Dados do Trabalho

Título

NEMALINE MYOPATHY WITH SEVERE CONGENITAL MANIFESTATION

Apresentação do caso

Full-term newborn with reduced fetal movements during pregnancy, elective cesareansection, first child of a non-consanguineous couple with no family history of neurologicaldisease. Apgar 5-5, severe respiratory distress, cyanosis and cardiorespiratory arrest. Herequired cardiopulmonary resuscitation and mechanical ventilation, persisting withhypotonia. On examination, facial hypomimia and carp mouth with jaw drop, severehypotonia, immobile in bed, weak and exhaustible deep tendon reflexes, absence of suckingreflex and other primitive reflexes. Proximal strength of limbs 1+ and distal 2+.Arthrogryposis, myokymia and tongue fasciculation absent. The exams showed normal CPK,mild asymmetric dilatation of the lateral ventricles on MRI of the brain, echocardiogram withmoderate functional tricuspid regurgitation with slight increase in pulmonary pressure, patentductus arteriosus with left-right flow, and patent foramen ovale. The initial hypotheses were:SMA type 0, congenital myasthenia and congenital myopathy. The neuromuscular diseasespanel showed a heterozygous pathogenic mutation in the ACTA1 gene that is associatedwith nemaline myopathy with autosomal recessive or dominant inheritance. This congenitalmyopathy has no curative treatment so far. The patient was discharged home withsupportive care.

Discussão

Nemaline myopathy is a disease with variable phenotypewhose most common expression is bulbar muscular weakness and congenital severeperipheral weakness. Of the 12 genes associated with the disease, the most frequentlyinvolved are NEB and ACTA1. Diagnosis depends on molecular testing or biopsy withelectron microscopy and immunohistochemistry. Severe early-onset cases are associatedwith poor prognosis and high mortality.

Comentários finais

The severe hypotonic baby is a greatchallenge in the delivery room, thinking about neuromuscular causes enables a moreaggressive approach and delivery in a specialized center. The diagnosis depends onexpensive and difficult-to-access techniques in Brazil, however, it allows for notions ofprognosis and establishment of the risk of recurrence.

Referências (se houver)

Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021 Mar 9;96(10):e1425-e1436. doi: 10.1212/WNL.0000000000011458. Epub 2021 Jan 4. PMID: 33397769; PMCID: PMC8055318.

Sewry CA, Laitila JM, Wallgren-Pettersson C. Nemaline myopathies: a current view. J Muscle Res Cell Motil. 2019 Jun;40(2):111-126. doi: 10.1007/s10974-019-09519-9. Epub 2019 Jun 21. PMID: 31228046; PMCID: PMC6726674.

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Sem conflito de interesses