Dados do Trabalho

Título

PETER-PLUS SYNDROME: CASE REPORT OF A RARE SYNDROME WITH SEVERAL INVOLVEMENTS.

Apresentação do caso

Case Presentation
JLSA, 2 years old, male, born by cesarean delivery at 37 weeks, weighing 2646 g. His parents were non-consanguineous. He was born with bilateral total leucoma and was operated for congenital glaucoma in both eyes, with pressure control, but persisted with irreversible bilateral corneal opacity. He was classified with a level of protein-caloric malnutrition grade III at 1 year of age, due to difficulty gaining weight. In addition, he had facial dysmorphisms, bilateral cryptorchidism, cleft palate, neuropsychomotor developmental delay, difficulty accepting food and moderate hearing loss. A CT scan of the skull was performed at 3 months and hypoattenuation was detected in the subcortical and deep white matter of anatomical distribution in supratentorial topography. Considering the presentation, the complete exome sequencing was requested, in which a pathogenic variant was identified, in homozygosis, in intron 8 of the B3GLCT gene, associated with Peter-Plus Syndrome. The child is under multidisciplinary follow-up with the goal of improving his quality of life.

Discussão

Discussion:
This case evidences several complications presented by a child with Peter-Plus Syndrome, a rare disease that has an incidence of <1/1,000.00. It results from a pathogenic variant located in the B3GLCT gene. This syndrome has a strong component of vision impairment, causing anomalies in the anterior chamber, the most common of which is Peter's Anomaly, which consists of central corneal opacification, decreased thickness of the posterior cornea, and iridocorneal adhesions. These patients may also have cataracts and glaucoma. In about 80% of cases the child may have some level of intellectual disability.

Comentários finais

Conclusion
Bearing in mind that this rare syndrome exposes the patient to a delicate clinical condition, it is necessary for the scientific community to research more and publish more works on this pathology, to help health professionals to deal better with patients and their families.

Referências (se houver)

Palavras Chave

Peters anomaly; Peters plus syndrome; B3GLCT gene

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Eu, Déborah Araújo Leitão, autor responsável pela submissão do manuscrito intitulado PETER-PLUS SYNDROME: CASE REPORT OF A RARE SYNDROME WITH SEVERAL INVOLVEMENTS, e todos os coautores que aqui se apresentam, declaramos que não possuímos conflitos de interesse de nenhuma ordem.

Área

Neurogenética