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Organo oficial de la Asociación Latinoamericana de Odontopediatría (ALOP)

2021, Number 2

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Rev Odotopediatr Latinoam 2021; 11 (2)

Clinical and genetic diagnosis of mucolipidosis II - inclusion cell disease

Caceres MSV, Carmona ALE, Castro DÁ

Language: Spanish
References: 30
Page: 293-305
PDF size: 494.90 Kb.


ABSTRACT

Mucolipidosis type II is an autosomal recessive disorder clinically characterized by facial dysmorphia and severe gingival hyperplasia. Case report: The case of a 2-year-old patient with a diagnosis of metabolic disease type mucolipidosis II is reported. Physical examination revealed coarse facies, marked generalized symptomatic gingival hyperplasia in the upper and lower jaw, bleeding gums, short neck, with regular head support, thin skin, pectus excavatus, normal elbows, hands with decreased grip, and thick skin with xerosis, difficulty raising the arms above the head, global neurodevelopmental delay. Therefore, the case was handled in a multidisciplinary way, allowing the patient to evolve in a positive way to comprehensive treatment, with improvement in motor skills. Conclusions: Overlapping clinical phenotypes are a diagnostic challenge for health personnel in Dentistry, especially in cases of mucolipidosis (ML) and mucopolysaccharide disorders (MPS), due to the overlapping of clinical characteristics.


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