Here, we present a case of sicca syndrome, originally diagnosed as primary Sjögren's syndrome (SS) but later found to represent an initial disease manifestation of AGel amyloidosis, not recognised earlier. [ncbi.nlm.nih.gov]

Clinical Presentation Patients classically present with lattice-like... Further Reading Carrwik C, Stenevi U (2009) Lattice corneal dystrophy, gelsolin type (Meretoja’s syndrome). [link.springer.com]

• Foreign Body Sensation

  He initially presented with xerophthalmia and foreign body sensation in the eyes progressing to mild lagophtalmos, relapsing keratitis, frontal and corrugator muscle palsy, diminished blinking frequency, and lower eyelid dermatochalasis. [academic.oup.com]

• Leg Pain

  Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]

• Paresis

  (a: H and E, original magnification ×160; b and c: Congo red, original magnification ×160) Click here to view GA starts in the third decade of life with corneal lattice dystrophy. [6] Upper facial paresis followed by lower facial paresis is then seen. [neurologyindia.com]

  Clinical diagnosis of FAF is mainly based on detection of corneal lattice dystrophy in slit-lamp examinations, and supported by other characteristic findings such as facial nerve paresis and cutis laxa. [findis.org]

  She had severe bilateral facial paresis, significant orbicularis, and perioral sagging as well as hypoesthesia of extremities and was diagnosed with Meretoja's syndrome at the age of 50, confirmed by the presence of gelsolin mutation. [repositorio.chporto.pt]

  Clinical features include corneal lattice dystrophy and cranial neuropathy (e.g., facial paresis), nephrotic syndrome and renal failure, and cutis laxa. [accessanesthesiology.mhmedical.com]

  C: Facial nerve paresis. D: Polyneuropathy. Figure 1. The cumulative prevalence of symptom according to the patient's age at the time of symptom development. A: Corneal lattice dystrophy. B: Vision impairment. C: Facial nerve paresis. [tandfonline.com]

• Meningism

  Less common disease signs include vitreous opacities, renal disease, and meningeal involvement. [ojrd.biomedcentral.com]

• Kidney Failure

  Kidney failure remains a serious problem for some patients, but even in these cases, kidney transplantation can restore excellent health. [ucl.ac.uk]

  In some cases, the amyloid deposits will cause the kidneys to lose the ability to purify the blood, which can lead to kidney failure; also known as “renal” failure. These patients may need dialysis to replace the function of the kidneys. [amyloidosis.org]

The patient’s pediatrician should be informed of the corneal findings so that appropriate workup for systemic amyloidosis may be completed if necessary. [statpearls.com]

Following this workup the patient should undergo a DNA analysis and tissue biopsy (Table 1 ), although the uneven distribution of amyloid fibrils may yield false-negative results. [ojrd.biomedcentral.com]

• Pericardial Effusion

  Pericardial effusion is another frequent finding in cardiac amyloidosis. The combination of pericardial effusion and increased ventricular wall thickness should prompt a strong suspicion of amyloidotic cardiomyopathy. [ojrd.biomedcentral.com]

In HGA, specific therapy is not yet available but correct diagnosis enables adequate symptomatic treatment which decisively improves the quality of life in these patients. [ncbi.nlm.nih.gov]

CONCLUSION We conclude that plastic surgery plays an important role in the symptomatic treatment of Meretoja syndrome. [academic.oup.com]

There is no cure or general treatment for LCD2. As the main manifestations are ocular, the ophthalmologist has the main role in the symptomatic treatment of LCD2 patients. [onlinelibrary.wiley.com]

In comparing the different treatment modalities, it can be assumed that recurrence is likely with any treatment due to the reaccumulation of amyloid after 5 to 10 years. [statpearls.com]

Treatment is symptomatic with topical lubricants, anti-inflammatory therapy, hydrophilic contact lenses, and occlusion of the lacrimal ducts with plugs. [hindawi.com]

In some cases that present with extremely low visual acuity due to corneal scarring, a corneal transplant could be performed, but prognosis is very poor [ 11 ]. [karger.com]

It will cover the various treatment modalities for LCD, including indications, risks, and prognosis. Additionally, this article distinguishes between true lattice corneal dystrophies and disease processes with similar manifestations. [statpearls.com]

In the most severe cases surgical treatment is required; eyelid surgery (tarsorrhaphy, ectropion correction) or even penetrating keratoplasty is some of the options, but most often with poor prognosis [13, 15]. [hindawi.com]

Etiology A mutation in gelsolin at chromosome 9q32-34 results in protein misfolding and formation of beta sheets in place of alpha helices. It is autosomal dominant with penetrance of 100%. [link.springer.com]

Cornea. 2001 Nov; 20(8): 850-2 Babalola,-O-E; Murdoch,-I-E Corneal changes of uncertain etiology in mesoendemic onchocercal communities of Northern Nigeria. [malattierare.regione.veneto.it]

Introduction Amyloidosis is a group of diseases that can be divided into localized or systemic and the etiology is primary, secondary, or hereditary. [hindawi.com]

Pagina 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Pagina 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.it]

Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.es]

Relevant External Links for GSN Genetic Association Database (GAD) GSN Human Genome Epidemiology (HuGE) Navigator GSN Atlas of Genetics and Cytogenetics in Oncology and Haematology: GSN No data available for Genatlas for GSN Gene Identification of Tyr438 [genecards.org]

Multiple Myeloma Myocardial fibrosis Nephrotic Syndrome Osteomyelitis Peripheral neuropathy Restrictive cardiomyopathy Rheumatoid Arthritis Rheumatoid Polyarteritis Syphilis Systemic Lupus Erythematosus Tuberculosis Ulcerative colitis Vitamin deficiencies Epidemiology [wikidoc.org]

Epidemiology Frequency United States Although lattice corneal dystrophy type I is one of the most common stromal dystrophies in the Western world, it is still relatively rare. [5, 1] International Cases of lattice corneal dystrophy type I have been recognized [emedicine.medscape.com]

Pathophysiology Amyloidosis type V results from the extracellular deposition of gelsolin, a proteinaceous material. These deposits impair organ function. Diagnosis Amyloid deposits in the skin, kidneys, and heart. [accesspediatrics.mhmedical.com]

Pathophysiology As with other amyloid diseases, LCD2 is based on misfolded proteins forming β-sheets instead of α-helices creating fibrillar amyloid structures that accumulate in affected organs to cause pathology. [eyerounds.org]

Nakamura T (2011) Amyloid A amyloidosis secondary to rheumatoid arthritis: pathophysiology and treatments. Clin Exp Rheumatol 29:850–857 PubMed 29. [springermedizin.de]

1969. the patients studied had lattice dystrophy of the cornea and a cranial and peripheral neuropathy.[1] Classification Gelsolin related amyloidosis is a sub group of familial amyloidosis and is also called familial amyloidosis of finnish type.[2] Pathophysiology [wikidoc.org]

[…] of gelsolin related amyloidosis.[33] Secondary Prevention There are no established measures for the secondary prevention of gelsolin related amyloidosis.[34] References ↑ Meretoja J (1969). [wikidoc.org]

The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]

Alternative names Actin depolymerizing factor Actin-depolymerizing factor ADF see all Function Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking [abcam.com]

Recombinant Human Gelsolin/GSN Protein Actin-depolymerizing factor ADF AGEL Brevin DKFZp313L0718 gelsolin (amyloidosis, Finnish type) Gelsolin GSN Background The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent [novusbio.com]

The gold weight is protected with a temporal fascia cover intended to reduce the visibility of the weight by preventing a transition from the submuscular to the subcutaneous plane. [academic.oup.com]