism of disease. Treatment Treatment Options: Topical, intravitreal, oral, and subtenon application of steroids apparently have no impact on the progression of the intraocular disease.[disorders.eyes.arizona.edu]
  • With a systematic approach to the evaluation of these disorders, approximately 75% of patients have a specific etiologic diagnosis.[clevelandclinicmeded.com]

Epidemiology

  • SMON (subacute myelo-optic neuropathy) Etiology : iatrogenic (induced by the drug clioquinol) Epidemiology : Most cases were confined to Japan in the 1960's. Oral clioquinol was removed from the market in the 1980's.[amboss.com]
  • DISCUSSION Epidemiology and Pathophysiology Waldenstrom macroglobulinemia (WM) is a lymphoplasmacytic lymphoma characterized by malignant B cells and the accumulation of IgM monoclonal protein in the blood.[webeye.ophth.uiowa.edu]
  • Anterior ischemic optic neuropathy (AION) is a potential complication. [19] Epidemiology [ edit ] Optic disc drusen are found clinically in about 1% of the population but this increases to 3.4% in individuals with a family history of ODD.[en.wikipedia.org]
  • Epidemiology Sarcoidosis occurs worldwide, with a prevalence of about 4.7-64 in 100,000, and an incidence of 1.0-35.5 in 100,000 per year [ 1 ]. The highest rates are reported in northern European/Scandinavian and African-American individuals.[patient.info]
  • Epidemiology, pathogenesis, animal models, and treatment of Sjögren's syndrome. Curr Opin Rheumatol. 1994 Sep. 6(5):501-8. [Medline]. Fox RI. Sjögren's syndrome. Lancet. 2005 Jul 23-29. 366(9482):321-31. [Medline].[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • References: [1] [2] Adrenoleukodystrophy Inheritance : X-linked disorder Epidemiology : rare Most often manifests in young males (early childhood) Pathophysiology : : mutation of the ABCD1 gene , which encodes a peroxisomal ATP -binding cassette (ABC)[amboss.com]
  • Definition Pathophysiology Key History Key Physical Exam Differential Diagnosis Diagnostic Testing Treatment Complications Definition Vaso-occlusive crisis is caused by red blood cell sickling with resultant microvascular occlusion (vaso-occlusion) clinically[thesullivangroup.com]
  • Tedesco S, Postacchini L, Manfredi L, Goteri G, Luchetti MM, Festa A et al (2015) Successful treatment of a Caucasian case of multifocal Castleman’s disease with TAFRO syndrome with a pathophysiology targeted therapy - a case report.[link.springer.com]
  • Pathology findings may help us better understand the pathophysiology of the ocular abnormalities in this disorder. 2016 S.[karger.com]
  • Pathophysiology [ edit ] In children, optic disc drusen are usually buried and undectectable by fundoscopy except for a mild or moderate elevation of the optic disc.[en.wikipedia.org]

Prevention

  • Insufficient natural healthy teeth (521) or lack of a serviceable prosthesis, preventing adequate mastication and incision of a normal diet.[endusmilitarism.org]
  • Prevention In regions where malaria is endemic, travelers should take precautions to prevent mosquito exposure and the development of malaria, including the following: Wearing long-sleeved clothing and pants tucked into socks Using N,N-diethyl-meta-toluamide[emedicine.medscape.com]
  • Prevention Although sarcoidosis cannot be prevented, some preventative measures may reduce complications. For example: Influenza vaccination. Osteoporosis prophylaxis (steroid usage).[patient.info]
  • Laser treatment [15] [16] or photodynamic therapy [17] or other evolving therapies [18] may prevent this complication. Prognosis [ edit ] Optic nerve damage is progressive and insidious.[en.wikipedia.org]
  • Simple or exchange transfusion can reduce the concentration of HbS-containing RBCs to below 30 percent and can prevent or reverse the vasoocclusive process.[thesullivangroup.com]

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