Heterogeneity of Spermatogenic Failure For a discussion of Y-linked spermatogenic failure due to Sertoli cell-only syndrome, see 400042. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). ... Reijo et al. (1995) studied 89 men with nonobstructive azoospermia, 78 of whom had undergone testis biopsy, revealing Sertoli cell-only syndrome (SCO; 400042) in 42 of them and testicular maturation arrest in 36. ... On histology, 1 patient had SCO syndrome, 1 had hypospermatogenesis, 2 had premeiotic arrest, and 1 had meiotic arrest. ... The 3 patients with AZFaT1, DFFRY, and DBY deleted showed a severe Sertoli cell-only syndrome type 1 phenotype, whereas the patient that had retained DBY showed a milder oligozoospermic phenotype. ... There was no clear correlation between the size and the location of the deletions and the testicular phenotype; patients lacking DBY exhibited either Sertoli cell-only syndrome or severe hypospermatogenesis.
Complete deletions of AZFa, AZFb+c and AZFb regions are always associated with azoospermia: testicular histology shows either total lack of germline cells (SCOS or Sertoli cell only syndrome) or more or less systematised arrested maturation of cells from the spermatogenetic cell lineage.
Another, possibly X-linked, form of Sertoli cell-only syndrome has also been reported (305700). ... Foresta et al. (1998) concluded that a large percentage of idiopathic SCO syndrome may be genetically determined and that there is a Y-related region that seems to possess 1 or more genes essential for spermatogenesis. ... There was no clear correlation between the size and location of the deletions and the testicular phenotype; patients lacking DBY exhibited either complete Sertoli cell-only syndrome or severe hypospermatogenesis (SCO syndrome type II). ... Using this protocol in 100 men with a histologic diagnosis of complete germ cell aplasia (SCO syndrome), Kamp et al. (2001) identified 9 (9%) who had complete AZFa deletions. ... The authors concluded that USP9Y is not essential for normal sperm production and fertility in humans. History The Sertoli cell-only syndrome was first described by Del Castillo et al. (1947).
Parsapour et al. (2003) delineated 2 forms of Sweet syndrome, idiopathic and associated with malignancy. ... Malignancies associated with Sweet syndrome are usually hemoproliferative disorders or solid tumors. ... The incidence of Behcet disease is very high in Japan (1 per 15,000 people); although no cases of Sweet syndrome with Behcet syndrome had been reported outside Japan, several Japanese patients with Behcet disease also had features of Sweet syndrome. ... Molecular Genetics Mizoguchi et al. (1988) reported a Japanese patient with Sweet syndrome with symptoms similar to those of Behcet disease and performed HLA typing on 28 patients with Sweet syndrome and 49 patients with Behcet disease. ... The frequency of HLA-Bw54 is higher in Japanese (17.9%) compared with white (0.6%) or black (0%) populations and suggests a genetic predisposition among Japanese for Sweet syndrome. Parsapour et al. (2003) performed a comprehensive review of the literature on pediatric Sweet syndrome and reported 2 Caucasian male sibs with idiopathic neonatal Sweet syndrome, providing further evidence for a genetic component.
Epidemiology Several hundred cases of Sweet syndrome have been published. Clinical description Classical Sweet syndrome (CSS) usually presents in women between the age of 30 and 50 years, it is often preceded by an upper respiratory tract infection and may be associated with inflammatory bowel disease. ... Approximately one-third of patients with CSS experience recurrence of the dermatosis. Malignancy-associated Sweet syndrome (MASS) can occur as a paraneoplastic syndrome in patients with an established cancer or individuals whose Sweet syndrome-related hematologic dyscrasia or solid tumor was previously undiscovered; MASS is most commonly related to acute myelogenous leukemia. ... Hence, MASS can be the cutaneous harbinger of either an undiagnosed visceral malignancy in a previously cancer-free individual or an unsuspected cancer recurrence in an oncology patient. Drug-induced Sweet syndrome (DISS) most commonly occurs in patients who have been treated with granulocyte-colony stimulating factor, however, numerous medications have also be associated with DISS. ... Clinical and laboratory evidence suggests that altered expression of inflammatory effector molecules, abnormal neutrophil function and genetic predisposition have an etiologic role. Diagnostic methods Sweet syndrome (SS) is a diagnosis of exclusion and is based on criteria (both of the major and 2 minor criteria are required for diagnosis). ... Differential diagnosis Differential diagnosis includes infectious disorders, inflammatory disorders (e.g. arthropod bites, halogenoderma, other neutrophilic dermatoses, Wells syndrome), and neoplastic disorders (e.g. leukemia cutis, lymphoma cutis, metastatic carcinoma).
Sweet's syndrome Other names (a) Five centimeter pseudovesicular erythematous plaque on the shoulder Sweet's syndrome lesions with the classical form of the dermatosis. ... The syndrome was first described in 1964 by Robert Douglas Sweet . ... "Sweet's syndrome in a patient with Crohn's disease: a case report" . ... PMID 14201182 . ^ Cohen, Phillip R (2007). "Sweet's syndrome - a comprehensive review of an acute febrile neutrophilic dermatosis" . ... Retrieved 4 Jan 2011 . ^ a b Cohen PR (2007). "Sweet's syndrome--a comprehensive review of an acute febrile neutrophilic dermatosis" .
Acute febrile neutrophilic dermatosis is a skin condition characterized by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn't known. It is suspected that it can be a reaction of the body to certain exposures (sun), infections ( Streptococcus bacteria, C ampylobacter ), or medications ( azathioprine , nonsteroidal anti-inflammatory medications ). This condition can also occur with some types of cancer and other serious health problems.
Popliteal artery entrapment syndrome Normal course of the popliteal artery at the back of the knee The popliteal artery entrapment syndrome is a rather uncommon pathology , which results in claudication and chronic leg ischemia . ... Diagnosis [ edit ] Differential diagnosis [ edit ] Exercise induced lower leg pain includes chronic exertional compartment syndrome, [2] unresolved muscle strain (this classically occurs at the musculotendinous junction of the medial head of gastrocnemius), medial tibia stress syndrome, fibular and tibial stress fractures, fascial defects, nerve entrapment syndrome, vascular claudication (atherosclerotic or popliteal artery entrapment syndrome) and referred pain from lumbar disc herniation. [3] Epidemiology [ edit ] In the general population, popliteal artery entrapment syndrome (PAES) has an estimated prevalence of 0.16%. [4] It is most commonly found in young, physically active males. [5] In fact, sixty percent of all cases of this syndrome occur in athletically active males under the age of 30. [6] The predilection of this syndrome presents in a male to female ratio of 15:1. [4] This discrepancy in prevalence may be partially attributed to the findings that males are generally found to be more physically active than females or because a large portion of the data accumulated for PAES is from military hospitals that treat mostly male populations. [6] The prevalence of PAES varies through different populations; it increases in those who participate in running, soccer, football, basketball, or rugby. [7] During embryonic development , the medial head of gastrocnemius migrates medially and superiorly. ... Servello was the first to draw attention to diminished distal pulses observed with forced plantar- or dorsiflexion in patients suffering from this syndrome. Bouhoutsos and Daskalakis in 1981 reported 45 cases of this syndrome in a population of 20,000 Greek soldiers. ... "Popliteal artery entrapment syndrome". Am J Surg . 109 (5): 620–4. doi : 10.1016/S0002-9610(65)80016-2 . ... PMID 10461713 . ^ a b "Popliteal Artery Entrapment Syndrome (PAES) | Cleveland Clinic" . Cleveland Clinic .
Popliteal artery entrapment syndrome care at Mayo Clinic Symptoms The main symptom of popliteal artery entrapment syndrome (PAES) is pain or cramping in the back of the lower leg (the calf) that occurs during exercise and goes away with rest. ... Causes Popliteal artery entrapment syndrome (PAES) is caused by an abnormal calf muscle, usually the gastrocnemius muscle. ... Risk factors Popliteal artery entrapment syndrome (PAES) is uncommon. The following things increase your risk of the condition. ... If popliteal artery entrapment syndrome is found early, your treatment may be easier and more effective. ... For popliteal artery entrapment syndrome, some basic questions to ask your doctor include: What is likely causing my symptoms or condition?
Ramos-Arroyo syndrome Other names Corneal anesthesia-deafness-intellectual disability syndrome Ramos-Arroyo syndrome is inherited in an autosomal dominant manner Ramos-Arroyo syndrome is marked by corneal anesthesia , absence of the peripapillary choriocapillaris and retinal pigment epithelium , bilateral sensorineural hearing loss , unusual facial appearance, persistent ductus arteriosus , Hirschsprung disease , and moderate intellectual disability . [1] It appears to be a distinct autosomal dominant syndrome with variable expressivity. [2] As of 2008 this syndrome has only been reported in five individuals within three generations of the same family; two young children, their mother, their uncle and their maternal grandmother. This most recent generation to be diagnosed with Ramos-Arroyo syndrome supports the hypothesis that this disease is a distinct autosomal dominant disorder. If this syndrome could be identified in other families it may help to discriminate the gene responsible. [2] References [ edit ] ^ Ramos-Arroyo, Maria A.; Clark, G. ... "Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: A new syndrome?". American Journal of Medical Genetics . 26 (2): 345–354. doi : 10.1002/ajmg.1320260213 . PMID 2433942 . ^ a b Spurrier, Jamie L.; Weaver, David D. (15 March 2008). "Ramos-Arroyo syndrome: Long-term follow-up of previously reported family".
Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability. ... Overlap with the group of diseases known as hereditary sensory and autonomic neuropathy (HSAN, see this term) has been suggested. Etiology The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected.
Clinical Features Ramos-Arroyo et al. (1987) described a sister and brother with a seemingly 'new' syndrome consisting of hypesthetic corneas, absence of peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus (see 607411), moderate mental retardation, and unusual facial appearance consisting of hypertelorism, flat facial profile, frontal bossing, depressed nasal bridge, and midfacial hypoplasia. ... Inheritance Spurrier and Weaver (2008) stated that the Ramos-Arroyo syndrome appeared to be an autosomal dominant disorder with incomplete penetrance.
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. ... Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. Frequency Tetra-amelia syndrome has been reported in only a few families worldwide. ... Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome. In other affected families, the cause of tetra-amelia syndrome has not been determined. ... Learn more about the gene associated with Tetra-amelia syndrome WNT3 Inheritance Pattern In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance.
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. ... Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth.
Lyngstadaas syndrome Other names Steroid dehydrogenase deficiency-dental anomalies syndrome This condition is inherited in an autosomal recessive manner Lyngstadaas Syndrome, also known as severe dental aberrations in familial steroid dehydrogenase deficiency [1] , is a rare autosomal recessive liver disease involving an enzyme (steroid dehydrogenase ) deficiency and dental anomalies. [2] [3] The disease is named after the Norwegian professor Ståle Petter Lyngstadaas . Contents 1 Cause 2 Diagnosis 3 Management 4 Epidemiology 5 See also 6 References 7 External links Cause [ edit ] Lyngstadaas syndrome is an autosomal recessive liver disease [4] Diagnosis [ edit ] This section is empty. ... You can help by adding to it . ( July 2017 ) Epidemiology [ edit ] Office of Rare Diseases listed Lyngstadaas syndrome as a "rare disease". This means that Lyngstadaas syndrome, or a subtype of Lyngstadaas syndrome, affects less than 200,000 people in the US population. [ citation needed ] Orphanet , a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. ... Retrieved 2016-03-01 . ^ Steroid dehydrogenase deficiency - dental anomalies Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Lyngstadaas syndrome" . www.orpha.net . Retrieved 2016-03-01 . ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Steroid dehydrogenase deficiency dental anomalies syndrome" . www.orpha.net . Retrieved 26 September 2019 .
Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family.
Uner Tan Syndrome , Unertan syndrome or UTS is a syndrome proposed by the Turkish evolutionary biologist Üner Tan . ... According to Tan, the syndrome may be placed in its own category under types of cerebellar ataxias . [3] This simply means it is a type of disorder that involves the cerebellum becoming inflamed, resulting in lack of control of voluntary movements. [4] Uner Tan syndrome falls into this category because it has similar symptoms to other cerebellar ataxia disorders such as Disequilibrium Syndrome (DES-H) and Cayman Syndrome. ... The two types of Uner Tan Syndrome, UTS type I and type II show genetic heterogeneity. ... The fact that chromosome 9p24 had no effect on some families points to the genetic heterogeneity of the syndrome. [6] Another approach for establishing the genealogy has been to compare UTS with similar syndromes such as disequilibrium syndrome (DES) and Joubert syndrome. ... When compared with DES, Joubert syndrome has shown links to 7 gene mutations.
22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. ... The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. ... Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. ... Frequency More than 2,200 people have been diagnosed with 22q13.3 deletion syndrome worldwide. Causes 22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. ... Additional genes in the deleted region probably contribute to the varied features of 22q13.3 deletion syndrome. Learn more about the gene and chromosome associated with 22q13.3 deletion syndrome SHANK3 chromosome 22 Inheritance Pattern Most cases of 22q13.3 deletion syndrome are not inherited.
Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Epidemiology Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is underdiagnosed and its true incidence remains unknown. ... Diagnostic methods The diagnosis of monosomy 22q13.3 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. ... Differential diagnosis Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like behavior (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders and cerebral palsy; see these terms).
22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome disorder caused by the loss ( deletion ) of a small piece of chromosome 22 . ... Not everyone with 22q13.3 deletion syndrome will have the same medical, developmental, or behavioral problems (features). ... Most reported cases of 22q13.3 deletion syndrome are caused by 22q13.3 deletions, which usually includes many genes. The loss or the variation (mutation) of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the common features associated with 22q13.3 deletion syndrome, especially intellectual disability, speech problems, low muscle tone, and developmental delay. Additional genes within the deleted area probably contribute to other features of the syndrome. In most cases, a larger deletion increases the number and severity of associated features, especially the severity of low muscle tone, developmental delay, differences in physical features, speech, and autism-like behavior.
Normal stature and normal head size distinguishes Phelan-McDermid syndrome from other autosomal chromosome disorders. ... No characteristic EEG findings are associated with Phelan-McDermid syndrome. Neurologic and motor regression has been reported by a number of parents of individuals with Phelan-McDermid syndrome. ... Individuals with Phelan-McDermid syndrome have a delayed response to verbal cues. ... Prevalence The prevalence of Phelan-McDermid syndrome is unknown. More than 1,500 individuals are registered with the Phelan-McDermid Syndrome Foundation (Venice, Florida, 2017). ... Physical injury, including shaken baby syndrome, can also lead to cerebral palsy.
Description Phelan-McDermid syndrome is a developmental disorder with variable features. ... Clinical Features Phelan et al. (2001) compared the phenotypes of 37 patients with 22q13 deletion syndrome with those of 24 published cases. ... Tabolacci et al. (2005) suggested that patients diagnosed with Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion. ... Other Features Sathyamoorthi et al. (2009) reported a patient with Phelan-McDermid syndrome and atypical teratoid/rhabdoid tumor. ... Wilson et al. (2003) determined the deletion size and parent of origin in 56 patients with the 22q13 deletion syndrome. Similar to other terminal deletion syndromes, there was an overabundance of paternal deletions.
Unsourced material may be challenged and removed. Find sources: "22q13 deletion syndrome" – news · newspapers · books · scholar · JSTOR ( December 2016 ) ( Learn how and when to remove this template message ) Rare genetic syndrome 22q13 deletion syndrome Other names Phelan–McDermid syndrome Chromosome 22 mutations cause 22q13 syndrome. Specialty Medical genetics 22q13 deletion syndrome , also known as Phelan–McDermid syndrome ( PMS ), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22 . ... Eugene (2007-11-15). "22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay". ... PMID 11391650 . 22q13.org "22q13 deletion syndrome home" Phelan MC, McDermid HE (2011). "The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)" . Mol Syndromol . 2 (1): 186–201. doi : 10.1159/000334260 .
One patient presented with the West syndrome and had an asymmetric hypsarrhythmia. ... This condition is also confused with Naegeli syndrome (161000). Sacrez et al. (1970) reported familial occurrence: a mother and 3 daughters were affected. ... Turleau et al. (1986) reported an infant with mosaicism for a microdeletion of the proximal region of 15q similar to that observed in the Prader-Willi syndrome (176270). They pointed to 3 earlier reports of chromosomal rearrangements in this disorder, all of different types. ... They suggested that IP1 and ITO represent allelic forms or a contiguous gene syndrome, with different genetic alterations in the Xp11 region giving rise to ITO or IP1 or borderline phenotypes. ... By fluorescence in situ hybridization, Pellegrino et al. (1995) confirmed that their patient was deleted for one copy of a P gene in the cells with the unbalanced translocation, and for loci within the region critical for the Prader-Willi/Angelman syndromes. Although hypomelanosis of Ito is a heterogeneous condition, Pellegrino et al. (1995) postulated that, in their case and potentially in others, the phenotype may result directly from the loss of specific pigmentation genes.
Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.
Nevus of Ito is a colored birth mark that is usually slate-brown or blue/gray. It is an unusual birthmark in which the melanocytes (pigment cells) are found deeper than normal in the skin. This type of birthmark is usually located on the shoulder and upper arm area on one side of the body. It can sometimes be associated with sensory changes in the involved skin area. Very rarely does nevus of Ito become cancerous. The exact cause is unknown.
Wilson–Mikity syndrome Other names Pulmonary dysmaturity syndrome [1] Specialty Pediatrics Wilson–Mikity syndrome , is a rare lung condition that affects low birth weight babies . [2] It is closely related to bronchopulmonary dysplasia , differing mainly in the lack of prior ventilatory support. All the initial patients described with Wilson–Mikity syndrome were very low birth weight infants that had no history of mechanical ventilation and yet developed a syndrome that clinically resembled BPD. ... "Wilson-Mikity syndrome (pulmonary dysmaturity syndrome)" . ... "Relationship between Wilson–Mikity syndrome and the new bronchopulmonary dysplasia" . ... Lehman, DH (October 1969). "The Wilson-Mikity syndrome. Case report and review of literature" .
Psychosomatic condition For the film, see The Stendhal Syndrome . Stendhal syndrome , Stendhal's syndrome or Florence syndrome is a psychosomatic condition involving rapid heartbeat , fainting , confusion and even hallucinations , [1] allegedly occurring when individuals become exposed to objects, artworks, or phenomena of great beauty. [2] Contents 1 History 2 See also 3 References 4 External links History [ edit ] Stendhal syndrome was named after Marie-Henri Beyle (1783–1842), better known by his pen name, Stendhal . ... A more recent account of the Stendhal syndrome was in 2018, where a visitor to the Uffizi Gallery in Florence suffered a heart attack while admiring Sandro Botticelli 's The Birth of Venus . [6] See also [ edit ] Double Rainbow Jerusalem syndrome Lisztomania Paris syndrome The Stendhal Syndrome , a psychological thriller film on the subject References [ edit ] ^ a b Nick Squires (28 July 2010). "Scientists investigate Stendhal Syndrome – fainting caused by great art" . ... "La sindrome di Stendhal fra psicoanalisi e neuroscienze" [The Stendhal syndrome between psychoanalysis and neuroscience]. ... PMID 24770571 . ^ Jones, Jonathan (18 December 2018). "Stendhal syndrome: can art really be so beautiful it makes you ill?"
Unlike most people with insulin resistance, females with type A insulin resistance syndrome are usually not overweight. The features of type A insulin resistance syndrome are more subtle in affected males. ... These disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome, are considered part of a spectrum. ... Frequency Type A insulin resistance syndrome is estimated to affect about 1 in 100,000 people worldwide. ... Causes Type A insulin resistance syndrome results from mutations in the INSR gene. ... Learn more about the gene associated with Type A insulin resistance syndrome INSR Inheritance Pattern Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance.
Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. ... Hyperandrogenism (associated with polycystic ovarian syndrome (see this term) or ovarian hyperthecoses) leads to fertility problems. Etiology In some cases, the syndrome is caused by heterozygous mutations in the insulin receptor gene ( INSR ; 19p13.3-p13.2), affecting the region encoding the tyrosine kinase domain. ... When such mutations are not found, the disease is of unknown cause and may be considered as an HAIR-AN syndrome (see this term). Differential diagnosis The differential diagnosis includes the other forms of extreme insulin-resistance, in particular the lipodystrophy syndromes (see these terms), in which the reparation anomaly of the adipose tissue may be clinically minor. The differential diagnosis with type B insulin resistance syndrome is based on the lack of insulin anti-receptor auto-antibodies in patients with the type A syndrome.
See also: Alport syndrome , May–Hegglin anomaly , and Fechtner syndrome Epstein syndrome Giant platelet in a peripheral blood smear. ... This disease affects the patient's renal system and can result in kidney failure . Epstein Syndrome was first discovered in 1972 when two families had similar symptoms to Alport syndrome . [1] Epstein syndrome and other Alport-like disorders were seen to be caused by mutations in the MYH9 (myosin heavy chain 9) [2] gene, however, Epstein syndrome differs as it was more specifically linked to a mutation on the R702 codon on the MYH9 gene. ... "An unusual cause of renal failure; Epstein syndrome" . Journal of Nephropharmacology . 5 (1): 63–65. ... "MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness". ... External links [ edit ] Classification D ICD - 10 : N00 - N29 MeSH : D007674 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy
Foster Kennedy syndrome Other names Gowers–Paton–Kennedy syndrome, Kennedy's phenomenon, Kennedy's syndrome Frontal lobe (on the right) Specialty Neurology Foster Kennedy syndrome is a constellation of findings associated with tumors of the frontal lobe . [1] Although Foster Kennedy syndrome is sometimes called "Kennedy syndrome", [2] it should not be confused with Kennedy disease, or spinal and bulbar muscular atrophy , which is named after William R. Kennedy . Pseudo-Foster Kennedy syndrome is defined as one-sided optic atrophy with papilledema in the other eye but with the absence of a mass. [3] Contents 1 Presentation 2 Diagnosis 3 Treatment 4 History 5 References 6 External links Presentation [ edit ] The syndrome is defined as the following changes: optic atrophy in the ipsilateral eye disc edema in the contralateral eye central scotoma (loss of vision in the middle of the visual fields) in the ipsilateral eye anosmia (loss of smell) ipsilaterally This syndrome is due to optic nerve compression, olfactory nerve compression, and increased intracranial pressure (ICP) secondary to a mass (such as meningioma or plasmacytoma , usually an olfactory groove meningioma). [4] [5] There are other symptoms present in some cases such as nausea and vomiting , memory loss and emotional lability (i.e., frontal lobe signs). [5] Diagnosis [ edit ] Brain tumor can be visualized very well on CT scan, but MRI gives better detail and is the preferred study. ... A later description was written by Wilhelm Uhthoff in 1915. [8] References [ edit ] ^ " Kennedy syndrome " at Dorland's Medical Dictionary ^ " Foster Kennedy syndrome " at Dorland's Medical Dictionary ^ Bansal S, Dabbs T, Long V (2008). "Pseudo-Foster–Kennedy Syndrome due to unilateral optic nerve hypoplasia: a case report" . ... ISBN 978-0-19-856837-7 . ^ a b c Willacy, Hayley. "Foster Kennedy syndrome" . Retrieved 2008-08-13 . ^ Kaplan USMLE step 2 CK Lecture Notes 2018, Surgery ^ Thorofare, NJ (1911).
Many of these genes affect the first oxidative phosphorylation complex. [7] X-linked Leigh syndrome [ edit ] The X-linked recessive pattern of inheritance seen occasionally in cases of Leigh syndrome. ... Female children would need two copies of the faulty gene to be affected by X-linked Leigh syndrome. [1] French Canadian Leigh syndrome [ edit ] The type of Leigh syndrome found at a much higher rate in the Saguenay-Lac-Saint-Jean region of Quebec is caused by a mutation in the LRPPRC gene, located on the small ('p') arm of chromosome 2. [7] [12] Both compound heterozygosity and homozygous mutations have been observed in French Canadian Leigh syndrome. ... Kidney and heart tissues were found to not have a COX deficiency. [12] French Canadian Leigh syndrome has similar symptoms to other types of Leigh syndrome. ... This is not common since the advent of phototherapy. [6] Treatment [ edit ] Succinic acid has been studied, and shown effective for both Leigh syndrome, and MELAS syndrome . [13] [14] A high-fat, low-carbohydrate diet may be followed if a gene on the X chromosome is implicated in an individual's Leigh syndrome. ... S2CID 45323262 . ^ a b c d e f g "Leigh Syndrome" . Online Mendelian Inheritance in Man .
These individuals are often referred to as having maternally inherited Leigh syndrome (MILS). They harbor very high proportions (above 95%) of the mitochondrial DNA mutation. Lower proportions of this mutation are associated with a milder phenotype such as the NARP syndrome (Neurogenic Ataxia and Retinitis Pigmentosa). The genetic cause of a number of cases of Leigh syndrome remains unknown, despite the presence of a specific biochemical defect in some of the cases. ... Genetic counseling In the majority of cases, Leigh syndrome is transmitted in an autosomal recessive manner. ... Prognosis The prognosis of Leigh syndrome is poor, with a life expectancy reduced to only a few years for most patients.
Leigh syndrome is a rare, inherited neurodegenerative condition . ... Complications can lead to impairment of respiratory, heart and kidney function. The term "Leigh-like syndrome" is often used for people with features that are strongly suggestive of Leigh syndrome but who do not meet the diagnostic criteria. The inheritance of Leigh syndrome depends on where the responsible gene is located in each case. ... Nuclear gene-encoded Leigh syndrome may be inherited in an autosomal recessive or X-linked manner. Treatment is based on the symptoms present and depends on the type of Leigh syndrome a person has. While life expectancy depends on the cause of Leigh syndrome in each person, most do not survive past mid-childhood or adolescence.
Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. ... Most genes associated with Leigh syndrome are involved in the process of energy production in mitochondria. ... Many of the gene mutations associated with Leigh syndrome affect proteins in these complexes or disrupt their assembly. ... This pattern of inheritance applies to most of the Leigh syndrome-associated genes contained in nuclear DNA, including SURF1 . ... Occasionally, mutations in mtDNA occur spontaneously, and there is no history of Leigh syndrome in the family. In a small number of affected individuals with mutations in nuclear DNA, Leigh syndrome is inherited in an X-linked recessive pattern .
Find sources: "Nerve compression syndrome" – news · newspapers · books · scholar · JSTOR ( April 2015 ) ( Learn how and when to remove this template message ) Nerve compression syndrome Other names Entrapment neuropathy Radial nerve compression is an example of nerve compression syndrome Specialty Neurology Nerve compression syndrome or compression neuropathy , is a medical condition caused by direct pressure on a nerve . [1] It is known colloquially as a trapped nerve , though this may also refer to nerve root compression (by a herniated disc , for example). ... Nerve injury by a single episode of physical trauma is in one sense a compression neuropathy but is not usually included under this heading. Contents 1 Syndromes 2 Signs/symptoms 3 Causes 4 Pathophysiology 5 Diagnosis 6 Treatment 7 See also 8 References 9 External links Syndromes [ edit ] Upper limb nerve location usually referred to as Median carpal tunnel carpal tunnel syndrome Median ( anterior interosseous ) proximal forearm anterior interosseous syndrome Median pronator teres pronator teres syndrome Median ligament of Struthers Ligament of Struthers syndrome Ulnar cubital tunnel Cubital tunnel syndrome Ulnar Guyon's canal Guyon's canal syndrome Radial axilla Radial nerve compression Radial spiral groove Radial nerve compression Radial ( Posterior interosseous ) proximal forearm posterior interosseous nerve entrapment Radial ( Superficial radial ) distal forearm Wartenberg's Syndrome Suprascapular Suprascapular canal suprascapular nerve entrapment Lower limb, abdomen and pelvis nerve location usually referred to as Common peroneal fibular neck peroneal nerve compression Tibial tarsal tunnel tarsal tunnel syndrome Saphenous Roof of Adductor canal Saphenous nerve entrapment syndrome Lateral cutaneous nerve of thigh inguinal ligament meralgia paraesthetica Sciatic piriformis piriformis syndrome [not always due to entrapment] Iliohypogastric lower abdomen iliohypogastric nerve entrapment Obturator obturator canal obturator nerve entrapment Pudendal pelvis pudendal nerve entrapment Abdominal cutaneous nerves abdominal wall anterior cutaneous nerve entrapment syndrome Signs/symptoms [ edit ] Tingling, numbness, and/ or a burning sensation in the area of the body affected by the corresponding nerve. ... Some compression neuropathies are amenable to surgery : carpal tunnel syndrome and cubital tunnel syndrome are two common examples. ... Massage is an effective adjunct treatment to neural mobilization techniques, which are used to free bound or restricted nerves in neural tension disorders. [2] See also [ edit ] Mononeuropathy Neuropathy Plexopathy Radiculopathy Sciatica Spinal disc herniation Thoracic outlet syndrome References [ edit ] ^ "Nerve Entrapment Syndromes: Background, History of the Procedure, Problem" . 2018-05-23. Cite journal requires |journal= ( help ) ^ a b Orthopedic Assessment in Massage Therapy by Whitney Lowe External links [ edit ] Classification D ICD - 9-CM : 355.9 MeSH : D009408 v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome
Bálint's syndrome Other names Balint-Holmes syndrome, Optic ataxia-gaze apraxia-simultanagnosia syndrome Specialty Neurology Bálint's syndrome is an uncommon and incompletely understood triad of severe neuropsychological impairments: inability to perceive the visual field as a whole ( simultanagnosia ), difficulty in fixating the eyes ( oculomotor apraxia ), and inability to move the hand to a specific object by using vision ( optic ataxia ). [1] It was named in 1909 for the Austro-Hungarian neurologist and psychiatrist Rezső Bálint who first identified it. [2] [3] [4] Bálint's syndrome occurs most often with an acute onset as a consequence of two or more strokes at more or less the same place in each hemisphere. ... Lack of awareness of this syndrome may lead to a misdiagnosis and resulting inappropriate or inadequate treatment. ... The investigators encourage more careful recognition of the syndrome to allow adequate rehabilitation and environmental adaptation. [30] Criticism [ edit ] The validity of Bálint's syndrome has been questioned by some. [ by whom? ... L. (1992). "Balint's syndrome--visual disorientation". Ugeskrift for Laeger . 154 (21): 1492–4. ... PMID 3390033 . ^ Rizzo, M (1993). " ' Bálint's syndrome' and associated visuospatial disorders".
Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions.
Overview POEMS syndrome is a rare blood disorder that damages your nerves and affects other parts of your body. ... This is an essential feature in the diagnosis of POEMS syndrome. Organomegaly. Enlarged spleen, liver or lymph nodes. ... More color than normal on your skin, red spots, possibly thicker skin, and increased facial or leg hair. The cause of POEMS syndrome isn't known. But people with POEMS syndrome have an increased number of plasma cells. ... Treatment for POEMS syndrome might improve your symptoms but doesn't cure the condition. ... The outlook for people with POEMS syndrome has improved greatly over the past decade or so.
POEMS syndrome is a rare, mulitisystem disorder. ... The underlying cause of the disorder is not well understood. POEMS syndrome is a chronic disorder, with a median survival time of 8-14 years.
POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). ... Differential diagnosis The main differential diagnoses are chronic inflammatory demyelinating polyneuropathy, AL amyloidosis and Guillain-Barré syndrome (see these terms). Monoclonal gammopathy of undetermined significance (MGUS) and should also be considered.
Rett syndrome is a brain disorder that occurs almost exclusively in girls. ... Rett syndrome is part of a spectrum of disorders with the same genetic cause. Other disorders on the spectrum include PPM-X syndrome, MECP2 duplication syndrome, and MECP2 -related severe neonatal encephalopathy. ... These conditions, including FOXG1 syndrome and CDKL5 deficiency disorder, were previously thought to be variant forms of Rett syndrome. ... Learn more about the gene associated with Rett syndrome MECP2 Inheritance Pattern In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family.