Spectrum of disorders Ocular neuropathic pain Other names Corneal neuralgia, keratoneuralgia, burning eye syndrome, neuropathic dry eye Specialty Ophthalmology Ocular neuropathic pain is a spectrum of disorders of ocular pain which are caused by damage or disease affecting the nerves. ... The pain was described as sharp, non-radiating, felt like paper cuts in both eyes, and the pain had persisted for 7 years prior to successful treatment with an implanted intrathecal pain pump . [7] Comorbid conditions [ edit ] A number of comorbid conditions have been identified which may predispose the patient to ocular neuropathic pain, including peripheral neuropathic pain, fibromyalgia, and Sjogren's Syndrome. [2] Causes [ edit ] Ocular neuropathic pain is a spectrum of disorders, the various clinical expressions of this disease are believed to reflect the complexity of overlapping networks of interactive pathogenetic cascades. [2] One or more causes may be shown to be present in a single patient through clinical examinations. ... Retrieved 2018-04-16 . ^ Kalangara, Jerry P.; Galor, Anat; Levitt, Roy C.; Felix, Elizabeth R.; Alegret, Ramon; Sarantopoulos, Constantine D. (2015). "Burning Eye Syndrome: Do Neuropathic Pain Mechanisms Underlie Chronic Dry Eye?".
For example, diseases such as cancer and AIDS induce a body wasting syndrome called cachexia , which is notable for the severe muscle atrophy seen. Other syndromes or conditions which can induce skeletal muscle atrophy are congestive heart failure and liver disease. ... Examples of atrophying nerve diseases include Charcot-Marie-Tooth disease , poliomyelitis , amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease), and Guillain–Barré syndrome . Examples of atrophying muscle diseases include muscular dystrophy , myotonia congenita , and myotonic dystrophy .
Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In MSK, tiny sacs called cysts form in the inner part of the kidney (the medulla), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Many people with MSK have no symptoms, but others may have blood in the urine, kidney stones, and urinary tract infections. Rarely, MSK leads to more serious problems, such as chronic pain and kidney failure.
Michael Jordan at Cincinnati Children’s Hospital Medical Center later described this condition and therapy in 2015. [2] Contents 1 Signs and symptoms 2 Genetics 2.1 Inheritance 3 Diagnosis 4 Treatment 5 References Signs and symptoms [ edit ] LRBA deficiency presents as a syndrome of autoimmunity, lymphoproliferation, and humoral immune deficiency. ... Since LRBA loss results in a loss of CTLA4 protein, the immune dysregulation syndrome of LRBA deficient patients can be attributed to the secondary loss of CTLA4. ... "Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity" .
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.
Pignata et al. (1996) suggested this association is a new syndrome presumably with autosomal recessive inheritance. Although alopecia has been reported in several patients with Omenn syndrome (603554), the sisters reported by Pignata et al. (1996) had alopecia at birth, before clinical evidence of erythrodermia, and the alopecia persisted after BMT.
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells , which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood. T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects growth of the hair and nails.
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.
It's been suggested that growing pains may be linked to restless legs syndrome. But muscle pain at night from overuse during the day is thought to be the most likely cause of growing pains. ... Avoid aspirin, due to the risk of Reye's syndrome — a rare but serious condition linked to giving aspirin to children.
Singh et al. (2013) screened 200 white Americans with early-onset familial CAD and metabolic syndrome and 2,000 healthy northern European controls for nonconservative mutations in the LRP6 gene, and identified 3 missense mutations (603507.0002-603507.0004) that cosegregated with the metabolic traits in the kindreds of the affected individuals. ... The index cases had extreme phenotypes of angiographically documented early-onset CAD, at less than 55 years of age in males and less than 60 years of age in females, with at least 3 risk factors for metabolic syndrome and a strong family history of CAD and metabolic traits.
Very long or short QT intervals occur in a heterogeneous collection of mendelian disorders, the various forms of long QT syndrome (LQTS; see 192500) and short QT syndrome (SQTS; see 609620).
This family also independently segregated the arterial tortuosity syndrome (ATS; 208050). By homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability, Najmabadi et al. (2011) identified homozygosity for a missense mutation in the AP4M1 gene (E193K; 602296.0002) in affected members of a family (M004) segregating SPG50.
Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.
These include, in addition to CF, the immotile cilia syndrome(s), hereditary bronchomalacia, and immunodeficiencies (Davis et al., 1983), but familial bronchiectasis, in which the nature of the gene-determined defect is unclear, may remain. ... Mutesa et al. (2009) concluded that some cases of CF-like syndrome in Africa may be associated with mutations in CFTR and ENaC genes.
Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).
Holland et al. (1965) suggested that the syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses. ... They provided evidence linking the syndrome to an inherited dominant APOE mutation (delta149 leu; 107741.0031) that causes a derangement in lipid metabolism and leads to splenomegaly in the absence of severe hypertriglyceridemia.
Sea-blue histiocytes can also be a secondary finding associated with a wide range of disorders, including myelodysplastic syndromes , lymphomas, chronic myelogenous leukemia, idiopathic thrombocytopenic purpura , Niemann-Pick disease , and Norum disease .
Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the LEMD3 gene (607844). ... This and the fact that soft tissues overlying the skeletal changes show abnormalities suggested to Fryns (1995) that 'melorheostosis, like Proteus syndrome (176920), may be another example of an early postzygotic mutation of the mesenchyme resulting in asymmetric involvement of skeletal structures, with concomitant vascular and hamartomatous changes in the overlying soft tissues.'
Some people with melorheostosis associated with other bone disorders (specifically osteopoikilosis and Buschke–Ollendorff syndrome ) have heritable mutations in the LEMD3 gene, but mutations in this gene are not thought to be responsible for isolated melorheostosis.
Rarely, in families with osteopoikilosis or Buschke-Ollendorf syndrome, patients with melorheostosis may be present (as seen in melorheostosis with osteopoikilosis) (see these terms).
The authors proposed the designation 'AP4 deficiency syndrome' to refer to disorders caused by disruption of any of the 4 subunits of the AP4 complex. ... By homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian; less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability, Najmabadi et al. (2011) identified homozygosity for a frameshift mutation in the APE4E1 gene (607244.0003) in 3 affected members of a consanguineous family segregating SPG51.
Guo et al. (2013) stated that none of the mutation-positive patients who were examined by a clinical geneticist had features of Marfan syndrome (see 154700) or any other genetic syndrome associated with thoracic aortic disease (see, e.g., 609192).