Dados do Trabalho

Título

O'DONNELL-LURIA-RODAN SYNDROME - A RARE CASE REPOR

Apresentação do caso único

A 9-year-old male patient was born after an uneventful pregnancy. He was born at term, hypotonic, with evident facial dysmorphisms. He presented global developmental delay, intellectual difficulty, behavioral changes marked by irritability and aggressiveness, weakness of the lower limbs, dysphagia, and bilateral sensorineural hearing loss. A cranial MRI at 16 months showed hypoplasia of the inferior vermis, flattening of the pontobulbar region, dysgenesis of the corpus callosum, areas of hypersignal in the periventricular white matter, and diffuse atrophy of the brain parenchyma. Genetic investigation revealed the presence of a microdeletion 7q22.1-q31.2, which is associated with the phenotype of O'Donnell-Luria-Rodan Syndrome (ODLURO).

Discussão

The neurodevelopmental disorder related to KMT2E, the main gene involved in this copy number variation (CNV), is an autosomal dominant inheritance condition characterized by global developmental delay, variable intellectual disability, hypotonia, dysmorphisms, behavioral changes, and sleep and eating disorders. The ODLURO syndrome, as it is known, was first described in the literature in 2019, and only 61 cases have been reported to date. The main molecular mechanism associated with the syndrome is single nucleotide variants (SNV), with CNVs responsible for approximately 2% of cases.

Comentários finais

We report a case of a rare genetic syndrome, the O'Donnell-Luria-Rodan syndrome, caused by an infrequent molecular mechanism, CNV, highlighting the importance of understanding the mechanisms causing the condition for appropriate genetic investigation and family counseling.

Referências

Pais L, Rodan L, O'Donnell-Luria A. KMT2E-Related Neurodevelopmental Disorder. 2024 Apr 18. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
Li Y, Fan L, Luo R, Yang Z, Yuan M, Zhang J, Gan J. Case report: de novo variants of KMT2E cause O'Donnell-Luria-Rodan syndrome: additional cases and literature review. Front Pediatr. 2021;9:641841.
Sharawat IK, Panda PK, Dawman L. Clinical characteristics and genotype-phenotype correlation in children with KMT2E gene-related neurodevelopmental disorders: report of two new cases and review of published literature. Neuropediatrics. 2021;52:98-104.

Palavras Chave

O'DONNELL-LURIA-RODAN SYNDROME; ODLURO; KMT2E gene