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Bilateral diaphragmatic eventration and alveolar hypoventilation in congenital myotonic dystrophy

2021; Medical Association of São Paulo; Linguagem: Inglês

10.5327/1516-3180.533

1806-9460

João Victor Aguiar Moreira, Isabela Maria Bernardes Goulart, Diogo Fernandes dos Santos, Isabella Sabião Borges, Pedro Otávio Rego de Aguiar, Thaciany Soares Ferreira, Leonardo Peixoto Garcia, Glauber Mota Pacheco, Clarice Pereira Sales Oliveira, Gabriela Tomás Alves, Pedro Henrique Pereira Maciel, João Paulo Moreira Fernandes, Alencar Pereira dos Santos, Eustaquio Costa Damasceno, Mateus Barros Bueno, Rafael Lopes de Souza, Leonardo Rivelli Silvestre, Thales Junqueira Oliveira, Gabriel Nunes Melo Assunção, Maria Fernanda Prado Rosa,

Autoimmune Neurological Disorders and Treatments

Context: Congenital myotonic dystrophy (CMD) is a subtype of type 1 myotonic dystrophy presented in the neonatal period associated with a 16–40% mortality rate. CMD cause significant morbidity and mortality and often require intensive intervention at birth because of hypotonia, respiratory failure and feeding difficulties. It can cause respiratory problems including ineffective cough, recurrent pulmonary infections, orthopnea, dyspnea, poor sleep, apnea and snoring. However, there are few descriptions about diaphragmatic impairment in CMD. We present a baby who had bilateral diaphragmatic eventration associated with CMD. Case report: A term outborn female baby with normal birth weight, delivered by cesarean presenting hypotonia and breathing difficulty since birth. There was no history of meconium aspiration syndrome and aspiration pneumonia. Neurological examination showed a severe hypotonia, eyelid ptosis, oral motor weakness and suction inability, without contractures. Chest X-rays confirmed the bilateral diaphragmatic paralysis. Electroneuromyography confirmed a marked myopathic involvement with frequent myotonic discharges. The mother presented clinical and electrical myotonic phenomena. The baby started mechanical ventilation as was not maintaining saturation on head box oxygen. After surgical repair the baby started on non-invasive respiratory support with improvement of ventilatory conditions. Conclusion: Diaphragmatic eventration is a congenital condition where the muscle maintains its normal costal attachments but is significantly elevated with limited motility. Clinical manifestations vary to life-threatening respiratory distress. Bilateral congenital diaphragmatic eventration is rarer and has more guarded prognosis. Early diaphragmatic plication enhances weaning process and may prevent or minimize the morbidity. Infants with CMD should be monitored for diaphragmatic impairment.