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]

Buck's 2016 ICD-10-CM for Physicians: Professional Edition. Designed by coders for coders, this full-color manual includes all the ICD-10 codes needed for today's outpatient and physician-based coding. [books.google.com]

Although in some patients the parotid glands become so large that the patients report this as a problem, more often the examining physician discovers them. [emedicine.medscape.com]

Years Published 2008, 2012, 2015, 2018 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. [rarediseases.org]

Attefa Sultani, OD, FAAO, is an associate optometrist with Associated Eye Physicians in Clifton and Pompton Lakes, N.J., and also practices at Family Eye Health and Vision Center, Garfield, N.J. [healio.com]

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]

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 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]

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]

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]

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]

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]

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]

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]

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]

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]

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]