Adrenal crisis Other names Addisonian crisis and acute adrenal insufficiency Specialty Emergency medicine , Endocrinology Symptoms Fever , lethargy , hyperkalemia , hyponatremia , hypotension , diarrhea , vomiting , convulsions [1] Causes Addison's disease , Congenital adrenal hyperplasia , Waterhouse–Friderichsen syndrome , hypopituitarism Adrenal crisis is a potentially life-threatening medical condition requiring immediate emergency treatment. It is a constellation of symptoms that indicate severe adrenal insufficiency caused by insufficient levels of the hormone cortisol . [2] This may be the result of either previously undiagnosed or untreated Addison's disease , a disease process suddenly affecting adrenal function (such as bleeding from the adrenal glands in Waterhouse-Friderichsen syndrome ), suddenly stopping intake of glucocorticoids or an intercurrent problem (e.g. infection, trauma, in fact any form of physical or mental stress) in someone known to have Addison's disease, congenital adrenal hyperplasia (CAH), or other form of primary adrenal insufficiency. ... Both renal factors are secondary to volume depletion and, in fact, improve rapidly during rehydration with saline infusion. [4] Hypoglycemia (reduced level of blood glucose) Hyponatremia (low sodium level in the blood) Hypotension (low blood pressure) Hypothyroid (low T4 level) Severe vomiting and diarrhea , resulting in dehydration Syncope (transient loss of consciousness) and/or orthostatic hypotension (drop in blood pressure on standing, leading to loss of balance) Causes [ edit ] Adrenal crisis is caused by a deficiency of cortisol resulting from Addison's disease , congenital adrenal hyperplasia (CAH), corticosteroid biosynthetic enzyme defects or pituitary disorders (such as Sheehan's syndrome , pituitary adenoma , hypopituitarism (inactive or underactive pituitary) causing failure to activate the adrenal glands. [ citation needed ] Diagnosis [ edit ] Various investigations aid the diagnosis: [ citation needed ] ACTH (cosyntropin) stimulation test Cortisol level (to assess the level of glucocorticoids) Fasting blood sugar Serum potassium (to assess the level of mineralocorticoids) Serum sodium Prevention [ edit ] Adrenal crisis is triggered by physiological stress (such as trauma ) or severe psychological stress. ... External links [ edit ] Acute adrenal crisis on PubmedHealth Adrenal Crisis on Patient.info Classification D ICD - 10 : E27.2 External resources MedlinePlus : 000357 eMedicine : article/116716 article/765753 v t e Adrenal gland disorder Hyperfunction Aldosterone Hyperaldosteronism Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH Pseudohypoaldosteronism Cortisol Cushing's syndrome Pseudo-Cushing's syndrome Steroid-induced osteoporosis Sex hormones 21α CAH 11β CAH Hypofunction Aldosterone Hypoaldosteronism 21α CAH 11β CAH Cortisol CAH Lipoid 3β 11β 17α 21α Sex hormones 17α CAH Inborn errors of steroid metabolism Adrenal insufficiency Adrenal crisis Adrenalitis Xanthogranulomatous Addison's disease Waterhouse–Friderichsen syndrome v t e Shock Distributive Septic shock Neurogenic shock Anaphylactic shock Toxic shock syndrome Obstructive Abdominal compartment syndrome Low volume Hemorrhage Hypovolemia Osmotic shock Other Spinal shock Cryptic shock Vasodilatory shock
Adrenal destruction may occur in the absence of CPAI history and may be due to bilateral massive adrenal hemorrhage (BMAH) as seen in Waterhouse-Friderichsen syndrome. AAI may also result from corticotroph insufficiency, either isolated or more often resulting from complete anterior pituitary insufficiency. ... Peritonitis is often a differential diagnosis as well as other causes of adrenal destruction such as bilateral adrenalectomy, Waterhouse-Friderichsen syndrome, autoimmune adrenalitis, infectious adrenalitis.
For a general phenotypic description and a discussion of genetic heterogeneity of ectodermal dysplasia-syndactyly syndrome, see EDSS1 (613573). Clinical Features Tariq et al. (2009) described a novel ectodermal dysplasia-syndactyly syndrome, which they called ectodermal dysplasia-cutaneous syndactyly (EDCS), in 4 sibs of first-cousin Pakistani parents. ... Tariq et al. (2009) suggested the disorder was distinct from other reported ectodermal dysplasia-syndactyly syndromes by such features as thin body hairs, hypoplastic flat and yellowish fingernails and toenails, plantar keratoderma, hyperhidrosis, cardiomegaly, follicular hyperkeratosis, hard scaly skin with mild epidermolytic hyperkeratosis, pointed nose, thin upper lips, and large prominent ear pinnae.
As indicated below, the fragile site is associated with the CBL2 gene (165360) and is probably related to a specific deletion clinical syndrome. Folate-sensitive fragile sites are inherited chromosomal aberrations that appear as poorly condensed regions of metaphase chromosomes and are susceptible to breakage under certain experimental conditions. ... Two folate-sensitive fragile sites, characterized at the molecular level, had been associated with a clinical phenotype: FRAXA (see 309550) with the fragile X syndrome (300624), the second most common cause of mental retardation after Down syndrome, and FRAXE (309548), which is associated with a rare form of mild mental retardation. ... In most cases, the clinical presentation of fragile X syndrome is caused by a reduction in transcription of FMR1 as a result of this FRAXA-induced methylation. ... Jones et al. (1995) reported the localization of FRA11B to the CBL2 p(CCG)n repeat and demonstrated an association with the chromosome deletion characteristic of Jacobsen (11q-minus) syndrome (147791). Given the very low frequency of both FRA11B and Jacobsen syndrome, an association between them is very unlikely to be due to chance.
A number sign (#) is used with this entry because of evidence that Raymond-type X-linked syndromic mental retardation (MRXSR) is caused by mutation in the ZDHHC9 gene (300646) on chromosome Xq26. ... None of the affected individuals met the Ghent criteria for Marfan syndrome (154700). Pectus carinatum, pes planus, arachnodactyly, strabismus, prominent ears, and fifth finger camptodactyly were reported. ... In the family without marfanoid habitus, clinical diagnosis of FG syndrome was considered (see 305450) in one affected member because of the presence of hypotonia, a cowlick, and a high forehead.
Differential diagnosis The differential diagnosis may include other forms of CL (ARC1 and ARCL2, and X-linked CL) and related syndromes (gerodermia osteodysplastica, wrinkly skin syndrome and De Barsy syndrome), together with the Ehlers-Danlos syndromes, Cantu syndrome and Costello syndrome (see these terms).
A number sign (#) is used with this entry because of evidence that autosomal dominant cutis laxa-3 (ADCL3) is caused by heterozygous mutation in the ALDH18A1 gene (138250) on chromosome 10q24. Homozygous mutation in ALDH18A1 can cause autosomal recessive cutis laxa type IIIA (ARCL3A; 219150). Description Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700).
The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002). ... Loose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; 231070) and Costello syndrome (218040). For a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). ... (Another of the families reported by Schreiber and Tilley (1961), viz., no. 1, had the acromegaloid syndrome (102100).) Damkier et al. (1991) described cutis laxa in 6 members of 5 generations. ... The son had Klippel-Trenaunay-Weber syndrome (149000). An acquired form of cutis laxa, called generalized elastolysis, has been described in at least 17 cases (Harris et al., 1978). ... Immediately after birth, he developed respiratory distress syndrome characterized by repeated pneumothoraces and emphysema.
A number sign (#) is used with this entry because autosomal dominant cutis laxa-2 (ADCL2) is caused by heterozygous mutation in the fibulin-5 gene (FBLN5; 604580) on chromosome 14q32. Homozygous mutation in FBLN5 can cause an autosomal recessive form of cutis laxa (ARCL1A; 219100). Description Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700). Clinical Features Markova et al. (2003) described an African American female patient with autosomal dominant cutis laxa.
A number sign (#) is used with this entry because hyperproinsulinemia is caused by heterozygous mutation in the INS gene (176730) on chromosome 11p15. Description Insulin (INS; 176730) is produced posttranslationally from its precursor molecule, proinsulin, by site-directed proteolysis in beta-cell granules. Conversion involves cleavage at pairs of basic residues that link both the insulin A and B chains to C-peptide. Human proinsulin conversion has a preferred sequential route, such that cleavage at the B-chain/C-peptide junction occurs first, producing des-31,32 split proinsulin as the major conversion intermediate. Under normal circumstances, proinsulin conversion is largely completed before secretion, and low plasma levels of intact proinsulin and conversion intermediates are found.
A number sign (#) is used with this entry because Mulchandani-Bhoj-Conlin syndrome (MBCS) is an imprinting disorder involving genes within the imprinted region of chromosome 20. Description The Mulchandani-Bhoj-Conlin syndrome is characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty (Mulchandani et al., 2016). ... Two patients had initially been diagnosed with Silver-Russell syndrome (180860). Maternal age at the patients' birth ranged from 37 to 43 years.
Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.
Craniosynostosis may occur as a single abnormality (isolated craniosynostosis) or it may occur as one feature of one of many syndromes . Most cases of isolated craniosynostosis occur randomly (sporadically) and have no known cause. ... When craniosynostosis is a feature of a larger syndrome (syndromic craniosynostosis), the cause and inheritance pattern depend on the syndrome the person has. However, most syndromic causes of craniosynostosis are autosomal dominant. ... The long-term outlook depends on how many sutures are involved and whether the child has a larger syndrome or other health problems. Children who have surgery and are otherwise healthy generally do not experience long-term complications, especially when only one suture is involved.
In rare cases, craniosynostosis is caused by certain genetic syndromes (syndromic craniosynostosis). ... Multiple suture craniosynostosis is usually linked to genetic syndromes and is called syndromic craniosynostosis. ... Its cause is unknown, although it's thought to be a combination of genes and environmental factors. Syndromic craniosynostosis is caused by certain genetic syndromes, such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome, which can affect a baby's skull development. ... If your health care provider suspects an underlying genetic syndrome, genetic testing may help identify the syndrome. ... Do you have a family history of craniosynostosis or genetic conditions such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome?
Crouzon syndrome : A craniofacial birth abnormalities with bilateral coronal suture fusion. ... A third classification involves the presence or absence of an identified craniofacial syndrome. Craniosynostosis where no extracranial deformations are present, is called non-syndromic or 'isolated' craniosynostosis. [6] When there are extracranial deformations present, for instance involving the limbs, heart, central nervous system or the respiratory tract, [12] you may speak of a syndromic form of craniosynostosis. ... "Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile". ... "Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations". ... "Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors".
A number sign (#) is used with this entry because of evidence that the XFE progeroid syndrome (XFEPS) is caused by homozygous or compound heterozygous mutation in the ERCC4 gene (133520) on chromosome 16p13. ... The combination of impaired UV-induced DNA repair, photosensitivity, and neurologic symptoms were reminiscent of de Sanctis-Cacchione syndrome (278800). However, the hypertension, anemia, renal and liver abnormalities, and pronounced progeroid appearance observed in this patient had not been reported in de Sanctis-Cacchione syndrome, implying that this patient represented a novel syndrome. The patient died at 16 years of age from severe pneumonia complicated by acute respiratory distress syndrome and died of multisystem organ failure. ... Niedernhofer et al. (2006) noted a striking correlation between the phenotype of Ercc1-null mice (see 126380) and that of human XFE progeroid syndrome. They observed that changes in these mice correlated with those seen in aged mice and developed a model connecting DNA damage, the growth hormone axis, and aging. ... By screening the ERCC4 gene in an additional 24 genetically undiagnosed atypical Werner syndrome patients, Mori et al. (2018) identified a patient (CALIF1010) who was compound heterozygous for a missense mutation (R799W; 133520.0011) and a frameshift mutation (133520.0012).
"Lung transplantation for Williams-Campbell syndrome". Chest . 113 (2): 534–7. doi : 10.1378/chest.113.2.534 . ... "Deadly Complications of the Williams-Campbell Syndrome With Initial Presentation as Septic Shock in an Adult". ... "Lung transplantation for Williams-Campbell syndrome with a probable familial association" . ... "Familial congenital bronchiectasis: Williams-Campbell syndrome". Pediatric Pulmonology . 16 (4): 263–7. doi : 10.1002/ppul.1950160410 . ... "Respiratory failure of Williams-Campbell syndrome is effectively treated by noninvasive positive pressure ventilation".
A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.
Risk factors Relapsing polychondritis , Chronic obstructive pulmonary disease , Asthma , Gastroesophageal reflux disease (GERD) , Heritable connective tissue disorders (Particularly Ehlers-Danlos Syndrome ), Prolonged tracheal intubation , Long-term use of inhaled corticosteroids Diagnostic method Bronchoscopy , Dynamic Expiratory Computed Tomography Differential diagnosis Asthma , Chronic Obstructive Pulmonary Disease (COPD) , Bronchiectasis , Tracheal stenosis , Tracheal tumors , Laryngomalacia Prevention Treatment of inflammatory disorders of the airway, avoiding hard impacts Treatment Continuous Positive Airway Pressure (CPAP) , Airway Stenting , Aortopexy , Tracheopexy, Tracheobronchoplasty Prognosis Variable: Disease can range from asymptomatic to life-threatening Tracheobronchomalacia or TBM is a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse. [1] This condition can also affect the bronchi. ... TBM can be caused by damage to the support cartilage or membranous wall of the trachea, this can be the result of physical trauma (such as from prolonged Tracheal intubation ) or pathological changes caused by inflammatory diseases like Relapsing polychondritis . [ citation needed ] In patients with TBM in one study, the number of longitudinal elastic fibers in the pars of membranacea was reduced throughout the whole trachea. [5] People with heritable connective tissue disorders like Ehlers–Danlos syndrome seem to have at an increased risk of both congenital and acquired TBM. [ citation needed ] There have been studies linking long-term use of inhaled Corticosteroids to Tracheobronchomalacia.
Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi ) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. One typically develops during infancy or early childhood (primary TBM). The other is an acquired form usually seen in adults (acquired or secondary TBM). Some people with TBM may initially have no signs or symptoms. However, the condition typically is progressive (worsening over time) and most people will eventually develop shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and/or wheezing or stridor with breathing.
In 4 of 5 brothers, Agosti et al. (1974) observed chronic respiratory distress in early infancy and showed in one that it was due to bronchial flaccidity. Because of the bronchomalacia, first and second generation bronchi almost collapsed during expiration. Air trapping and respiratory distress simulated bronchial asthma. The parents were not known to be related but had the same surname and originated from the same small village in Italy. Wayne and Taussig (1976) described 2 sibs with respiratory symptoms dating from birth and subsequently demonstrated bronchiectasis. They postulated absence of bronchial cartilage.
"Bickerstaff's syndrome" redirects here. For Bickerstaff's migraine, see basilar migraine . ... These are also diagnostic features of Miller Fisher syndrome , and so Bickerstaff's is only diagnosed if other features are present which exclude Miller Fisher syndrome. ... There is certainly overlap between Guillain–Barré syndrome , Miller Fisher syndrome and Bickerstaff brainstem encephalitis, as well as other conditions associated with anti-ganglioside antibodies such as chronic ophthalmoplegia with anti-GQ1b antibody. and the pharyngo-cervico-brachial variant of GBS. [ citation needed ] Diagnosis [ edit ] Anti-GQ1b antibodies have been found in two-thirds of patients with this condition. [6] This antibody is also found in almost all cases of Miller Fisher syndrome. ... "Brain-stem encephalitis: further observations on a grave syndrome with benign prognosis" . Br Med J . 1 (5032): 1384–7. doi : 10.1136/bmj.1.5032.1384 . ... "Bickerstaff's brainstem encephalitis: clinical features of 62 cases and a subgroup associated with Guillain–Barré syndrome" . Brain . OUP. 126 (10): 2279–90. doi : 10.1093/brain/awg233 .
Differential diagnosis BBE shows clinical overlap with Miller-Fisher syndrome (MFS; see this term), a cranial nerve variant of Guillain-Barré syndrome (GBS; see this term), as well as with the axonal forms of GBS (acute motor axonal neuropathy and acute motor-sensory axonal neuropathy; see these terms) in patients with limb weakness, leading several authors to suggest that BBE, MFS and GBS represent variable manifestations of the same clinical spectrum.
"Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort" . ... "American College of Rheumatology clinical guidance for pediatric patients with multisystem inflammatory syndrome in children (MIS-C) associated with SARS-CoV-2 and hyperinflammation in COVID-19. ... (September 2020). "Multisystem inflammatory syndrome in children: a systematic review" . ... S2CID 221494176 . ^ a b c d e f g h i j k l m n o p q "Guidance - Paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS)" . ... Archived from the original on 16 June 2020. ^ a b c d e f g h i j k l m n o p q "Multisystem inflammatory syndrome in children (MIS-C) interim guidance" . services.aap.org .
Available at BehaveNet.com Retrieved on August 10, 2009. ^ Swain JE, Scahill L, Lombroso PJ, King RA, Leckman JF. "Tourette syndrome and tic disorders: a decade of progress". ... "European clinical guidelines for Tourette syndrome and other tic disorders. Part II: pharmacological treatment". ... F1000Research 2016, 5:696 doi : 10.12688/f1000research.8428.1 ^ Tourette Syndrome Fact Sheet. National Institutes of Health (NIH). Retrieved on 2005-03-23. ^ Tourette Syndrome Fact Sheet. National Institutes of Health (NIH). Retrieved on 2005-03-23. ^ Swerdlow NR. "Tourette syndrome: current controversies and the battlefield landscape".