Existe una multitud de enfermedades metabólicas caracterizadas por la presencia de facies tosca. La mayoría de ellas son enfermedades por acúmulo y presentan un fenotipo progresivo que va haciéndose más evidente con la edad, por lo que el diagnóstico temprano es dificultoso. La mejor estrategia es implementar un screening dirigido, utilizando los GAG de forma sistemática aunque la sospecha sea baja.
332710
{332710:V94WAFP5}
1
vancouver
50
default
4169
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22V94WAFP5%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Galimberti%20et%20al.%22%2C%22parsedDate%22%3A%222018-11-16%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3EGalimberti%20C%2C%20Madeo%20A%2C%20Di%20Rocco%20M%2C%20Fiumara%20A.%20Mucopolysaccharidoses%3A%20early%20diagnostic%20signs%20in%20infants%20and%20children.%20Italian%20Journal%20of%20Pediatrics%20%5BInternet%5D.%202018%20Nov%2016%20%5Bcited%202023%20Jan%2022%5D%3B44%282%29%3A133.%20Available%20from%3A%20%3Ca%20class%3D%27zp-ItemURL%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2Fs13052-018-0550-5%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2Fs13052-018-0550-5%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Mucopolysaccharidoses%3A%20early%20diagnostic%20signs%20in%20infants%20and%20children%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cinzia%22%2C%22lastName%22%3A%22Galimberti%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Annalisa%22%2C%22lastName%22%3A%22Madeo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maja%22%2C%22lastName%22%3A%22Di%20Rocco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Agata%22%2C%22lastName%22%3A%22Fiumara%22%7D%5D%2C%22abstractNote%22%3A%22Mucopolysaccharidoses%20%28MPS%29%20comprise%20a%20group%20of%20lysosomal%20disorders%20that%20are%20characterized%20by%20progressive%2C%20systemic%20clinical%20manifestations%20and%20a%20coarse%20phenotype.%20The%20different%20types%2C%20having%20clinical%2C%20biochemical%2C%20and%20genetic%20heterogeneity%2C%20share%20key%20clinical%20features%20in%20varying%20combinations%2C%20including%20joint%20and%20skeletal%20dysplasia%2C%20coarse%20facial%20features%2C%20corneal%20clouding%2C%20inguinal%20or%20abdominal%20hernias%2C%20recurrent%20upper%20respiratory%20tract%20infections%2C%20heart%20valve%20disease%2C%20carpal%20tunnel%20syndrome%2C%20and%20variable%20neurological%20involvement.%20In%20the%20severe%20forms%2C%20these%20features%20usually%20appear%20in%20the%20first%20months%20of%20life%2C%20but%20a%20correct%20diagnosis%20is%20often%20reached%20later%20when%20suggestive%20signs%20are%20manifest.%20All%20MPS%20types%20may%20have%20severe%20or%20attenuated%20presentations%20depending%20on%20the%20residual%20enzymatic%20activity%20of%20the%20patient.%20Based%20on%20data%20from%20the%20literature%20and%20from%20personal%20experience%2C%20here%20we%20underline%20the%20very%20early%20signs%20of%20the%20severe%20forms%20which%20should%20alert%20the%20paediatrician%20on%20their%20first%20appearance.%20A%20few%20early%20signs%20are%20typical%20of%20MPS%20%28i.e.%20gibbus%29%20while%20many%20are%20unspecific%20%28hernias%2C%20upper%20airway%20infections%2C%20organomegaly%2C%20etc.%29%2C%20and%20finding%20the%20association%20of%20many%20unspecific%20signs%20might%20prompt%20the%20paediatrician%20to%20search%20for%20a%20common%20cause%20and%20to%20carefully%20look%20for%20other%20more%20specific%20signs%20%28gibbus%20and%20other%20skeletal%20deformities%2C%20heart%20murmur%29.%20We%20stress%20the%20need%20to%20increase%20awareness%20of%20MPS%20among%20paediatricians%20and%20other%20specialists%20to%20shorten%20the%20still%20existing%20diagnostic%20delay.%20A%20timely%20diagnosis%20is%20mandatory%20for%20the%20commencement%20of%20treatment%20as%20soon%20as%20possible%2C%20when%20available%2C%20to%20possibly%20obtain%20better%20results.%22%2C%22date%22%3A%222018-11-16%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2Fs13052-018-0550-5%22%2C%22ISSN%22%3A%221824-7288%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2Fs13052-018-0550-5%22%2C%22collections%22%3A%5B%22WSXVZUQX%22%5D%2C%22dateModified%22%3A%222023-01-22T11%3A00%3A11Z%22%7D%7D%5D%7D
1.
Galimberti C, Madeo A, Di Rocco M, Fiumara A. Mucopolysaccharidoses: early diagnostic signs in infants and children. Italian Journal of Pediatrics [Internet]. 2018 Nov 16 [cited 2023 Jan 22];44(2):133. Available from: https://doi.org/10.1186/s13052-018-0550-5
332710
{332710:RIIMELFG}
1
vancouver
50
default
4169
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22RIIMELFG%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Escolar%20et%20al.%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3EEscolar%20M%2C%20Bradshaw%20J%2C%20Byers%20VT%2C%20Giugliani%20R%2C%20Golightly%20L%2C%20Louren%26%23xE7%3Bo%20CM%2C%20et%20al.%20Development%20of%20a%20Clinical%20Algorithm%20for%20the%20Early%20Diagnosis%20of%20Mucopolysaccharidosis%20III.%20J%20inborn%20errors%20metab%20screen%20%5BInternet%5D.%202020%20%5Bcited%202023%20Jan%2022%5D%3B8%3Ae20200002.%20Available%20from%3A%20%3Ca%20class%3D%27zp-ItemURL%27%20href%3D%27http%3A%5C%2F%5C%2Fwww.scielo.br%5C%2Fscielo.php%3Fscript%3Dsci_arttext%26pid%3DS2326-45942020000100401%26tlng%3Den%27%3Ehttp%3A%5C%2F%5C%2Fwww.scielo.br%5C%2Fscielo.php%3Fscript%3Dsci_arttext%26pid%3DS2326-45942020000100401%26tlng%3Den%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Development%20of%20a%20Clinical%20Algorithm%20for%20the%20Early%20Diagnosis%20of%20Mucopolysaccharidosis%20III%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maria%22%2C%22lastName%22%3A%22Escolar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jessica%22%2C%22lastName%22%3A%22Bradshaw%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Valerie%20Tharp%22%2C%22lastName%22%3A%22Byers%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Roberto%22%2C%22lastName%22%3A%22Giugliani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lynn%22%2C%22lastName%22%3A%22Golightly%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Charles%20Marques%22%2C%22lastName%22%3A%22Louren%5Cu00e7o%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kimberly%22%2C%22lastName%22%3A%22McDonald%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nicole%22%2C%22lastName%22%3A%22Muschol%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Imogen%22%2C%22lastName%22%3A%22Newsom-Davis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cara%22%2C%22lastName%22%3A%22O%5Cu2019Neill%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Holly%20L.%22%2C%22lastName%22%3A%22Peay%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jennifer%22%2C%22lastName%22%3A%22Siedman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Martha%20L.%22%2C%22lastName%22%3A%22Solano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tessa%22%2C%22lastName%22%3A%22Wirt%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tim%22%2C%22lastName%22%3A%22Wood%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lonnie%22%2C%22lastName%22%3A%22Zwaigenbaum%22%7D%5D%2C%22abstractNote%22%3A%22Mucopolysaccharidosis%20III%20%28MPS%20III%29%20is%20a%20rare%20inherited%20metabolic%20disease%20primarily%20affecting%20the%20central%20nervous%20system%2C%20leading%20to%20developmental%20and%5C%2For%20speech%20regression.%20Early%20diagnosis%20of%20the%20disease%20is%20important%20to%20introduce%20appropriate%20management%20measures%20and%20to%20optimize%20therapeutic%20outcomes.%20The%20diagnosis%20of%20MPS%20III%20is%20often%20significantly%20delayed%20due%20to%20the%20rarity%20of%20the%20disease%2C%20the%20more%20attenuated%20somatic%20presentation%20compared%20to%20other%20MPS%20types%2C%20and%20the%20symptom%20overlap%20with%20other%20developmental%20disorders.%20To%20shorten%20the%20time%20to%20diagnosis%2C%20a%20list%20of%20eight%20early%20signs%20and%20symptoms%20was%20identified%20through%20an%20expert%20system%20approach%20by%20a%20global%2C%20multidisciplinary%20working%20group%20of%2013%20specialists%20with%20expertise%20in%20various%20aspects%20of%20MPS%20and%20developmental%20disorders%20and%20three%20parents%20of%20MPS%20III%20patients.%20Coarse%20facial%20features%20and%20persistent%20hirsutism%20or%20prominent%2C%20thick%20eyebrows%20were%20identified%20as%20the%20most%20important%20MPS%20III%20early%20signs.%20The%20list%20of%20eight%20early%20MPS%20III%20signs%20and%20symptoms%20is%20the%20first%20step%20towards%20the%20development%20of%20a%20clinical%20algorithm%20aiming%20to%20identify%20neonates%20and%20infants%20with%20MPS%20III%20before%20the%20onset%20of%20neurocognitive%20damage%2C%20ultimately%20shortening%20the%20diagnostic%20journey%20of%20MPS%20III%20patients.%22%2C%22date%22%3A%222020%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1590%5C%2F2326-4594-jiems-2020-0002%22%2C%22ISSN%22%3A%222326-4594%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.scielo.br%5C%2Fscielo.php%3Fscript%3Dsci_arttext%26pid%3DS2326-45942020000100401%26tlng%3Den%22%2C%22collections%22%3A%5B%22WSXVZUQX%22%5D%2C%22dateModified%22%3A%222023-01-22T10%3A58%3A31Z%22%7D%7D%5D%7D
1.
Escolar M, Bradshaw J, Byers VT, Giugliani R, Golightly L, Lourenço CM, et al. Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. J inborn errors metab screen [Internet]. 2020 [cited 2023 Jan 22];8:e20200002. Available from: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401&tlng=en
MPS I (Síndrome de Hurler-Scheie).
332710
{332710:VFBGNRDJ}
1
vancouver
50
default
4169
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22VFBGNRDJ%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3Ehome%20%5BInternet%5D.%20%5Bcited%202023%20Jan%2022%5D.%20MPS%20I%20Disease%20Spectrum%20%7C%20Patients.%20Available%20from%3A%20%3Ca%20class%3D%27zp-ItemURL%27%20href%3D%27https%3A%5C%2F%5C%2Fwww.mps1disease.com%5C%2Fpatients%5C%2Fabout%5C%2Fdisease-spectrum%27%3Ehttps%3A%5C%2F%5C%2Fwww.mps1disease.com%5C%2Fpatients%5C%2Fabout%5C%2Fdisease-spectrum%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22webpage%22%2C%22title%22%3A%22MPS%20I%20Disease%20Spectrum%20%7C%20Patients%22%2C%22creators%22%3A%5B%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.mps1disease.com%5C%2Fpatients%5C%2Fabout%5C%2Fdisease-spectrum%22%2C%22language%22%3A%22en-US%22%2C%22collections%22%3A%5B%22WSXVZUQX%22%5D%2C%22dateModified%22%3A%222023-01-22T11%3A11%3A41Z%22%7D%7D%5D%7D
1.
home [Internet]. [cited 2023 Jan 22]. MPS I Disease Spectrum | Patients. Available from: https://www.mps1disease.com/patients/about/disease-spectrum
MPS II (Síndrome de Hunter).
MPS III (Sanfilippo).
332710
{332710:RIIMELFG},{332710:354VCQ8M},{332710:SJN8DP8I}
1
vancouver
50
default
4169
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22RIIMELFG%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Escolar%20et%20al.%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3EEscolar%20M%2C%20Bradshaw%20J%2C%20Byers%20VT%2C%20Giugliani%20R%2C%20Golightly%20L%2C%20Louren%26%23xE7%3Bo%20CM%2C%20et%20al.%20Development%20of%20a%20Clinical%20Algorithm%20for%20the%20Early%20Diagnosis%20of%20Mucopolysaccharidosis%20III.%20J%20inborn%20errors%20metab%20screen%20%5BInternet%5D.%202020%20%5Bcited%202023%20Jan%2022%5D%3B8%3Ae20200002.%20Available%20from%3A%20%3Ca%20class%3D%27zp-ItemURL%27%20href%3D%27http%3A%5C%2F%5C%2Fwww.scielo.br%5C%2Fscielo.php%3Fscript%3Dsci_arttext%26pid%3DS2326-45942020000100401%26tlng%3Den%27%3Ehttp%3A%5C%2F%5C%2Fwww.scielo.br%5C%2Fscielo.php%3Fscript%3Dsci_arttext%26pid%3DS2326-45942020000100401%26tlng%3Den%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Development%20of%20a%20Clinical%20Algorithm%20for%20the%20Early%20Diagnosis%20of%20Mucopolysaccharidosis%20III%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maria%22%2C%22lastName%22%3A%22Escolar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jessica%22%2C%22lastName%22%3A%22Bradshaw%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Valerie%20Tharp%22%2C%22lastName%22%3A%22Byers%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Roberto%22%2C%22lastName%22%3A%22Giugliani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lynn%22%2C%22lastName%22%3A%22Golightly%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Charles%20Marques%22%2C%22lastName%22%3A%22Louren%5Cu00e7o%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kimberly%22%2C%22lastName%22%3A%22McDonald%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nicole%22%2C%22lastName%22%3A%22Muschol%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Imogen%22%2C%22lastName%22%3A%22Newsom-Davis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cara%22%2C%22lastName%22%3A%22O%5Cu2019Neill%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Holly%20L.%22%2C%22lastName%22%3A%22Peay%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jennifer%22%2C%22lastName%22%3A%22Siedman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Martha%20L.%22%2C%22lastName%22%3A%22Solano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tessa%22%2C%22lastName%22%3A%22Wirt%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tim%22%2C%22lastName%22%3A%22Wood%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lonnie%22%2C%22lastName%22%3A%22Zwaigenbaum%22%7D%5D%2C%22abstractNote%22%3A%22Mucopolysaccharidosis%20III%20%28MPS%20III%29%20is%20a%20rare%20inherited%20metabolic%20disease%20primarily%20affecting%20the%20central%20nervous%20system%2C%20leading%20to%20developmental%20and%5C%2For%20speech%20regression.%20Early%20diagnosis%20of%20the%20disease%20is%20important%20to%20introduce%20appropriate%20management%20measures%20and%20to%20optimize%20therapeutic%20outcomes.%20The%20diagnosis%20of%20MPS%20III%20is%20often%20significantly%20delayed%20due%20to%20the%20rarity%20of%20the%20disease%2C%20the%20more%20attenuated%20somatic%20presentation%20compared%20to%20other%20MPS%20types%2C%20and%20the%20symptom%20overlap%20with%20other%20developmental%20disorders.%20To%20shorten%20the%20time%20to%20diagnosis%2C%20a%20list%20of%20eight%20early%20signs%20and%20symptoms%20was%20identified%20through%20an%20expert%20system%20approach%20by%20a%20global%2C%20multidisciplinary%20working%20group%20of%2013%20specialists%20with%20expertise%20in%20various%20aspects%20of%20MPS%20and%20developmental%20disorders%20and%20three%20parents%20of%20MPS%20III%20patients.%20Coarse%20facial%20features%20and%20persistent%20hirsutism%20or%20prominent%2C%20thick%20eyebrows%20were%20identified%20as%20the%20most%20important%20MPS%20III%20early%20signs.%20The%20list%20of%20eight%20early%20MPS%20III%20signs%20and%20symptoms%20is%20the%20first%20step%20towards%20the%20development%20of%20a%20clinical%20algorithm%20aiming%20to%20identify%20neonates%20and%20infants%20with%20MPS%20III%20before%20the%20onset%20of%20neurocognitive%20damage%2C%20ultimately%20shortening%20the%20diagnostic%20journey%20of%20MPS%20III%20patients.%22%2C%22date%22%3A%222020%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1590%5C%2F2326-4594-jiems-2020-0002%22%2C%22ISSN%22%3A%222326-4594%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.scielo.br%5C%2Fscielo.php%3Fscript%3Dsci_arttext%26pid%3DS2326-45942020000100401%26tlng%3Den%22%2C%22collections%22%3A%5B%22WSXVZUQX%22%5D%2C%22dateModified%22%3A%222023-01-22T10%3A58%3A31Z%22%7D%7D%2C%7B%22key%22%3A%22354VCQ8M%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Delgadillo%20et%20al.%22%2C%22parsedDate%22%3A%222013-12-06%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3EDelgadillo%20V%2C%20O%26%23x2019%3BCallaghan%20M%20del%20M%2C%20Gort%20L%2C%20Coll%20MJ%2C%20Pineda%20M.%20Natural%20history%20of%20Sanfilippo%20syndrome%20in%20Spain.%20Orphanet%20Journal%20of%20Rare%20Diseases%20%5BInternet%5D.%202013%20Dec%206%20%5Bcited%202023%20Jan%2022%5D%3B8%281%29%3A189.%20Available%20from%3A%20%3Ca%20class%3D%27zp-ItemURL%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2F1750-1172-8-189%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2F1750-1172-8-189%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Natural%20history%20of%20Sanfilippo%20syndrome%20in%20Spain%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ver%5Cu00f3nica%22%2C%22lastName%22%3A%22Delgadillo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maria%20del%20Mar%22%2C%22lastName%22%3A%22O%5Cu2019Callaghan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Laura%22%2C%22lastName%22%3A%22Gort%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maria%20Josep%22%2C%22lastName%22%3A%22Coll%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mercedes%22%2C%22lastName%22%3A%22Pineda%22%7D%5D%2C%22abstractNote%22%3A%22Mucopolysaccharidosis%20type%20III%20%28MPS%20III%29%2C%20or%20Sanfilippo%20syndrome%2C%20is%20caused%20by%20a%20deficiency%20in%20one%20of%20the%20four%20enzymes%20involved%20in%20the%20lysosomal%20degradation%20of%20heparan%20sulphate.%20Four%20MPS%20III%20types%20have%20been%20recognized%2C%20characterized%20by%20a%20large%20phenotypic%20heterogeneity.%20This%20is%20the%20first%20Spanish%20study%20describing%20the%20natural%20history%20of%20Sanfilippo%20patients%20%28MPSIIIA%2C%20MPSIIIB%20and%20MPSIIIC%29%2C%20representing%20an%20essential%20step%20for%20understanding%20patient%20prognosis%20and%20for%20the%20establishment%20and%20application%20of%20future%20therapies.%22%2C%22date%22%3A%222013-12-06%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2F1750-1172-8-189%22%2C%22ISSN%22%3A%221750-1172%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2F1750-1172-8-189%22%2C%22collections%22%3A%5B%22WSXVZUQX%22%5D%2C%22dateModified%22%3A%222023-01-22T10%3A58%3A10Z%22%7D%7D%2C%7B%22key%22%3A%22SJN8DP8I%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Wijburg%20et%20al.%22%2C%22parsedDate%22%3A%222013%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3EWijburg%20FA%2C%20W%26%23x119%3Bgrzyn%20G%2C%20Burton%20BK%2C%20Tylki-Szyma%26%23x144%3Bska%20A.%20Mucopolysaccharidosis%20type%20III%20%28Sanfilippo%20syndrome%29%20and%20misdiagnosis%20of%20idiopathic%20developmental%20delay%2C%20attention%20deficit%5C%2Fhyperactivity%20disorder%20or%20autism%20spectrum%20disorder.%20Acta%20Paediatrica%20%5BInternet%5D.%202013%20%5Bcited%202018%20Oct%2018%5D%3B102%285%29%3A462%26%23x2013%3B70.%20Available%20from%3A%20%3Ca%20class%3D%27zp-ItemURL%27%20href%3D%27http%3A%5C%2F%5C%2Fdoi.wiley.com%5C%2F10.1111%5C%2Fapa.12169%27%3Ehttp%3A%5C%2F%5C%2Fdoi.wiley.com%5C%2F10.1111%5C%2Fapa.12169%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Mucopolysaccharidosis%20type%20III%20%28Sanfilippo%20syndrome%29%20and%20misdiagnosis%20of%20idiopathic%20developmental%20delay%2C%20attention%20deficit%5C%2Fhyperactivity%20disorder%20or%20autism%20spectrum%20disorder%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Frits%20A%22%2C%22lastName%22%3A%22Wijburg%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Grzegorz%22%2C%22lastName%22%3A%22W%5Cu0119grzyn%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Barbara%20K%22%2C%22lastName%22%3A%22Burton%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anna%22%2C%22lastName%22%3A%22Tylki-Szyma%5Cu0144ska%22%7D%5D%2C%22abstractNote%22%3A%22Mucopolysaccharidosis%20III%20is%20a%20rare%20genetic%20disease%20characterized%20by%20progressive%20cognitive%20decline%20and%20severe%20hyperactivity%20that%20does%20not%20respond%20to%20stimulants.%20Somatic%20features%20are%20relatively%20mild.%20Patients%20are%20often%20initially%20misdiagnosed%20as%20having%20idiopathic%20developmental%20delay%2C%20attention%20de%5Cufb01cit%5C%2Fhyperactivity%20disorder%20and%5C%2For%20autism%20spectrum%20disorders%2C%20putting%20them%20at%20risk%20for%20unnecessary%20testing%20and%20treatments.%20Conclusion%3A%20Children%20with%20developmental%20or%20speech%20delay%2C%20especially%20those%20with%20a%20characteristic%20somatic%20feature%20or%20behavioural%20abnormalities%2C%20should%20be%20screened%20for%20MPS%20III.%22%2C%22date%22%3A%2205%5C%2F2013%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1111%5C%2Fapa.12169%22%2C%22ISSN%22%3A%2208035253%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fdoi.wiley.com%5C%2F10.1111%5C%2Fapa.12169%22%2C%22collections%22%3A%5B%22WSXVZUQX%22%5D%2C%22dateModified%22%3A%222018-10-18T15%3A38%3A44Z%22%7D%7D%5D%7D
1.
Escolar M, Bradshaw J, Byers VT, Giugliani R, Golightly L, Lourenço CM, et al. Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. J inborn errors metab screen [Internet]. 2020 [cited 2023 Jan 22];8:e20200002. Available from: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401&tlng=en
1.
Delgadillo V, O’Callaghan M del M, Gort L, Coll MJ, Pineda M. Natural history of Sanfilippo syndrome in Spain. Orphanet Journal of Rare Diseases [Internet]. 2013 Dec 6 [cited 2023 Jan 22];8(1):189. Available from: https://doi.org/10.1186/1750-1172-8-189
1.
Wijburg FA, Węgrzyn G, Burton BK, Tylki-Szymańska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatrica [Internet]. 2013 [cited 2018 Oct 18];102(5):462–70. Available from: http://doi.wiley.com/10.1111/apa.12169
English 
Spanish