A number sign (#) is used with this entry because butyrylcholinesterase deficiency (BCHED) can be caused by homozygous or compound heterozygous mutation in the BCHE gene (177400) on chromosome 3q26. Severe cholinesterase deficiency results in postanesthetic apnea. Description Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%).
Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia (choline esters). These drugs relax the muscles used for movement, including those used for breathing. Normally, the muscles are able to move again a few minutes after the drugs are given. People with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after these drugs are given. They therefore may need mechanical ventilation until the drugs are cleared from the body.
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. Epidemiology The prevalence of BChE deficiency is highest in the Caucasian population with between 3.4 and 4% of the population displaying a partial enzyme deficiency leading to slightly prolonged apnoea (between 5 minutes and 1 hour) and 1 in 2500 individuals showing a prolongation of more than 1 hour. Individuals with undetectable levels of BChE activity display a severe prolongation lasting more than 8 hours. The prevalence of this severe form is estimated at 1 in 100 000 individuals.
Causes [ edit ] Conditions that can cause disfigurement include: severe acne acromegaly amniotic band constriction amputation argyria birthmarks burns cancer cataracts circumcision cleft lip eczema elephantiasis erysipelas frostbite gangrene gigantomastia gynecomastia keloids leprosy necrosis McCune–Albright syndrome neurofibromatosis noma paralysis proteus syndrome radiation poisoning scalping scars smallpox severe strabismus synkinesis syphilis vitiligo severe warts Plastic surgery or reconstructive surgery is available in many cases to disfigured people.
Damage to the tiny, filtering blood vessels in the kidneys can result in nephrotic syndrome. In nephrotic syndrome, decreased levels of protein in the blood can lead to edema.
Dry mouth can be due to certain health conditions, such as diabetes, stroke, yeast infection (thrush) in your mouth or Alzheimer's disease, or due to autoimmune diseases, such as Sjogren's syndrome or HIV/AIDS. Snoring and breathing with your mouth open also can contribute to dry mouth. ... If your doctor suspects your dry mouth is caused by Sjogren's syndrome, a small sample of cells (biopsy) taken from salivary glands in your lip may be sent for testing.
Diabetic ketoacidosis is resolved with insulin infusion, intravenous fluids, electrolyte replacement and supportive care. [1] Alcoholic ketoacidosis is treated with intravenous dextrose and supportive care and usually does not require insulin. [2] Starvation ketoacidosis can be resolved with intravenous dextrose with attention to electrolyte changes that can occur with refeeding syndrome . [5] Epidemiology [ edit ] Certain populations are predisposed to develop ketoacidosis including people with diabetes, people with a history of prolonged and heavy alcohol use, pregnant women, breastfeeding women, children, and infants. ... "Toxigenic and Metabolic Causes of Ketosis and Ketoacidotic Syndromes". Critical Care Clinics . 28 (4): 601–631. doi : 10.1016/j.ccc.2012.07.001 . ^ a b c Owen, Oliver E.; Caprio, Sonia; Reichard, George A.; Mozzoli, Maria A.; Boden, Guenther; Owen, Rodney S.
However, the main causes are: [5] Annular pancreas Adhesions Systemic sclerosis Superior mesenteric artery syndrome Aneurysm . Duodenal atresia Megaduodenum due to its duodenal ganglionitis is an unusual condition, Megaduodenum's similarity to megacolon and megaesophagus diseases can better explain the most plausible causes of it. [6] In addition, some theories state that megaduodenum can be associated with the following causes: post-vagotomy , vitamin deficiency , and collagen diseases . [7] Mechanism/Pathophysiology [ edit ] Megaduodenum can be passed down through families, it occurs when a patient inherits one copy of a muted megaduodenum gene from one parent. [8] When the gene gets interrupted in the cells, it causes tumors. ... ISSN 0002-9270 . ^ a b Ranschaert, Erik. "Superior mesenteric artery syndrome | Radiology Reference Article | Radiopaedia.org" .
A rare T-cell non-Hodgkin lymphoma characterized by a proliferation of cytotoxic T-cells, usually gamma delta T-cells, with involvement of the liver and spleen, but without involvement of lymph nodes. The bone marrow is consistently affected. Patients typically present during adolescence or young adulthood with hepatosplenomegaly, pancytopenia, and systemic symptoms. Peripheral blood involvement may develop later in the disease course. There is a clear male preponderance. The disease often occurs in the context of long-term immunosuppression. The course is aggressive with poor therapy response.
A number sign (#) is used with this entry because of evidence that distal hereditary motor neuronopathy type VIII (HMN8) is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome 12q24. See also hereditary motor and sensory neuropathy 2C (HMSN2C; 606071) and scapuloperoneal spinal muscular atrophy (SPSMA; 181405), allelic disorders with overlapping phenotypes. For a general phenotypic description and a discussion of genetic heterogeneity of distal spinal muscular atrophy, see distal hereditary motor neuronopathy type I (HMN1; 182960). Clinical Features Fleury and Hageman (1985) reported a large 4-generation Dutch family in which 21 individuals had a nonprogressive congenital lower motor neuron disorder restricted to the lower part of the body. Fifteen patients had arthrogryposis, indicative of antenatal onset. At birth, the proband showed bilateral talipes equinovarus and flexion contractures of the knees and hips.
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Epidemiology The prevalence is unknown but the disease is extremely rare. Only about 35 cases have been reported in the world literature. Clinical description The age at diagnosis is usually between 50 and 60 years. The most common presenting symptoms are those of a lymphoproliferative malignancy although peripheral lymphadenopathy is less common than in CLL.
Differential diagnosis Differential diagnoses include progressive familial intrahepatic cholestasis, diseases that present with neonatal cholestasis, which includes alpha-1-antitrypsin deficiency (ZZ phenotype), tyrosinemia type 1, biliary atresia, choledochal cyst, cystic fibrosis, Alagille syndrome, galactosemia and hereditary fructose intolerance or diseases that present with growth failure (panhypopituitarism) (see these terms).
Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced. The signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. Affected infants usually have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile.
A number sign (#) is used with this entry because of evidence that this form of congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, referred to here as CBAS2, is caused by homozygous or compound heterozygous mutation in the AKR1D1 gene (604741) on chromosome 7q33. For a general description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765. Clinical Features Setchell et al. (1988) reported monozygotic male twins who presented at birth with cholestatic jaundice due to severe intrahepatic cholestasis. A previously born sib had died at the age of 4 months of hepatic failure following an identical course. Using fast atom bombardment ionization-mass spectrometry, the authors found increased urinary excretion and predominance of taurine-conjugated unsaturated hydroxy-oxo-bile acids.
The authors concluded that DFNA20 and DFNA26 are probably the same or allelic disorders. They also noted that Usher syndrome type 1G (USH1G; 606943) maps to the same region and may be allelic.
Clinical Features Cantu et al. (1991) described 2 unrelated patients, a 21-year-old male and an 11-year-old female, with a form of osteochondrodysplasia that was later called spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS), Fantasy Island syndrome, or Tattoo dysplasia (Cantu, 1995; Lachman, 2007).
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Description Paragangliomas-6 (PGL6) is an adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas.
Review of Reticulate Pigment Disorders Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; 179850), reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK.
Reticulate acropigmentation of Kitamura Other names RAK [1] Specialty Dermatology Reticulate acropigmentation of Kitamura consists of linear palmar pits and pigmented macules 1 to 4 mm in diameter on the volar and dorsal aspects of the hands and feet, usually inherited in an autosomal-dominant fashion. [2] : 856 [3] [4] Contents 1 Genetics 2 See also 3 References 4 External links Genetics [ edit ] This condition is associated with mutations in the a disintegrin and metalloproteinase domain-containing protein 10 ( ADAM10 ) gene. This association was first shown in 2013. See also [ edit ] Skin lesion List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Reticulate acropigmentation of Kitamura" . www.orpha.net . Retrieved 23 April 2019 . ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders.
A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.
Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body's folds and creases. Other features may include abnormal growths and pus-filled swellings in the armpits, back, and neck. Symptoms typically develop in late childhood or in adolescence and progress over time. The classic form of Dowling-Degos disease occurs when the KRT5 gene is not working correctly. This condition is inherited in an autosomal dominant pattern. The skin changes caused by Dowling-Degos disease can be distressing, but they typically don't cause health problems.
Description Highly active antiretroviral therapy (HAART) has reduced mortality associated with acquired immunodeficiency syndrome (AIDS; see 609423) by at least 70%.