Patients with King syndrome present in childhood, although the disease is seen from birth. The first cases reported were in males, who are more frequently affected than females. Currently, diagnostic criteria for the disease are vague. King syndrome (KS) was thought to be sporadic, but a genetic component has been suggested, with a possible autosomal dominant inheritance pattern [1]. KS shares many features with Noonan syndrome, however, the relationship between the two diseases has yet to be established [2] [3]. Despite similarities in clinical presentation, symptoms classically associated with Noonan syndrome, including coagulopathy, lymphatic swelling of the extremities, and wide spaced eyes, are not seen in patients with KS. It is unclear whether or not KS is a unique disorder, but it may be the common manifestation of several congenital myopathies [4] [5].

Relatives of the affected individuals have been found to have skeletal abnormalities or raised creatinine phosphokinase (CPK) levels [2]. Many with KS are diagnosed with malignant hyperthermia as the first sign of KS, which then prompts further investigation, although the malignant hyperthermia is sometimes fatal.

KS is a progressive condition and is characterized by worsening myopathy which may first appear as developmental delay in the motor domain, kyphosis, scoliosis, winged scapula and weak tendon reflexes [4]. There may be other skeletal deformities in the lumbar and thoracic spine as well as the chest wall, such as pectus carinatum. In addition, KS patients often have a short stature.

Other features associated with KS include low-set ears, webbed neck, crowding and misalignment of teeth, drooping eyelids, undescended testes, down-slanting palpebral fissures and an underdeveloped lower jaw [6]. Cleft palate and high arched palate have been reported [2]. KS has not been linked to intellectual disability.

• Fever

  Anaesthetised patients may develop high fever and muscle rigidity with rhabdomyolysis, release of myoglobin, renal damage and acute renal failure. [medical-dictionary.thefreedictionary.com]

  Fever Pyrexia, Hyperthermia Elevated body temperature due to failed thermoregulation. [rarediseases.oscar.ncsu.edu]

  Some of these treatments include: Body cooling measures, such as cold IV fluids and ice packs, for hyperthermia (high fever). Oxygen through a face mask or a tube placed in your trachea. [my.clevelandclinic.org]

  Patients with osteogenesis imperfecta often develop fever during anesthesia. Myotonic patients will develop muscle rigidity with succinylcholine. [mhaus.org]

• Cryptorchidism

  […] abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism [ebi.ac.uk]

  We report a case of King's syndrome without the cryptorchidism and pectus carinatum associated with the syndrome. King's syndrome's possible link to Noonan's syndrome is discussed herein, and the diagnosis and management of MH are briefly reviewed. [jamanetwork.com]

  In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and a characteristic facial appearance. [ncbi.nlm.nih.gov]

  Considering the severity and the high rate of lethality of a MH reaction, as children with KDS are likely to undergo surgery with general anes- thesia for cryptorchidism and skeletal deformities, a preoperative diagnosis should be recognized. [idocslide.com]

Apart from the assessment of clinical features, there are no specific diagnostic tests for King syndrome. Despite the known characteristic features, it is still difficult to correctly identify KS. Patients in whom KS is suspected may be further investigated before exposure to anesthetic agents occurs. The available exams include:

• Muscle biopsy: Microscopic examination of muscle may reveal a range of abnormalities, including a change in the size of muscle fibers, a large number of small-sized type 1 fibers and muscle atrophy [3].
• Tests for malignant hyperthermia (MH) susceptibility: These include the European Malignant Hyperthermia Group (EMHG) and the North American Malignant Hyperthermia Group (NAMHG) protocols. These are routinely carried out and both have high specificity for MH [7] [8] [9].
• Creatinine phosphokinase: Elevated levels may be found in patients as well as their relatives [10].

King-Denborough Syndrome (KDS): Symptoms, Diagnosis, Treatment. Disabled World. [disabled-world.com]

Pedigree: Autosomal dominant Autosomal recessive Treatment Treatment Options: The best treatment is prevention by using alternate anesthetic agents if the risk is recognized preoperatively. [disorders.eyes.arizona.edu]

Management and Treatment How is malignant hyperthermia treated? The main treatment for malignant hyperthermia is a drug called dantrolene (Dantrium®). Anesthesiologists administer this drug immediately if they suspect malignant hyperthermia. [my.clevelandclinic.org]

More needs to be done to ensure all individuals with Down syndrome who have dementia are considered for treatment. [kingshealthpartners.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Hyperthermia Association of the United States 11 East State St PO Box 1069 Sherburne, NY 13460 Toll-free: (800) 644-9737 or (888) 274-7899 Phone: (607) 674-7901 Email: [email protected] Web: http://patients.mhaus.org/ Last updated on 05-01-20 What is the prognosis [rareguru.com]

[…] associated with a prediposition to malignant hyperthermia suggests an autosomal dominant pattern of inheritance with variable expression (the altered gene is expressed in different ways in different people).[1][4] Last updated: 10/2/2013 What is the prognosis [rarediseases.info.nih.gov]

Suspected based on symptoms, confirmed with genetic testing [4] [2] Differential diagnosis Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1 [2] [3] Treatment Based on the symptoms [3] Medication Growth hormone [3] Prognosis [en.wikipedia.org]

LipoScience, Division of Basic Research, Raleigh, NC 27616, USA Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome Menezes AV, Lewis TL, Buncic JR. [aicardisyndromefoundation.org]

Etiology: This condition could be caused by minor cochlear defect associated with psycological causes. These patients also have a high family prevalance of deafness. [drtbalu.co.in]

Pathophysiology The etiology of King-Denborough Syndrome is unknown. Multiple different pathophysiologies are possible, depending on the particular myopathy. The physical signs may reflect fetal hypokinesia. [accessanesthesiology.mhmedical.com]

It may be linked to a genetic etiology. Patients with King syndrome present in childhood, although the disease is seen from birth. The first cases reported were in males, who are more frequently affected than females. [symptoma.com]

King-Denborough Syndrome has an unknown etiology. There might be elevated serum creatine kinase (CK) levels in family members of people with KDS, which may increase the risk of malignant hyperthermia in those family members. [disabled-world.com]

Epidemiology Frequency United States Staphylococcal scalded skin syndrome (SSSS) is most common in children and neonates. [emedicine.medscape.com]

Discussion Because BCS remains an uncommon disorder, data regarding its epidemiology are limited. [journals.sagepub.com]

Compared with hospital studies, epidemiological studies, which assesses a whole population for otitis media and then evaluate outcomes, have found much weaker evidence for long-term impacts of otitis media on language outcomes. [41] Somatic [ edit ] It [en.wikipedia.org]

Pathophysiology The etiology of King-Denborough Syndrome is unknown. Multiple different pathophysiologies are possible, depending on the particular myopathy. The physical signs may reflect fetal hypokinesia. [accessanesthesiology.mhmedical.com]

The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. [books.google.com]

This article reviews current knowledge about the pathophysiology, clinical manifestations, diagnosis, and management of this disorder. The full text of this article hosted at iucr.org is unavailable due to technical difficulties. [onlinelibrary.wiley.com]

A mild form of the illness involving desquamation of just the skin folds following impetigo has been described. [1] Pathophysiology Staphylococcal scalded skin syndrome (SSSS) is caused by an exfoliative toxin produced by roughly 5% of Staphylococcus [emedicine.medscape.com]

The delineation of King syndrome provides further evidence for the heterogeneity of malignant hyperthermia and increases awareness of this disorder; its recognition in a female may lead to preoperative diagnosis and prevention of malignant hyperthermia [ncbi.nlm.nih.gov]

Prevention Can malignant hyperthermia be prevented? Malignant hyperthermia is difficult to prevent unless you know you have the genetic mutation that causes it or you have a family history of the condition and have told your anesthesiologist. [my.clevelandclinic.org]

The severer forms of masseter spasm would result in masseter tetany or “jaws of steel” preventing any mouth opening. [journals.aiac.org.au]

Pedigree: Autosomal dominant Autosomal recessive Treatment Treatment Options: The best treatment is prevention by using alternate anesthetic agents if the risk is recognized preoperatively. [disorders.eyes.arizona.edu]

1. Johns Hopkins University. Malignant hyperthermia, susceptibility to, 1; MHS1. Online Mendelian Inheritance in Man (OMIM). http://omim.org/entry/145600. Published July 3, 2013. Accessed May 24, 2017.
2. Graham GE, Silver K, Arlet V, Der Kaloustian VM. King syndrome: further clinical variability and review of the literature. Am J Med Genet. 1998;78(3):254-259.
3. Reed UC, Resende MBD, Ferreira LG, et al. King-Denborough Syndrome: report of two Brazilian cases. Arq Neuropsiquiatr. 2002;60(3B):739-741.
4. Chitayat D, Hodgkinson KA, Ginsburg O, Dimmick J, Watters GV. King syndrome: a genetically heterogenous phenotype due to congenital myopathies. Am J Med Genet. 1992;43(6):954-956.
5. Habib AS, Millar S, Deballi P, Muir HA. Anesthetic management of a ventilator-dependent parturient with the King-Denborough syndrome. Can J Anesth. 2003;50(6):589-592.
6. Maharaj R, Osborne IJS. The King-Denborough syndrome in the paediatric patient. SAJAA. 2007;13(2):27-30.
7. The European Malignant Hyperpyrexia Group. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth. 1984;56(11):1267–1269.
8. Larach MG. Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group. Anesth Analg. 1989;69(4):511–515.
9. Islander G, Twetman ER. Comparison between the European and North American protocols for diagnosis of malignant hyperthermia susceptibility in humans. Anesth Analg. 1999;88(5):1155-1160.
10. Isaacs H, Barlow MB. The genetic background to malignant hyperpyrexia revealed by serum creatinine phosphokinase estimations in asymptomatic relatives. Br J Anaesth. 1970;42(12):1077-1084.