Search

Congenital oropharyngeal teratoma is a rare tumor subtype with cells from the three germ layers, majorly being benign. Whereas teratoma develops early in intrauterine life, thus affecting the growth and development of adjacent structures, the purpose of this case report is to present the sequelae of this tumor in a child's oral cavity. Female child, 2 years and 3 months old referred by the otorhinolaryngologist for dental evaluation. The mother´s main complaint was the the child could not close her mouth. According to the child's medical record, at 34th week of gestation, during the routine ultrasound examination, the presence of the anechoic tumor mass was observed without Doppler signal, presenting a 3.2cm x 2.4cm diameter outside through the oral cavity. At 17 and 32 days of life, respectively, the excision of the largest and residual tumor located on the floor of the mouth was performed. Upon anatomopathological examination, the tumor with was classified as a mature teratoma. In the intraoral examination, a deep and atresia palate incomplete cleft palate, bone growth in the region of the posterior alveolar ridge of the maxilla, and in the posterior region of the mandible on the left side, "V" shaped mandible and microglossia, crowding were observed dental agenesis of the lower lateral incisors, absence of caries lesions, gingivitis and enamel development defects. The child will remain under the regular dental pediatric follow-up. Several sequelae were observed in the child's oral cavity and the need for multi-professional follow-up after excision of congenital oropharyngeal teratoma.

Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. Methods We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the “MPS Brazil Network” who were known to be alive in 2020 in Brazil (N = 13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. Results The majority of the patients were from the Northeast region of Brazil. Among the signs and symptoms that raised the clinical suspicion of MPS, coarse face was the most frequent; 58% of the patients had a history of non-immune hydrops fetalis. All the subjects presented short neck and trunk. The majority presented typical phenotypical signs of MPS disorders. They all presented neurodevelopmental delay and cognitive impairment. About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5 years, ranging from 1 to 14 years. Almost all patients (12/13) were homozygous for the c.526C>T (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875T>C (p.Leu292Pro), in a compound heterozygous with the c.526C>T (p.Leu176Phe) variant. Conclusions This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including a spectrum of severity and delayed diagnosis.