Dados do Trabalho

Título

MUTATION IN THE TANGO2 GENE IN A PEDIATRIC PATIENT

Apresentação do caso

Patient A.S.P, male, two years old, started with fever on june 2021 associated with others viral symptoms. Three days after, he was admitted on the pediatric emergency room with hypotonia of the trunk and limbs. He also referred pain and paresis mainly in the lower limbs. Transferred to intensive care unit he evolved with dysphagia and worsening of the motor condition, maintaining only eye movement. He also required a nasoenteric tube and did not need ventilatory support. On the eleventh day, he started with spontaneous and progressive improvement of the condition. He was discharged on beginning of july with mild cervical hypotonia, sitting without support and receiving oral feeding. In december 2021 and march 2022, he sought the pediatric emergency room again with the same symptoms. After the first hospitalization, the follow-up and outpatient investigation began. He performed several laboratory tests and the diagnosis was made through the DNA genetic test, which showed a mutation in the TANGO2 gene.

Discussão

The TANGO2 gene-related disease is an autosomal recessive disorder. Mutations in this gene have been identified as the cause of a pediatric disease with multiple organ involvement. The TANGO family of proteins plays a crucial role in the interaction of the Golgi apparatus and the endoplasmic reticulum. The manifastations usually occur between six months and nine years old. These include episodic rhabdomyolysis, severe metabolic crises, hypoglycemia, lactic acidemia, high CPK, increased ammonia and cardiac arrhythmias. Usually triggered by stress, such as illness or fasting.

Comentários finais

As it is a disease with few known cases, it is necessary to keep a close eye on patients who have episodes of rhabdomyolysis, severe metabolic crisis and significant increase in CPK, which appear in outbreaks. Thus, it becomes possible to carry out new
diagnoses and, consequently, provide family genetic counseling.

Referências (se houver)

1) Lalani SR, Graham B, Burrage L, Lai YC, Scaglia F, Soler-Alfonso C, Miyake CY, Yang Y. TANGO2-Related Metabolic Encephalopathy and Arrhythmias. 2018 Jan 25 [updated 2018 Dec 20]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 29369572.
2) Hoebeke C, Cano A, De Lonlay P, Chabrol B. Clinical phenotype associated with TANGO2 gene mutation. Arch Pediatr. 2021 Jan;28(1):80-86. doi: 10.1016/j.arcped.2020.11.004. Epub 2020 Dec 17. PMID: 33342685.

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

The authors whose names are listed declare there is no conflict of interest.

Área

Neurogenética