Many of these individuals eventually develop a glomerulopathy leading to glomerular proteinuria (present in as many as 30%) and, in some, the nephrotic syndrome . Co-inheritance of microdeletions in the - globin gene ( thalassemia ) appear to protect against the development of nephropathy and are associated with lower mean arterial pressure and less protein in the urine .
Clinical Features Uusimaa et al. (2018) studied 2 Finnish brothers and an unrelated Finnish boy with a multiorgan syndrome that the authors designated 'FINCA' for the features of fibrosis, neurodegeneration, and cerebral angiomatosis.
The DSM-5 motor disorders include developmental coordination disorder , stereotypic movement disorder , and the tic disorders including Tourette syndrome . [2] Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 References Signs and symptoms [ edit ] Motor disorders are malfunctions of the nervous system that cause involuntary or uncontrollable movements or actions of the body. [3] These disorders can cause lack of intended movement or an excess of involuntary movement. [4] Symptoms of motor disorders include tremors, jerks, twitches, spasms, contractions, or gait problems.
Differential diagnosis Differential diagnoses include all the other forms of SM as well as other causes of MC activation syndromes (MCAS): primary (clonal, but not fulfilling SM diagnostic criteria) MCAS; secondary MCAS where an IgE-dependent allergy or another reactive inflammatory disease process is present; and idiopathic MCAS where neither clonal MC nor an IgE-dependent allergy or another underlying condition/disease can be documented.
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. Epidemiology The prevalence is unknown. Less than 60 cases have been reported worldwide to date. Clinical description Most patients with CACT deficiency have a severe phenotype presenting within the first 48 hours of life as hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and arrhythmias, skeletal muscle damage, liver dysfunction and hypothermia. Neurological involvement with encephalopathy, epilepsy and developmental delay are also noted. Some patients present as a sudden infant death. A rare milder phenotype presenting in infancy/early childhood is also described which manifests with episodes of hypoketotic hypoglycemia and hyperammonemia often precipitated by fasting and/or intercurrent illness.
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy). Many infants with CACT deficiency do not survive the newborn period. Some affected individuals have a less severe form of the condition and do not develop signs and symptoms until early childhood.
A number sign (#) is used with this entry because carnitine-acylcarnitine translocase deficiency (CACTD) is caused by homozygous or compound heterozygous mutation in the SLC25A20 (613698) gene on chromosome 3p21. Description Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.
Carnitine-acylcarnitine translocase (CACT) deficiency is a disease that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter (CACT) that disrupts carnitine's role in processing long-chain fatty acids. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type is severe and happens in newborns. A milder, less common type happens in older infants and children.
Mirror movements may also be present in certain other conditions with a wider range of signs and symptoms (syndromes). Frequency Congenital mirror movement disorder is a very rare disorder.
The individuals had a more favorable outcome compared to unfavorable developmental outcomes associated with syndromic forms of ACC. Marsh et al. (2017) concluded that prenatal detection of isolated ACC related to a pathogenic DCC mutation is indicative of a lower risk of a poor neurodevelopmental outcome, with implications for genetic counseling.
A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.
Congenital mirror movement disorder (CMM) is a rare disorder characterized by persistent, involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body. Mirroring movements are common in early stages of life during development, but they typically disappear during childhood when neurologic development of motor pathways is complete. Mirror movements that do not disappear and persist into adulthood are considered abnormal. In people with CMM, no other neurologic abnormalities are present, distinguishing CMM from other neurologic disorders that cause abnormal mirror movements. CMM can be caused by mutations in the RAD51 or DCC genes. In some cases, the cause is unknown, but it is likely that mutations in other, unidentified genes are also responsible for CMM.
See also: Xanthoma Xanthelasma Other names Xanthelasma palpebrarum Pronunciation / ˌ z æ n θ ɪ ˈ l æ z m ə / Specialty Ophthalmology Xanthelasma is a sharply demarcated yellowish deposit of cholesterol underneath the skin. [1] It usually occurs on or around the eyelids ( xanthelasma palpebrarum , abbreviated XP). [1] [2] While they are neither harmful to the skin nor painful , these minor growths may be disfiguring and can be removed. [1] There is no high-quality evidence that xanthelasma deposits are related to blood low-density lipoprotein levels or increased risk of atherosclerosis . [3] A xanthelasma may be referred to as a xanthoma when becoming larger and nodular, assuming tumorous proportions. [4] Xanthelasma is often classified simply as a subtype of xanthoma. [5] Contents 1 Diagnosis 2 Treatment 3 Prognosis 4 Epidemiology 5 Etymology 6 See also 7 References 8 External links Diagnosis [ edit ] Xanthelasma in the form of XP can be diagnosed from clinical impression, although in some cases it may need to be distinguished ( differential diagnosis ) from other conditions, especially necrobiotic xanthogranuloma , syringoma , palpebral sarcoidosis , sebaceous hyperplasia , Erdheim–Chester disease , lipoid proteinosis ( Urbach–Wiethe disease ), and the syndrome of adult-onset asthma and periocular xanthogranuloma (AAPOX). [2] Differential diagnosis can be accomplished by surgical excision followed by microscopic examination by a pathologist ( biopsy to determine histopathology ). [2] The typical clinical impression of XP is soft, yellowish papules , plaques, or nodules , symmetrically distributed on the medial side of the upper eyelids; sometimes the lower eyelids are affected as well. [2] Treatment [ edit ] Xanthelasmata can be removed with a trichloroacetic acid peel, surgery, lasers or cryotherapy .
Familial prion diseases, which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI).
A number sign (#) is used with this entry because familial Creutzfeldt-Jakob disease can be caused by mutation in the prion protein gene (PRNP; 176640). Gerstmann-Straussler disease (GSD; 137440) and familial fatal insomnia (FFI; 600072) are 2 other allelic inherited prion diseases caused by mutation in the PRNP gene. Description The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Acquired prion diseases include iatrogenic CJD, kuru (245300), variant CJD (vCJD) in humans, scrapie in sheep, and bovine spongiform encephalopathy (BSE) in cattle.
A subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD , and iatrogenic and variant CJD (vCJD).
Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.
Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year.
A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).
If hypercholesterolemia is not controlled with CDCA, an HMG-CoA reductase inhibitor ("statins" such as simvastatin ) can also be used. [5] Eponym [ edit ] It was formerly known as "Van Bogaert–Scherer–Epstein syndrome". [6] [7] See also [ edit ] Sitosterolemia List of cutaneous conditions References [ edit ] ^ a b Online Mendelian Inheritance in Man (OMIM): 213700 ^ a b Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A (May 2008).
Verrips et al. (1999) described 7 Dutch patients from 6 families with a slowly progressive, mainly spinal cord syndrome that existed for many years before the classic CTX symptomatology became manifest.
Nomenclature Terms used in the past for cerebrotendinous xanthomatosis and no longer in use include the following: Cerebral cholesterinosis Cerebrotendinous cholesterosis Van Bogaert-Scherer-Epstein syndrome Prevalence The prevalence of CTX is estimated at 0.13:100,000 individuals (see Orphanet: Prevalence and incidence of rare diseases: Bibilographic data [pdf]).
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in the body in the form of fatty yellow nodules called xanthomas. These xanthomas are most commonly found in the brain and in connective tissue called tendons that attach muscle to bone, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons). People with cerebrotendinous xanthomatosis often develop neurological problems in early adulthood that are thought to be caused by an abnormal accumulation of fats and an increasing number of xanthomas in the brain. These neurological problems include recurrent seizures (epilepsy), movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), decline in intellectual function (dementia), hallucinations, and depression.
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. Epidemiology More than 300 patients have been reported worldwide. Prevalence is estimated to be approximately 1/50,000 among Caucasians. Clinical description The initial clinical manifestation may be neonatal cholestasis or chronic diarrhea from infancy. In 75% of cases, cataract is the first finding, often appearing in childhood. Infants may present with cholestasis and liver dysfunction. Xanthomata may appear in the 2nd or 3rd decade of life, in the Achilles and other tendons (elbow, hand, patella, neck).
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body ( lipid storage disease ). People with this disorder cannot break down certain lipids effectively (such as cholesterol), so these fats form fatty yellow nodules called xanthomas, that accumulate in the body, especially in the brain and the tendons that attach muscle to bone, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons). Symptoms may include diarrhea, clouding of the lens of the eyes (cataracts), tendon problems and progressive neurologic problems, such as epilepsy, movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), dementia, hallucinations, and depression. Other symptoms may include brittle bones that are prone to fracture ( osteoporosis ) and an increased risk of developing heart or lung failure because of lipid buildup. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, coenzyme Q 10 and surgery to remove cataracts.
But some people may have higher exposure if they drink contaminated well water or have a job that involves producing or using arsenic. Inherited syndromes that cause skin cancer. Certain rare genetic diseases can increase the risk of basal cell carcinoma, including nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome) and xeroderma pigmentosum.