Diagnóstico clínico y genético mucolipidosis II - enfermedad células de inclusión

Sandra Viviana Caceres Matta; Luis Eduardo  Carmona Arango; Angel  Castro Dager

doi:10.47990/alop.v11i2.324

Autores

Sandra Viviana Caceres Matta Universidad del Sinú https://orcid.org/0000-0001-8277-607X
Luis Eduardo Carmona Arango Universidad de Cartagena - Facultad de Odontología , Posgrado de Odontopediatria y Ortopedia Maxilar , Grupo de Investigación PROMOUC https://orcid.org/0000-0002-0659-8328
Angel Castro Dager Facultad de Medicina, Universidad de Cartagena Unidad Hemato-oncología Pediátrica. Universidad de Cartagena. Clínica Blas de Lezo, Cartagena, Colombia.

DOI:

https://doi.org/10.47990/alop.v11i2.324

Palavras-chave:

Mucolipidose, diagnóstico, mutação, hiperplasia gengival, lisossomal

Resumo

A mucolipidose tipo II é um distúrbio autossômico recessivo caracterizado clinicamente por dismorfia facial e hiperplasia gengival grave. Relato de caso: É relatado o caso de uma paciente de 2 anos com diagnóstico de doença metabólica do tipo mucolipidose II. O exame físico revelou fácies grosseira, hiperplasia gengival sintomática generalizada acentuada na mandíbula superior e inferior, gengivas sangrantes, pescoço curto, com apoio de cabeça regular, pele fina, pectus excavatus, cotovelos normais, mãos com pega diminuída e pele grossa com xerose , Dificuldade em levantar os braços acima da cabeça, atraso no desenvolvimento neurológico global. Portanto, o caso foi tratado de forma multidisciplinar, permitindo que o paciente evoluísse de forma positiva para um tratamento integral, com melhora nas habilidades motoras. Conclusões: A sobreposição de fenótipos clínicos é um desafio diagnóstico para o pessoal de saúde em Odontología, especialmente nos casos de mucolipidose (ML) e distúrbios dos mucopolissacarídeos (MPS), devido à sobreposição de características clínicas.

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