Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report

Reis, Moema Ferreira dos; Pinheiro, Lucas Rodrigues; Pinheiro, Maria das Graças Rodrigues; Almeida, Haroldo Amorim de; Feio, Patricia do Socorro Queiroz; Almeida, Sâmia Cordovil de; Souza, Isabel Cristina Neves de; Giugliani, Roberto; Schwartz, Ida Vanessa Döederlein; Cavaleiro, Rosely Maria dos Santos; Pinheiro, João de Jesus Viana; Silva, Luiz Carlos Santana da

doi:10.1111/scd.12290

Cited by 3 publications

(5 citation statements)

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“…These studies showed that MPS patients can manifest with a tendency towards vertical growth of their face resulting in a dolichocephalic facial pattern (a relatively long face). 33 , 34 A high‐arched palate and a narrow maxilla have been found as well. Turra et al, 35 found a high‐arched palate in 71.2% ( n = 47) of MPS patients in a cross‐sectional study, but this study was not included in our database, because the MPS type was not specified.…”

Section: Discussionmentioning

confidence: 84%

“…Two studies presented results of cephalometric characteristics of MPS I ( n = 1), MPS IV ( n = 8), and MPS VI ( n = 9) patients. These studies showed that MPS patients can manifest with a tendency towards vertical growth of their face resulting in a dolichocephalic facial pattern (a relatively long face) 33,34 . A high‐arched palate and a narrow maxilla have been found as well.…”

Section: Discussionmentioning

confidence: 92%

“…Furthermore, a narrowed oropharynx and nasopharynx was mentioned in two MPS VI patients. Aberrant growth of the face, together with a decreased nasopharyngeal space may lead to breathing problems 33 . Besides maxillary abnormalities, mandible abnormalities correlated to respiratory difficulties have been found.…”

Section: Discussionmentioning

confidence: 99%

“…Aberrant growth of the face, together with a decreased nasopharyngeal space may lead to breathing problems. 33 Besides maxillary abnormalities, mandible abnormalities correlated to respiratory difficulties have been found. A high prevalence of OSAS (60%–75%) has been found by Koehne et al 36 in MPS I and VI patients, which was correlated to mandibular micrognathia.…”

Section: Discussionmentioning

confidence: 99%

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Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis typeIIandIII: A systematic review

et al. 2022

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Mucopolysaccharidoses (MPSs) and mucolipidosis II and III (ML II and III) often manifest with orofacial (progressive) abnormalities, which may have a major impact on quality of life. However, because these patients have multiple somatic health issues, orofacial problems are easily overlooked in clinical practice and available literature on this topic solely consists of case reports, small case series, and small cohort studies. The aim of this systematic review was to gain more insight in the nature and extent of orofacial abnormalities in MPS, ML II, and III. A systematic review of all previously published articles addressing orofacial abnormalities in MPS, ML II, and III was performed. Both clinical studies and case reports were included. Outcome was the described orofacial abnormalities, subdivided into abnormalities of the face, maxilla, mandible, soft tissues, teeth, and occlusion. The search resulted in 57 articles, describing orofacial features in 340 patients. Orofacial abnormalities were present in all subtypes of MPS, ML II, and III, and consisted of thickened lips, a hypoplastic midface, a high‐arched palate, hypoplastic condyles, coronoid hyperplasia, macroglossia, gingival hyperplasia, thick dental follicles, dentigerous cysts, misshapen teeth, enamel defects, and open bite. Orofacial abnormalities are present in all subtypes of MPS, ML II, and III. As orofacial abnormalities may cause complaints, evaluation of orofacial health should be part of routine clinical care.

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Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis typeIIandIII: A systematic review

et al. 2022

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“…La electroforesis bidimensional de mucopolisacaridosis en muestra de orina mostró un gran aumento de dermatán sulfato, lo que sugiere mucopolisacaridosis tipo VI. La deficiencia enzimática de la arilsulfatasa B fue identificada por ensayo de enzima ASB 9 de los fibroblastos cultivados de la paciente, la actividad de ABS fue 120 y el rango control de 300 a 900 nmol/h/mg.…”

Section: Reporte De Casounclassified

Manifestaciones orales del síndrome de Maroteaux-Lamy (Mucopolisacaridosis VI)

Matta

Arango

2021

Rev Cient Odontol (Lima)

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La mucopolisacaridosis tipo VI, también conocida como síndrome de Maroteaux-Lamy, es un trastorno lisosómico autosómico recesivo, causado por la deficiencia de la enzima arilsulfatasa B, lo que conduce a la acumulación de dermatán sulfato en los tejidos y su excreción urinaria. La deposición de mucopolisacáridos genera un trastorno progresivo que afecta a múltiples órganos y que, a menudo, resulta en la muerte a temprana edad. Esta enfermedad tiene varias manifestaciones orales, entre las que destacan las complicaciones dentales, que pueden ser graves e incluir folículos similares a quistes dentígeros, maloclusiones, defectos condilares e hiperplasia gingival, además de características clínicas como cuello corto, opacidad corneal, macroglosia y agrandamiento del cráneo, dimensión anteroposterior larga y mano en garra. Se presenta el caso de un paciente de 14 meses de edad que acudió a consulta de odontopediatría por episodios de fiebre, bajo peso e hiperplasia gingival severa. El examen físico evidenció facies tosca, cuello corto, pectus excavatus, manos con disminución en agarre y retardo en el neurodesarrollo. El examen intraoral halló retardo de la erupción dental, hiperplasia gingival generalizada y paladar con poco crecimiento transversal. El examen radiográfico detectó órganos dentarios incluidos y mala posición en el sector anterior, molares superiores dentro del seno maxilar y caninos inferiores rotados. El paciente fue remitido a medicina para exámenes bioquímicos y genéticos para definir el diagnóstico. La bioquímica reveló MPS tipo VI, lo que fue confirmado mediante prueba molecular. Las manifestaciones clínicas en este caso corresponden a la forma clínica de progresión rápida reportada en estos pacientes: talla baja, malformaciones esqueléticas y alteraciones a nivel oral. Los niños con MPS VI grave comienzan temprano y progresan rápidamente, las radiografías óseas y la medición de GAG en orina son útiles para el diagnóstico con actividad de la enzima ARSB y genética. Es necesario fortalecer el conocimiento en odontología y la población en general sobre las características clínicas de mucopolisacáridos tipo VI para tener un diagnóstico temprano y un mejor manejo de patologías en estos pacientes.

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Maroteaux-lamy syndrome (mucopolysaccharidosis VI) with abnormal coronoid and condylar processes of the mandible: Report of a case with surgical intervention

Shahrabi-Farahani,

Navabazam,

Mahzoun

2024

Journal of Oral and Maxillofacial Surgery, Medicine, and Pathol

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Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report

Abstract: By understanding the craniofacial growth changes in MPS VI patients, new treatment options may be developed for affected patients.

Cited by 3 publications

References 24 publications

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis typeIIandIII: A systematic review

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis typeIIandIII: A systematic review

Manifestaciones orales del síndrome de Maroteaux-Lamy (Mucopolisacaridosis VI)

Maroteaux-lamy syndrome (mucopolysaccharidosis VI) with abnormal coronoid and condylar processes of the mandible: Report of a case with surgical intervention

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