Summary Clinical characteristics. Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD. Age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD. Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. As the disease progresses, language, cognitive, and gross and fine motor skills regress. Later signs include spasticity, pain, seizures, and compromised vision and hearing.
Due to the high degree of homology between the CYP21A2 gene and the CYP21A1P pseudogene, and the complexity of the locus, research on the molecular level is difficult. [25] The particularly mild clinical symptoms of LOCAH such as hyperandrogenism , hirsutism and acne or infertility overlap with other diseases such as polycystic ovary syndrome . Biochemical parameters like 17α-hydroxyprogesterone may not be elevated in very mild cases of LOCAH, and may vary between labs that makes interpretation difficult. ... "Non-classic adrenal hyperplasia due to the deficiency of 21-hydroxylase and its relation to polycystic ovarian syndrome". Frontiers of Hormone Research . 40 : 158–70. doi : 10.1159/000342179 .
Senile osteoporosis Other names Osteoporosis type II Senile osteoporosis has been recently recognized as a geriatric syndrome with a particular pathophysiology. ... "Understanding the mechanisms of senile osteoporosis: new facts for a major geriatric syndrome". Journal of the American Geriatrics Society . 56 (5): 935–41. doi : 10.1111/j.1532-5415.2008.01764.x .
Journal of Acquired Immune Deficiency Syndromes . 52 (4): 498–508. doi : 10.1097/qai.0b013e3181ac12a8 . ... Retrieved 2017-12-01 . v t e HIV/AIDS in North America Sovereign states Antigua and Barbuda Bahamas Barbados Belize Canada Costa Rica Cuba Dominica Dominican Republic El Salvador Grenada Guatemala Haiti Honduras Jamaica Mexico Nicaragua Panama Saint Kitts and Nevis Saint Lucia Saint Vincent and the Grenadines Trinidad and Tobago United States Dependencies and other territories Anguilla Aruba Bermuda Bonaire British Virgin Islands Cayman Islands Curaçao Greenland Guadeloupe Martinique Montserrat Puerto Rico Saint Barthélemy Saint Martin Saint Pierre and Miquelon Saba Sint Eustatius Sint Maarten Turks and Caicos Islands United States Virgin Islands v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region
Please help improve this article if you can. ( November 2010 ) ( Learn how and when to remove this template message ) Dysprosody , which may manifest as pseudo-foreign accent syndrome , refers to a disorder in which one or more of the prosodic functions are either compromised or eliminated completely. [1] Prosody refers to the variations in melody, intonation , pauses, stresses, intensity, vocal quality, and accents of speech. [2] As a result, prosody has a wide array of functions, including expression on linguistic, attitudinal, pragmatic, affective and personal levels of speech. [3] People diagnosed with dysprosody most commonly experience difficulties in pitch or timing control. [3] People diagnosed with the condition can comprehend language and vocalize what they intend to say, however, they are not able to control the way in which the words come out of their mouths. ... "Communicative Disorders Clinic Diagnoses Rare Foreign Accent Syndrome in Sarasota Woman" . University of Central Florida-College of Health and Public Affairs.
. ^ "An Update on Human Immuno Deficiency Virus/Acquired Immuno Deficiency Syndrome (HIV/AIDS)" (PDF) . Bhutan Ministry of Health. 2010-07-01. ... External links [ edit ] AIDS epidemic update 2005 (PDF) Specific country data from UNAIDS AIDSPortal Asia page Latest research, case studies and news stories AIDSPortal Central Asia page Latest research, case studies and news stories v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region v t e HIV/AIDS in Asia Sovereign states Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor (Timor-Leste) Egypt Georgia India Indonesia Iran Iraq Israel Japan Jordan Kazakhstan North Korea South Korea Kuwait Kyrgyzstan Laos Lebanon Malaysia Maldives Mongolia Myanmar Nepal Oman Pakistan Philippines Qatar Russia Saudi Arabia Singapore Sri Lanka Syria Tajikistan Thailand Turkey Turkmenistan United Arab Emirates Uzbekistan Vietnam Yemen States with limited recognition Abkhazia Artsakh Northern Cyprus Palestine South Ossetia Taiwan Dependencies and other territories British Indian Ocean Territory Christmas Island Cocos (Keeling) Islands Hong Kong Macau Book Category Asia portal
Significant amounts of retinotaurine are excreted in the bile, [46] and this retinol conjugate is thought to be an excretory form, as it has little biological activity . [47] Red yeast rice ("cholestin") – significantly reduces toxic effects in rats. [48] Vitamin K prevents hypoprothrombinemia in rats and can sometimes control the increase in plasma/cell ratios of vitamin A. [49] See also [ edit ] Vitamin poisoning Far Eastern Party Retinoic acid syndrome Piblokto References [ edit ] ^ a b c https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001390/ [ full citation needed ] ^ Gorospe M, Fadare O (May 2007). ... External links [ edit ] Classification D ICD - 10 : E67.0 ICD - 9-CM : 278.2 MeSH : D006986 DiseasesDB : 13888 External resources MedlinePlus : 000350 eMedicine : med/2382 Facts about Vitamin A and Carotenoids , from the National Institutes of Health 's Office of Dietary Supplements. v t e Poisoning Toxicity Overdose History of poison Inorganic Metals Toxic metals Beryllium Cadmium Lead Mercury Nickel Silver Thallium Tin Dietary minerals Chromium Cobalt Copper Iron Manganese Zinc Metalloids Arsenic Nonmetals Sulfuric acid Selenium Chlorine Fluoride Organic Phosphorus Pesticides Aluminium phosphide Organophosphates Nitrogen Cyanide Nicotine Nitrogen dioxide poisoning CHO alcohol Ethanol Ethylene glycol Methanol Carbon monoxide Oxygen Toluene Pharmaceutical Drug overdoses Nervous Anticholinesterase Aspirin Barbiturates Benzodiazepines Cocaine Lithium Opioids Paracetamol Tricyclic antidepressants Cardiovascular Digoxin Dipyridamole Vitamin poisoning Vitamin A Vitamin D Vitamin E Megavitamin-B 6 syndrome Biological 1 Fish / seafood Ciguatera Haff disease Ichthyoallyeinotoxism Scombroid Shellfish poisoning Amnesic Diarrhetic Neurotoxic Paralytic Other vertebrates amphibian venom Batrachotoxin Bombesin Bufotenin Physalaemin birds / quail Coturnism snake venom Alpha-Bungarotoxin Ancrod Batroxobin Arthropods Arthropod bites and stings bee sting / bee venom Apamin Melittin scorpion venom Charybdotoxin spider venom Latrotoxin / Latrodectism Loxoscelism tick paralysis Plants / fungi Cinchonism Ergotism Lathyrism Locoism Mushrooms Strychnine 1 including venoms , toxins , foodborne illnesses .
Journal of Acquired Immune Deficiency Syndromes . 51, Supplement 1: S26–34. doi : 10.1097/QAI.0b013e3181a2647b . ... Retrieved 2018-10-29 . v t e HIV/AIDS in North America Sovereign states Antigua and Barbuda Bahamas Barbados Belize Canada Costa Rica Cuba Dominica Dominican Republic El Salvador Grenada Guatemala Haiti Honduras Jamaica Mexico Nicaragua Panama Saint Kitts and Nevis Saint Lucia Saint Vincent and the Grenadines Trinidad and Tobago United States Dependencies and other territories Anguilla Aruba Bermuda Bonaire British Virgin Islands Cayman Islands Curaçao Greenland Guadeloupe Martinique Montserrat Puerto Rico Saint Barthélemy Saint Martin Saint Pierre and Miquelon Saba Sint Eustatius Sint Maarten Turks and Caicos Islands United States Virgin Islands v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region
Some weeks, months, years, or decades thereafter, a very small fraction of these carriers, particularly those with an immunodeficiency , develop any one of various EBV-associated benign or malignant diseases. [1] The EBV-associated diseases include: 1) some cases of non-lymphoproliferative disorders such as the Alice in Wonderland syndrome , [2] cerebellar ataxia , particularly childhood cases of this disorder , [3] and two autoimmune diseases , multiple sclerosis and systemic lupus erythematosis ; [4] [5] [6] [7] 2) non-lymphoid cancers such as EBV+ gastric cancer , [8] most if not all cases of nasopharyngeal cancer , and some cases of soft tissue sarcoma and leiomyosarcoma ; [9] and 3) Epstein-Barr virus-associated lymphoproliferative diseases such as chronic active EBV infection , EBV+ hemophagocytic lymphohistiocytosis , EBV+ Burkitt lymphoma , [1] EBV+ Hodgkin lymphoma , [10] and the EBV+ diffuse large B-cell lymphomas which include as a subtype, DLBCL-CI . [1] DLBCL-CI is a highly aggressive malignancy that most commonly afflicts elderly males. ... PMID 29885408 . ^ Mastria G, Mancini V, Viganò A, Di Piero V (2016). "Alice in Wonderland Syndrome: A Clinical and Pathophysiological Review" .
ICD-10 states in relation to the inhibited form only that the syndrome probably occurs as a direct result of severe parental neglect, abuse, or serious mishandling. ... RAD can also be confused with neuropsychiatric disorders such as autism , pervasive developmental disorder , childhood schizophrenia and some genetic syndromes. Infants with this disorder can be distinguished from those with organic illness by their rapid physical improvement after hospitalization. [9] Autistic children are likely to be of normal size and weight and often exhibit a degree of intellectual disability.
Overview Reactive attachment disorder is a rare but serious condition in which an infant or young child doesn't establish healthy attachments with parents or caregivers. Reactive attachment disorder may develop if the child's basic needs for comfort, affection and nurturing aren't met and loving, caring, stable attachments with others are not established. With appropriate treatment, children who have reactive attachment disorder may develop more stable and healthy relationships with caregivers and others. Treatments for reactive attachment disorder include learning how to create a stable, nurturing environment and providing positive child and caregiver interactions. Parent or caregiver counseling and education can help. Symptoms Reactive attachment disorder usually starts in infancy.
Called a disorganized/disoriented style, this reunion pattern can involve looking dazed or frightened, freezing in place, backing toward the caregiver or approaching with head sharply averted, or showing other behaviors that seem to imply fearfulness of the person who is being sought. [19] Disorganized attachment has been considered a major risk factor for child psychopathology, as it appears to interfere with regulation or tolerance of negative emotions and may thus foster aggressive behavior. [20] Disorganized patterns of attachment have the strongest links to concurrent and subsequent psychopathology, and considerable research has demonstrated both within-the-child and environmental correlates of disorganized attachment. [21] Possible mechanisms [ edit ] One study has reported a connection between a specific genetic marker and disorganized attachment (not RAD) associated with problems of parenting. [22] Another author has compared atypical social behavior in genetic conditions such as Williams syndrome with behaviors symptomatic of RAD. [23] Typical attachment development begins with unlearned infant reactions to social signals from caregivers. ... ISBN 0-415-00640-6 . v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy v t e Attachment theory Theory Affectional bond Attachment in adults Attachment in children Attachment disorder Attachment and Health Attachment measures Attachment theory Dynamic-Maturational Model of Attachment and Adaptation Fathers as attachment figures Human bonding Maternal deprivation Object relations theory Reactive attachment disorder Notable theorists Mary Ainsworth William E.
Nomenclature Earlier reports sometimes referred to PXE as Gröndblad-Strandberg syndrome. Prevalence Prevalence data are not available. ... HBB Sickle thalassemia (see Sickle Cell Disease) AR Angioid streaks in the retina 3 Although similar, the angioid streaks are not concurrent w/skin lesions. LEMD3 Buschke-Ollendorf syndrome (BOS) (OMIM 166700) AD Osteopoikilosis assoc w/cutaneous papules w/accumulation of elastin in dermis On skin biopsy, PXE does not have the same extent of abnormal collagen fibers near the calcified elastic fibers.
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange.
Aessopos et al. (2002) reviewed elastic tissue abnormalities resembling PXE in beta-thalassemia and sickling syndromes. Hamlin et al. (2003) reported the clinical and histopathologic manifestations of 10 beta-thalassemia patients with PXE-like skin lesions in combination with ocular and/or vascular symptoms and calcified elastic fibers.
A number sign (#) is used with this entry because individuals heterozygous for mutation in the ABCC6 gene (603234) in the overwhelming majority of cases express limited manifestations of the pseudoxanthoma elasticum phenotype. In rare cases heterozygosity for mutations in the ABCC6 gene appears to result in expression of the full PXE phenotype in 2 generations (see 603234.0018). A digenic form of PXE resulting from an ABCC6 mutation (603234.0001) and a GGCX mutation (137167.0012) has been reported. For a phenotypic description of PXE, see 264800. Clinical Features Hausser and Anton-Lamprecht (1991) described a family in which the mother and grandmother died because of major vascular complications of PXE. Three adolescent sibs showed no clinical manifestations of PXE. However, ultrastructural investigation of overtly normal skin in sites of predilection gave a positive diagnosis.
A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls. Epidemiology Prevalence is estimated at between 1/40,000 and 1/100,000 in the general population, with, for unknown reason, female predominance (female to male ratio 4:1). Clinical description Disease onset is typically in adolescence or young adulthood but may appear at any age. The first clinical sign is almost always small yellow papules on the nape and sides of the neck and in flexural areas. The papules subsequently coalesce, and the skin becomes loose and wrinkled.
Pseudoxanthoma elasticum , PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs ( claudication ); or bleeding in the gastrointestinal tract , particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders , and by having regular physical examinations with their primary physician.
One month later, she developed pulmonary hypertension and renal failure, leading after renal biopsy to the diagnosis of hemolytic uremic syndrome. Investigations showed reduced methionine synthase activity under standard reducing conditions, compatible with cblG complementation group.
Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia . Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxocobalamin (vitamin B12) .
Action myoclonus – renal failure syndrome (progressive myoclonic epilepsy 4 with or without renal failure, EPM4) is associated with mutation of SCARB2.
PRICKLE1 -related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1 -related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement.
Hepatic steatosis occurred in the absence of obesity or features of the metabolic syndrome; all patients were lean. Some patients showed hepatic fibrosis, suggesting progression of liver damage.
Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year.
A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
Research has shown an association between colic and the following problems with parent well-being: Increased risk of postpartum depression in mothers Early cessation of breast-feeding Feelings of guilt, exhaustion, helplessness or anger Shaken baby syndrome The stress of calming a crying baby has sometimes prompted parents to shake or otherwise harm their child.
"Cholic" redirects here. For the acid, see Cholic acid . Colic Other names Cholic The cholic (1819) George Cruikshank Pronunciation / ˈ k ɒ l . ɪ k / , KOL -ik Specialty Pediatrics Colic is a form of pain that starts and stops abruptly. It occurs due to muscular contractions of a hollow tube (colon, gall bladder , ureter , etc.) in an attempt to relieve an obstruction by forcing content out. It may be accompanied by sweating and vomiting . [1] Types include: Baby colic , a condition, usually in infants, characterized by incessant crying Biliary colic , blockage by a gallstone of the common bile duct or cystic duct Devon colic or painter's colic, an affliction caused by lead poisoning Horse colic , a potentially fatal condition experienced by horses, caused by intestinal displacement or blockage Renal colic , a pain in the flank, characteristic of kidney stones The term is from Greek κολικός kolikos , "relative to the colon ". References [ edit ] ^ Bhat, Sriram (2013). SRB's Manual of Surgery . p. 364. ISBN 9789350259443 . External links [ edit ] Classification D ICD - 10 : R10.4 ICD - 10-CM : R10.83 MeSH : D003085 Look up colic in Wiktionary, the free dictionary.
Then a treatment called dialysis or a kidney transplant is needed to live. Nephrotic syndrome. This is a group of problems that can be caused by damage to the glomeruli.
Crohn's disease is one intestine problem that can lead to enteric hyperoxaluria. Another is short bowel syndrome, which can happen when parts of the small intestine are removed during surgery.
This condition is sometimes called blind loop syndrome. small intestinal bacterial overgrowth (SIBO) commonly results when a circumstance — such as surgery or disease — slows the passage of food and waste products in the digestive tract, creating a breeding ground for bacteria.
Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus). Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body.
For a general phenotypic description and a discussion of genetic heterogeneity of episodic kinesigenic dyskinesia (EKD), also referred to as paroxysmal kinesigenic choreoathetosis (PKC), see EKD1 (128200). Clinical Features Valente et al. (2000) reported a large Indian kindred in which 13 individuals received a definite diagnosis of PKC. Family history indicated that 4 deceased individuals had been affected. The male:female ratio was 1.8:1. Age at onset ranged from 7 to 13 years, and all had brief attacks of up to 2 minutes consisting of dystonic or choreic movements precipitated by sudden movements, with a frequency of 1 to 20 episodes per day. None of the affected patients had a history of benign infantile convulsions.
Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. Epidemiology The prevalence is estimated to be 1/150,000 worldwide. PKD is the most common form of paroxysmal dyskinesia. Males are more commonly affected than females (sex ratio of 3 or 4 to 1) in the sporadic form. Clinical description The age of disease onset is typically in childhood or adolescence with a peak in puberty. PKD is triggered by a sudden movement from rest (such as rising from a chair or starting to walk, or by exercise) and is characterized by brief attacks of dystonia, chorea or athetosis movements preceded by aura (that usually last less than 1 min), without alteration of consciousness.
Familial PKD, which means the individual has a family history of the disorder, is more common, but sporadic cases are also seen. [3] Secondary PKD can be caused by many other medical conditions such as multiple sclerosis (MS) , stroke , pseudohypoparathyroidism , [4] hypocalcemia , hypoglycemia , hyperglycemia , [3] central nervous system trauma, or peripheral nervous system trauma. [5] PKD has also been linked with infantile convulsions and choreoathetosis (ICCA) syndrome, in which patients have afebrile seizures during infancy ( benign familial infantile epilepsy ) and then develop paroxysmal choreoathetosis later in life. [6] This phenomenon is actually quite common, with about 42% of individuals with PKD reporting a history of afebrile seizures as a child. [6] Contents 1 Genetics 2 Pathophysiology 2.1 SPECT studies 2.2 fMRI studies 2.3 Diffusion tensor imaging 3 Diagnosis 4 Treatment 5 History 6 See also 7 References 8 External links Genetics [ edit ] Paroxysmal kinesigenic dyskinesias are often inherited in an autosomal dominant fashion and several genes have now been identified where mutations can cause this disease.
Paroxysmal kinesigenic choreoathetosis involves episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. Cold, hyperventilation, and mental tension have also been reported to trigger attacks in some cases. The exact type of abnormal movement varies among affected individuals but may include prolonged muscle contractions, writhing motions, or fast, "dance-like" motions. One or both sides of the body may be affected. The episodes can sometimes be preceded by a crawling or tingling sensation in the affected body part and do not involve a loss of consciousness. Individuals with paroxysmal kinesigenic choreoathetosis usually begin to show signs and symptoms of the disorder during childhood or adolescence.