Dados do Trabalho

Título

CONGENITAL BAILEY BLOCH MYOPATHY: A CASE REPORT

Apresentação do caso

T.S.S., 15 years old, female, reports motor delay (she acquired gait at 18 months), frequent falls, joint fragility associated with hypermobility, and significant fatigue associated with long walks. In addition, she reported scoliosis with surgical indication. During hospitalization for surgery, she developed generalized muscle rigidity, masseter spasm, increased pCO2, rapid temperature rise (>38°C), and rapid reversal of symptoms after administration of Dantrolene, a clinical picture suggestive of malignant hyperthermia. The patient evolved with dysarthria, global muscle weakness and abolition of osteotendinous reflexes. She presented a CT scan of the skull with no changes, as well as laboratory tests. Biological material was collected for a new generation genetic test that revealed Bailey Bloch Congenital Myopathy.

Discussão

The Congenital Bailey's Myopathy is an autosomal recessive disease caused by mutation in the STAC3 gene characterized by muscle weakness present since the first year of life, arthrogryposis, ptosis, myopathic face, short stature and susceptibility to course with malignant hyperthermia induced by anesthesia.Some of these characteristics were found in the patient and could have already led to the diagnosis in childhood and predicted the risk of malignant hyperthermia during the preoperative period.

Comentários finais

After the diagnosis of Congenital Bailey Myopathy, the patient was referred to a center for neuromuscular diseases for follow-up with a multidisciplinary team, aiming symptomatic treatment and improvement of quality of life. Sometimes myopathies may go unnoticed for most of life when they do not make it difficult for the patient to perform activities of daily living. The present report aims to highlight the importance of suspecting congenital myopathies and pay attention to the risk of developing malignant hyperthermia.

Palavras Chave

Congenital Myopathy; STAC3 gene; Malignant hyperthemia.

Declaração de conflito de interesses de TODOS os autores

Não há conflito de interesse de nenhum dos autores