Spinal Muscular Atrophy With Congenital Bone Fractures 2: A Case Report Of The First Latin American Patient
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Abstract
Background: Spinal muscular atrophy with congenital bone fractures (SMABF2, OMIM #616867) was firstly described in 2016 by two independent groups. The cases reported the medical journey of newborns affected by a new manifestation of spinal muscular
atrophy with the presence of congenital bone fractures. This exceedingly rare condition is induced by autosomal recessive mutations in the ASCC1 gene, leading to fetal hypokinesia/akinesia, neuromotor degeneration, hypotonia, congenital fractures, joint contractures followed by a short postpartum life expectancy in most cases. Here, we report the first case of SMABF2 in Latin America. Case Report: A male, 33-weeks-old preterm patient, son of non-consanguineous parents, presented with fetal hypokinesia, arthrogryposis of hands and feet, hypotonia, thin ribs and respiratory effort in the first minute of life, depending on mechanical ventilation as well as nasogastric tube. The patient was then diagnosed with SMABF2. Discussion: To the best of our knowledge, there are eleven cases of SMABF2 in the literature. All patients had neonatal respiratory depression, congenital fractures and arthrogryposis. Besides these clinical manifestations, the patient presented neonatal hypotonia and muscle atrophy, which were not verified in all the previous case reports. Although restricted to bed since birth, life expectancy of the patient (1.3y) is longer than the previously reported (death shortly after birth or within a few days of life).
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References
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