A comparison of biochemical results and the clinical picture of our patients with cases in the literature is presented. [ncbi.nlm.nih.gov]

Affected cells show dense inclusions filled with storage material, and lysosomal enzymes are present at elevated levels in the plasma and body fluids of affected patients.4. [fis-uke.de]

[…] polydystrophy): conservative treatment of myofascial pain dysfunction syndrome with the sterling silver splint.}, author={G L Lapeer and G L Shanks}, journal={Oral surgery, oral medicine, and oral pathology}, year={1986}, volume={61 5}, pages={ 448-52 } } Presentation [semanticscholar.org]

Presents the contributions of 70% new authors, from all over the world, in a consistent format to make referencing global perspectives quick and easy. [books.google.com]

• Splenomegaly

  […] cholesterol 272.7 dystopic (hereditary) 272.7 glycolipid 272.7 hereditary, dystopic 272.7 Lipoid - see also condition histiocytosis 272.7 Lipoidosis (see also Lipidosis) 272.7 Mucolipidosis I, II, III 272.7 Niemann-Pick disease (lipid histiocytosis) (splenomegaly [icd9data.com]

  Clinical manifestations, such as ‘heart murmur’, ‘inguinal hernia’ and ‘hepatomegaly and/or splenomegaly’, were found in both ML II and III. [nature.com]

  Splenomegaly is minimal. Respiratory infections and otitis media are frequent. Ophthalmologic findings include corneal opacities on slit-lamp examination noted as diffuse stromal granularities. [emedicine.medscape.com]

• Short Stature

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  Stature is short and growth is much slower than normal. There is no mucopoly- sacchariduria and the serum does contain increased amounts of beta hexosaminidases. [passeidireto.com]

  Other musculoskeletal problems like dysostosis multiplex, short stature, osteopenia, osteoarthritis, spinal cord compression and carpal tunnel syndrome are common in MLIII. [orpha.net]

  Clinical features range from early developmental delay, coarse facial features, short stature, dysostosis multiplex, and hepatosplenomegaly to late onset cherry-red spot myoclonus syndrome. [mayomedicallaboratories.com]

• Dysostosis

  Osteoarthritis is rapidly progressive in all patients (due to dysostosis multiplex and osteopenia) and results in cartilage destruction and bone lesions. [orpha.net]

  Clinical features range from early developmental delay, coarse facial features, short stature, dysostosis multiplex, and hepatosplenomegaly to late onset cherry-red spot myoclonus syndrome. [mayomedicallaboratories.com]

  They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. [ismrd.org]

  Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. [genecards.org]

  Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. [ncbi.nlm.nih.gov]

• Fatigue

  […] features Coarse facial appearance 0000280 Corneal opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate Cleft roof of mouth 0000175 Fatigue [rarediseases.info.nih.gov]

  Symptoms of aortic insufficiency may include palpitations, fatigue, shortness of breath, and chest pain. Causes Pseudo-Hurler polydystrophy is inherited as an autosomal recessive trait. [rarediseases.org]

• Developmental Delay

  Early symptoms can include skeletal abnormalities, vision problems and developmental delays. [ninds.nih.gov]

  There is severe progressive developmental delay and death usually occurs in the first decade. Pseudo-Hurler polydystrophy is milder and presents later, and survival into adulthood is possible.3. [fis-uke.de]

  Clinical features range from early developmental delay, coarse facial features, short stature, dysostosis multiplex, and hepatosplenomegaly to late onset cherry-red spot myoclonus syndrome. [mayomedicallaboratories.com]

  Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure. [ncbi.nlm.nih.gov]

  Developmental delay is common. A number of our patients do not exhibit any significant neu- rologic deficit. Pseudo-Hurler Polydystrophy (Mucolipidosis) 77 References 1. Maroteaux P, Lamy M. La pseudo-polydystrophie de Hurler. [passeidireto.com]

• Inguinal Hernia

  There is a protuberant abdomen, umbilical and inguinal hernias, coronary artery thickening, angina pectoris, decreased joint mobility and frequent chest infections. [whonamedit.com]

  hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate Cleft roof of mouth 0000175 Fatigue Tired Tiredness [ more ] 0012378 Reduced bone mineral density Low solidness and mass of the bones 0004349 Percent [rarediseases.info.nih.gov]

  Other features of mucolipidosis II alpha/beta include a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," and [medlineplus.gov]

  Clinical manifestations, such as ‘heart murmur’, ‘inguinal hernia’ and ‘hepatomegaly and/or splenomegaly’, were found in both ML II and III. [nature.com]

  Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. [ncbi.nlm.nih.gov]

• Failure to Thrive

  Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV. [ninds.nih.gov]

  It has a rapidly progressive course of failure to thrive and developmental delay, leading to death by age 5-8 years, usually from cardiorespiratory complications. Birth weight and length are below the reference range. [emedicine.medscape.com]

• Diarrhea

  The Wolman disease phenotype is characterized by severe diarrhea and malnutrition in infancy. Nearly all patients with Wolman disease have adrenal-gland calcification. [emedicine.medscape.com]

• Heart Murmur

  Clinical manifestations, such as ‘heart murmur’, ‘inguinal hernia’ and ‘hepatomegaly and/or splenomegaly’, were found in both ML II and III. [nature.com]

• Hepatosplenomegaly

  […] features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons Caused by [icd9data.com]

  Clinical features range from early developmental delay, coarse facial features, short stature, dysostosis multiplex, and hepatosplenomegaly to late onset cherry-red spot myoclonus syndrome. [mayomedicallaboratories.com]

  […] anterior inferior vertebral body beaking heart involvement cardiac valve disease: early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly [radiopaedia.org]

  Chapter 147 Accesses Abstract In 1966, Maroteaux and Lamy first described four girls with pseudo-Hurler polydystrophy, a condition milder in severity than the Hurler syndrome and similar to the Scheie syndrome but without hepatosplenomegaly, cloudy cornea [link.springer.com]

• Hepatomegaly

  272.7 splenomegaly (cerebroside lipidosis) 272.7 Hepatomegaly (see also Hypertrophy, liver) 789.1 Gaucher's 272.7 Histiocytosis (acute) (chronic) (subacute) 277.89 lipid, lipoid (essential) 272.7 Hyperlipidosis 272.7 hereditary 272.7 Lipidosis 272.7 [icd9data.com]

  Pompe disease (Glycogen storage disease type II) Early infancy Late onset (childhood-adult) GAA Alpha-glucosidase 1:40,000 Phenotype: infantile onset is characterized by prominent cardiomegaly, hepatomegaly, hypotonia, and weakness. [mayomedicallaboratories.com]

  Clinical manifestations, such as ‘heart murmur’, ‘inguinal hernia’ and ‘hepatomegaly and/or splenomegaly’, were found in both ML II and III. [nature.com]

  Frequent clinical findings include recurrent bacterial infections, deafness, hepatomegaly, and lenticular or corneal opacities. [emedicine.medscape.com]

• Corneal Opacity

  opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate Cleft roof of mouth 0000175 Fatigue Tired Tiredness [ more ] 0012378 Reduced bone [rarediseases.info.nih.gov]

  Frequent clinical findings include recurrent bacterial infections, deafness, hepatomegaly, and lenticular or corneal opacities. [emedicine.medscape.com]

• Suggestibility

  These findings suggest that the mutations in I-cell disease and classical pseudo-Hurler polydystrophy result in a missing enzyme component, which renders the enzyme catalytically inefficient toward any type of acceptor substrate. [ncbi.nlm.nih.gov]

This is the recommended test for the initial workup of a suspected oligosaccharidosis disorder. [mayomedicallaboratories.com]

(May 2017) Treatment[edit] There is no cure for Pseudo-Hurler Polydystrophy/Mucolipidosis IIIA. Treatment is limited to controlling or reducing symptoms associated with this disorder. [en.wikipedia.org]

Management and treatment There are currently no curative or disease-modifying treatments available for MLIII. [orpha.net]

Prognosis Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. [ninds.nih.gov]

Prognosis The MLIII α/ β subtype has a broad phenotypic range, from severely affected patients that die in childhood to milder affected patients displaying primarily skeletal symptoms, who survive into adulthood. [orpha.net]

It is difficult to predict the clinical phenotype from only enzymatic or biochemical characteristics.15 From a clinical standpoint, early prediction of prognosis is necessary. [nature.com]

PMID: 4201594 Prognosis Tiede S, Cantz M, Spranger J, Braulke T Hum Mutat 2006 Aug;27(8):830-1. doi: 10.1002/humu.9443. [ncbi.nlm.nih.gov]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology It is caused by mutation in a gene encoding the alpha and beta subunit precursor gene of GLcNAc-phos- photransferase. This gene is located on 12q23.2. [passeidireto.com]

The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes that have only modest effect on disease susceptibility. [ped-rheum.biomedcentral.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Summary Epidemiology MLII and mucolipidosis type III (MLIII) represent a spectrum of severity. The estimated combined prevalence at birth of MLII and MLIII is estimated between 1/ 37,000-455,000 worldwide. [orpha.net]

Epidemiology In 2005, Marsden et al compiled a report of physician narratives from an epidemiologic study regarding infantile-onset Pompe disease. [emedicine.medscape.com]

[citation needed] Pathophysiology[edit] As in Mucolipidosis II, Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase (N-acetylglucosamine-1-phosphotransferase). [en.wikipedia.org]

However, there is a great variability among patients - there are diagnosed individuals with ML III living in their sixties. [ citation needed ] Pathophysiology As in Mucolipidosis II, Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase [wikiwand.com]

Pathophysiology As in Mucolipidosis II, Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase ( N-acetylglucosamine-1-phosphotransferase ). [dictionnaire.sensagent.leparisien.fr]

This mutation was found in combination with severe mutations (i.e., mutations preventing the generation of active enzyme) in MLII and with mild mutations (i.e., mutations allowing the generation of active enzyme) in MLIIIA. [ncbi.nlm.nih.gov]

Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse [books.google.com]

Prevention of secondary complications : Because of concerns about airway management, surgical intervention should be undertaken only in tertiary care settings with pediatric anesthesiologists. [ismrd.org]

Mutations in the GNPTAB gene that cause mucolipidosis II alpha/beta prevent the production of any functional GlcNAc-1-phosphotransferase. Without this enzyme, digestive enzymes cannot be tagged with M6P and transported to lysosomes. [medlineplus.gov]

This mutation was the most frequent in their study and was found in both the homozygous and compound heterozygous state, in combination with severe mutations (i.e., mutations preventing the generation of active enzyme) in ML II and with mild mutations [catalog.coriell.org]