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Mucopolysaccharidosis 4

Morquio Syndrome


Presentation

  • Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features. Unlike other mucopolysaccharidoses (MPS) intelligence is often preserved.[genedx.com]
  • Congenital SEDs can usually be differentiated from MPS IVA because symptoms are present at birth.[omicsonline.org]
  • We have reported these cases of MPS as it is a rare disease and also Morquio is not the common presentation among the MPS.[jcdr.net]
  • The role and influence of ERT with elosulfase alfa on the presented cardiovascular findings may be neglectable.[journals.plos.org]
  • Both twins presented with dysmorphic features, spondyloepiphyseal abnormalities, short stature, and cardiac valvular involvement. One of the twins died at the age of 4-years due to chest infection.[cags.org.ae]
Short Stature
  • Affects Freak the Mighty Kevin ('Freak') experiences many of these symptoms, especially the short stature and joint problems.[study.com]
  • Abnormal curvature of the spine Cloudy cornea Heart murmur Hernia in the groin Enlarged liver Loss of nerve function below the neck Short stature (especially short trunk) Urine tests are usually done first.[mountsinai.org]
  • The problems tied to Morquio syndrome lead to symptoms such as curved spine (scoliosis), joints that move more than they should (hypermobility), neck that moves more than it should (instability), a large head, short stature, wide teeth, heart and vision[nicklauschildrens.org]
  • Turnaround Time 2 weeks CPT Code(s) 82657 Cost 200.00 Enzymes N-acetyl-galactosamine-6-sulfatase Beta-galactosidase Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding,[ggc.org]
  • Short stature, genu valgum/varum. Joint stiffness, restricted mobility. Phalangeal dysostosis which present as claw hand deformity. Eyes : Corneal clouding which can cause significant visual impairment.[genetics4medics.com]
Falling
  • Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features. Unlike other mucopolysaccharidoses (MPS) intelligence is often preserved.[genedx.com]
  • A waddling gait with a tendency to fall are characteristically seen in these patients.[themedicalbiochemistrypage.org]
  • Morquio had damaged her vertebra, and a simple fall could have left her paralyzed. “Bella’s condition was neurologically precarious and life threatening,” recalls Karlin.[thriving.childrenshospital.org]
  • This is perhaps to be expected, because children and adolescents tend to be more susceptible to falls and accidents than adults.[ncbi.nlm.nih.gov]
  • Although there is currently limited data on younger patients, available data from natural history studies show that patients gradually fall off the anticipated growth trajectory by 2 y of age ( 4 , 6 , 7 ).[nature.com]
Lymphadenopathy
  • Clinical features: severe dwarfism ( joint laxity corneal opacification/clouding lymphadenopathy progressive deafness spinal kyphoscoliosis prominent mandible and lower face short neck It results from an excess of keratan sulphate from a deficit in its[radiopaedia.org]
  • […] trigeminal neuralgia Preparation Tablet: 200mg, 400mg syrup: 100mg/ml Dosage Initially 10mg/day orally, increasing slowly to 20-30mg/kg/day in divided doses 40. 40 Adverse effect drowsiness, diplopia, vertigo, araxia, blurred vision, GI upset, skin reaction, lymphadenopathy[slideshare.net]
Barrel Chest
  • Clinical examination revealed a short stature, microcephaly, short neck, cervical scoliosis, slanting forehead, barrel chest deformity, dorsolumbar kyphosis, increased anteroposterior diameter of chest, pectus excarinatum, waddling gait, pot belly, valgus[apicareonline.com]
Hepatomegaly
  • Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin enamel with increased risk of caries formation.[genedx.com]
  • Extra-skeletal manifestations include respiratory problems, hepatomegaly, valvulopathies, hearing loss and corneal clouding. Intelligence is normal.[orpha.net]
  • Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. Intelligence is typically not affected.[ggc.org]
  • Hepatomegaly and peripheral corneal deposits resembling arcus senilis were present. Peripheral leukocytes contained basophilic granulation.[annals.org]
  • Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia[ldnz.org.nz]
Widely Spaced Teeth
  • Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin enamel with increased risk of caries formation.[genedx.com]
  • Turnaround Time 2 weeks CPT Code(s) 82657 Cost 200.00 Enzymes N-acetyl-galactosamine-6-sulfatase Beta-galactosidase Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding,[ggc.org]
  • spaced teeth Exams and Tests The health care provider will perform a physical examination.[mountsinai.org]
  • Knock-knees (knees that point inward and touch each other as the person walks) Large head Widely-spaced teeth Coarse facial features which may include prominent scalp veins, flat-bridged nose and bulging forehead Possible heart and vision problems Diagnostic[chop.edu]
  • spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 Showing of 38 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
Dental Caries
  • CASE REPORT A male patient, 17 years, weighing 18 kg, presented to the pedodontics department with dental caries for full mouth rehabilitation.[apicareonline.com]
  • Mouth and Throat Sore on lips Color/ cracks/ ulceration Oral cavity Mucus membrane color Gum-bleeding/ ulceration/ swelling Missing teeth Dental caries Tongue Odor from mouth Difficulty in swallowing Tonsils Absent Pink color, no cracks and ulceration[slideshare.net]
Poor Oral Hygiene
  • Figure 1: Side view of the child Figure 2: Front view of the child Oral cavity examination revealed bulky soft tissue, large tongue, caries teeth, poor oral hygiene, large uvula and restricted neck anteroposterior movements, Mallampati grade– II.[apicareonline.com]
Hearing Impairment
  • impairment Unlike some other types of MPS, Morquio syndrome doesn't appear to cause intellectual disabilities.[everydayhealth.com]
  • Affected people may also experience involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly, and spinal cord compression. 0000670 Cervical myelopathy[rarediseases.info.nih.gov]
  • Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info]
  • Morquio A patients also commonly present with nonskeletal manifestations such as respiratory dysfunction, cardiovascular abnormalities, cervical/thoracolumbar cord compression, vision and hearing impairment, dental abnormalities, and hepatosplenomegaly[nature.com]
  • Neurological signs and symptoms that may be evident in patients having either the neuronopathic or non-neuronopathic phenotypes include seizures, optic nerve compression, hearing impairment, sleep apnoea, hydrocephalus, carpal tunnel syndrome, spinal[touchneurology.com]
Skeletal Dysplasia
  • Locations & Doctors Nemours is world-renowned for skeletal dysplasia diagnosis and treatment. We strive to maximize children’s mobility, correct deformity, and prevent future complications.[nemours.org]
  • The major clinical symptoms associated with the Morquio syndromes are short-trunk dwarfism, spondyloepiphyseal (skeletal) dysplasia and fine corneal implants.[themedicalbiochemistrypage.org]
  • Skeletal dysplasias. In: CAFFEY’S Pediatric Diagnostic Imaging, 11th ed. Elsevier, Philadelphia,2008; 2649-53. 10. Renton P, Green R. Congenital skeletal anomalies, skeletal dysplasias and chromosomal disorders.[jcdr.net]
  • Mucopolysaccharidosis type IVA or Morquio syndrome A is a lysosomal storage disorder characterized by skeletal dysplasia due to excessive storage of keratan sulfate.[genedx.com]
  • KS and C6S accumulation typically results in short stature and skeletal dysplasia (Wraith 1995). Bone deformity is the most common initial manifestation [ 10 , 11 ] of skeletal dysplasia.[omicsonline.org]
Genu Valgum
  • They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities. Hepatomegaly was observed in two patients, bilateral deafness in one, and spastic paraplegia in two patients.[cags.org.ae]
  • valgum Thoracic manifestations anterior sternal bowing, increased AP chest diameter, wide ribs Echocardiography late onset aortic regurgitation Treatment and Prognosis Life expectancy ranges between 30-40 years.[radiopaedia.org]
  • There is joint laxity and knock knees (genu valgum) and hip deformity (dysplasia). The intelligence is normal. (In other words, there is no tendency to mental retardation.)[medicinenet.com]
  • Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees or genu valgum), flat feet, abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis[centogene.com]
  • Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum , genu valgum , long bone deformities) become more pronounced as the child grows. Joint hyperlaxity is accompanied by frequent luxations (hips, knees).[orpha.net]
Platyspondyly
  • Individuals with SMDK have platyspondyly, overfaced vertebral pedicles, irregular proximal femoral growth plates, and carpal ossification delay [ 21 ].[omicsonline.org]
  • Plain radiograph / CT Axial manifestations platyspondyly hypoplasia of odontoid peg atlantoaxial subluxation os odontoideum anterior central vertebral body beaking round vertebral bodies coxa valga goblet shaped flared iliac wings, increased acetabular[radiopaedia.org]
  • There are multiple abnormalities of the spine (platyspondyly, odontoid hypoplasia, cervical subluxation and cervical myelopathy). The chest is pigeon-shaped (pectus carinatum).[medicinenet.com]
  • Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum , genu valgum , long bone deformities) become more pronounced as the child grows. Joint hyperlaxity is accompanied by frequent luxations (hips, knees).[orpha.net]
Hyperlaxity
  • Joint hyperlaxity is accompanied by frequent luxations (hips, knees).[orpha.net]
  • […] by abnormal skeletal development that includes growth retardation, a prominent lower face, an abnormally short neck, knock knees or genu valgum, flat feet, kyphoscoliosis, abnormal development of the growing ends of the long bones (epiphyses), joint hyperlaxity[cags.org.ae]
  • Bert JM: La dystropie osseuse de Morquio dens le carde des hyperlaxitis familiales. Rev. Neurol. (Paris) 63:845-856: 1935. 24. Reilly W.A.: The granules in the leucocytes in gargoylism. Am.. J. Dis. Child 62 : 489 - 1941 . 25.[ijo.in]
  • Short stature Joint stiffness Hyperlaxity Carpal tunnel syndrome Hip dysplasia Severe skeletal deformities 37. 37 Management Currently there is no cure for these disorders.[slideshare.net]
Long Bone Deformity
  • Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum , genu valgum , long bone deformities) become more pronounced as the child grows. Joint hyperlaxity is accompanied by frequent luxations (hips, knees).[orpha.net]
Corneal Opacity
  • To give a synopsis of the disease: There is severe growth retardation (adult height 82 to 115 cm); the skull is unusually thick and dense; there are corneal opacities (clouding of the eyes) and hearing loss. The liver is slightly enlarged.[medicinenet.com]
  • They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities. Hepatomegaly was observed in two patients, bilateral deafness in one, and spastic paraplegia in two patients.[cags.org.ae]
  • Specific features include: Corneal opacity not a usual feature. Some flecks may be seen on slit lamp examination. Chronic diarrhoea is a common problem. Distinctive skin lesion (pebbling).[genetics4medics.com]
  • The disorder results in short stature, spinal deformity, odontoid hypoplasia, macroglossia, corneal opacities, short neck, pectus carinatum, kyphoscoliosis, dwarfism, cardiac abnormalities, hepatomegaly, acoustic deafness, and dental abnormalities. 2[apicareonline.com]
  • (iii) Corneal opacities and dental abnormalities being a common feature with normal fundii; (iv) Normal intelligence, dwarfism, deafness, valvular disease and hypermobility of the joints are all cor roborative of Morquio syndrome.[ijo.in]
Coarse Face
  • This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.[genome.jp]
Clumsiness
  • […] entrapment of the median or ulnar nerves has been reported to affect 96 % of children who have Hunter syndrome but may be underdiagnosed, for patients’ cognitive impairment often prevents them from accurately describing their symptoms. 17,25 Manual clumsiness[touchneurology.com]

Treatment

  • It can be hard to get treatment for MPS because of the different criteria applied by Mexico’s various state health insurers.[ft.com]
  • Ms Antonio has been campaigning for three years in a bid to have treatment made more accessible.[abc.net.au]
  • There is no treatment for MPS IVB. Clinical Trial Clinical trials are research studies that determine whether treatments or devices are safe for humans.[mpssociety.org]
  • Some related diseases already have some experimental treatments such as gene therapy, enzyme replacement, and chaperone therapy.[morquiob.org]
  • […] and management and specific treatment of MPSIV.[lpamrs.memberclicks.net]

Prognosis

  • Prognosis Prognosis depends on the severity of the disease and on the quality of care, which can allow patients to survive beyond the age of 50. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • […] metacarpal flattened femoral epiphyses; risk of lateral subluxation and dislocation coxa valga genu valgum Thoracic manifestations anterior sternal bowing, increased AP chest diameter, wide ribs Echocardiography late onset aortic regurgitation Treatment and Prognosis[radiopaedia.org]
  • […] information about MPS IV: National MPS Society -- mpssociety.org National Organization for Rare Disorders -- rarediseases.org/rare-diseases/morquio-syndrome NIH Genetics Home Reference -- ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv Outlook (Prognosis[mountsinai.org]
  • (Outcomes/Resolutions) Mucopolysaccharidosis Type IV (Morquio Syndrome) is a progressive disorder that has a generally poor prognosis. However, the prognosis also depends upon the severity of the signs and symptoms.[dovemed.com]

Etiology

  • Etiology A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB.[orpha.net]
  • (Etiology) Mucopolysaccharidosis Type IV is caused by inheriting faulty genes that prevents the body from producing certain enzymes.[dovemed.com]
  • […] pediatric history of patient Describe process of growth and development of children from birth to adolescence Explain the neonatal assessment and different level of care and strategies Discuss common childhood disease/ problems related to various systems, etiology[slideshare.net]

Epidemiology

  • Summary Epidemiology Prevalence is approximately 1/250 000 for type IVA but incidence varies widely between countries. MPS IVB is even rarer.[orpha.net]
  • All studies were reported to be case series or epidemiological studies of 1 to 34 year duration. The diagnostic methods employed by the different reports were not described in detail.[ojrd.biomedcentral.com]
  • Morquio B Syndrome To date, no epidemiological studies on the incidence of Morquio B syndrome have been conducted. However, the incidence of Morquio B syndrome is much lower than that of Morquio A syndrome.[emedicine.medscape.com]
  • Epidemiology The estimated incidence of MPS I is 1 in every 100,000 live births [ 2 ]. The mode of inheritance is autosomal recessive [ 3 ]. Genotype-phenotype correlation is poor [ 1 ].[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Pract Res Clin Endocrinol Metab . 2015;29:219-35.[whatwouldyoususpect.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Mucopolysaccharidosis type III (MPS-III), also known as Sanfilippo syndrome, is an autosomal recessive condition that consists[mayomedicallaboratories.com]
  • Pathophysiology of the MPS disorders The MPSs are chronic and progressive syndromes that produce a spectrum of signs and symptoms in multiple organ systems. A good example of this is seen in individuals with MPS I.[rheumatology.oxfordjournals.org]
  • Pathophysiology Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by a deficiency of lysosomal enzyme(s).[emedicine.medscape.com]
  • […] history of patient Describe process of growth and development of children from birth to adolescence Explain the neonatal assessment and different level of care and strategies Discuss common childhood disease/ problems related to various systems, etiology, pathophysiology[slideshare.net]

Prevention

  • We strive to maximize children’s mobility, correct deformity, and prevent future complications.[nemours.org]
  • A spinal fusion may prevent permanent spinal cord injury in people whose neck bones are underdeveloped.[mountsinai.org]
  • Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings 1 Department of Pediatric and Preventive Dentistry, Meenakshi Ammal Dental College and Hospital, Meenakshi University, Maduravoyal, India 2 Consultant Geneticist and Dysmorphologist[jisppd.com]
  • It also preserves vision by preventing corneal clouding, lessens chest infections and breathing difficulties, improves sleep and makes pain levels more manageable. In short, it is life-changing.[theguardian.com]

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