Otologic and Laryngologic Manifestations of Mucopolysaccharidoses after Bone Marrow Transplantation

Papsin, B.C.; Vellodi, Ashok; Bailey, C. M.; Ratcliffe, P. C.; Leighton, S. E. J.

doi:10.1016/s0194-5998(98)70371-7

Cited by 34 publications

(39 citation statements)

References 17 publications

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“…Hearing loss has been reported to be less severe in MPS patients who have undergone BMT [Papsin et al, 1998]. A rapid improvement in the conductive component of hearing loss and a delayed improvement in the sensorineural component was observed following BMT in MPS I patients [Guffon et al, 1998].…”

Section: Discussionmentioning

confidence: 99%

“…Progressive hearing loss and MR can result in impaired speech development and even regression of communication skills. Although there have been some reports on the otolaryngologic manifestations of this disease [Bredenkamp et al, 1992;Downs et al, 1995;Papsin et al, 1998;Peck, 1984;Simmons et al, 2005], the differences between the 2 clinical forms have not been described previously. Furthermore, the correlation of the development of communication skills with hearing loss and intelligence has not been evaluated either.…”

Section: Introductionmentioning

confidence: 97%

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Otologic Manifestations of Hunter Syndrome and Their Relationship with Speech Development

Cho¹,

Kim²,

Kim³

et al. 2008

Audiol Neurotol

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The excessive storage of mucopolysaccharide in Hunter syndrome leads to various otologic manifestations. We interviewed 19 patients with Hunter syndrome to assess their otologic problems, and conducted audiologic tests and temporal bone CT. Patients with the intermediate or severe form exhibited severe speech delay by more than 2 years (12/14 patients). However, in patients with the mild form (5/5), speech development was not much disturbed (2/5), although otoscopic findings were similar. The hearing threshold determined by the auditory brainstem response differed significantly between the mild and intermediate/severe forms (p < 0.05). Therefore, patients with the mild form may benefit from active otologic intervention such as VT insertion, amplification, and speech therapy.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

Otologic Manifestations of Hunter Syndrome and Their Relationship with Speech Development

Cho¹,

Kim²,

Kim³

et al. 2008

Audiol Neurotol

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“…These abnormalities cause sleep apnea and airway obstruction. In general, hearing loss may be both conductive and sensorineural [Shapiro et al, 1985;Papsin et al, 1998]. Middle ear effusion (MEE) is a frequent problem in patients with MPS II and may lead to conductive hearing loss.…”

Section: Introductionmentioning

confidence: 99%

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II

Hong

Chu²,

Kim

et al. 2012

American J of Med Genetics Pt A

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Mucopolysaccharidosis (MPS) II is an X-linked metabolic disorder caused by dysfunction of iduronate-2-sulfatase (I2S). This abnormality causes the progressive accumulation of incompletely degraded glycosaminoglycans (GAGs) in the lysosomes. The auditory characteristics of MPS II in mouse models have not been reported. In this study, we evaluated the auditory characteristics of the MPS II in IDS knock-out (IDS-KO) mice. In addition, the effect of enzyme replacement therapy (ERT) on hearing was studied. The IDS-KO mice had normal histology of the cochlea and retained good hearing at 7 weeks of age. However, at 17 weeks of age, the hearing thresholds of the IDS-KO mice were elevated and exudates were found in the middle ear. The hearing thresholds of the enzyme-treated IDS-KO (IDS-ERT) mice were similar to the wild-type (WT) mice at 17 weeks. Moreover, the microstructure of the inner ear was similar to the IDS-KO by transmission electron microscopy. The histology findings indicated that the microstructure of the inner ear was similar in comparisons between IDS-KO and IDS-ERT mice, even after 10 weeks of treatment. However, the hearing deficits in the MPS II mouse model can be prevented if ERT is started before the onset of hearing impairment.

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“…Avaliação histológica do osso temporal sugere haver uma interferên-cia no desenvolvimento em torno de 5 a 6 meses de idade gestacional; havendo diminuição da pneumatização da mastoide, persistência de cápsula ótica cartilaginosa adjacente ao canal semicircular posterior e aumento da artéria subarcuata (10). As perdas auditivas condutivas estão relacionadas à presença de efusão e comprometimento ossicular em orelha media (11). Nesta avaliação não foi verificada clinicamente presença de efusão em orelha media destes pacientes, o que pode ser explicado pela idade de avaliação, pelo uso de terapia de reposição enzimática, ou pela opacificação da membrana timpânica, havendo necessidade de acompanhamento a longo prazo e comparação com pacientes que não estejam em uso da terapia.…”

Section: Discussionunclassified

A importância da avaliação otorrinolaringológica de pacientes com mucopolissacaridose

Bicalho¹,

Rezende²,

Nogueira³

et al. 2011

Arquivos Int. Otorrinolaringol. (Impr.)

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RESUMOIntrodução: Mucopolissacaridose (MPS) é um conjunto de doenças raras causadas pela deficiência de enzimas lisossômicas levando ao acúmulo de glicosaminoglanos (GAG) em órgãos e tecidos, responsáveis pelo quadro clínico multissistêmico, crônico e progressivo. Objetivo: Descrever o perfil do exame clínico otorrinolaringológico de pacientes acompanhados no submetidos à Terapia de Reposição Enzimática (TRE) e propor um algoritmo de acompanhamento otorrinolaringológico para estes pacientes. Método: Realizado estudo de série de casos incluindo 21 pacientes com MPS I, II e VI. Resultados: As queixas otorrinolaringológicas mais frequentes foram obstrução nasal, roncos, respiração bucal. A presença de apneia foi relatada em 31% dos casos. No exame físico a macroglossia foi a principal alteração (41%) da orofaringoscopia. Na otoscopia, a retração da membrana timpânica esteve presente em 33% e a queixa de hipoacusia esteve presente em 45%. Conclusão: É importante avaliar as queixas, exame físico e o impacto das alterações associadas à respiração e audição produzidas pela MPS visando um melhor acompanhamento destes pacientes e a prevenção das alterações crônicas resultantes como a perda auditiva, distúrbios do sono e respiração bucal, promovendo assim uma melhor qualidade de vida destes pacientes.

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Otologic and Laryngologic Manifestations of Mucopolysaccharidoses after Bone Marrow Transplantation

Abstract: Diminution of the progression of hearing loss and voice abnormality probably occurs in patients after treatment by bone marrow transplantation.

Cited by 34 publications

References 17 publications

Otologic Manifestations of Hunter Syndrome and Their Relationship with Speech Development

Otologic Manifestations of Hunter Syndrome and Their Relationship with Speech Development

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II

A importância da avaliação otorrinolaringológica de pacientes com mucopolissacaridose

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