TY - JOUR
T1 - The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia
T2 - Call for Change in Prenatal Diagnostic Procedures
AU - Čupāne, Tīna Luīze
AU - Dīriks, Mikus
AU - Tauriņa, Gita
AU - Korņejeva, Liene
AU - Gailīte, Linda
AU - Mālniece, Ieva
AU - Auzenbaha, Madara
N1 - Publisher Copyright:
© 2023 Tīna Luīze Čupāne et al.
PY - 2023/6/1
Y1 - 2023/6/1
N2 - This case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis, type 0 SMA, was determined 7 days after birth through a newborn pilot-screening for SMA, which was conducted for all newborns whose parents consented to participate. The condition of the infant deteriorated. He had severe respiratory distress followed by multiple events leading to his death. Currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as it can be related to genetic syndromes, foetal malformations, disruptions, and dysplasias. Since there is no cure for infants with type 0 SMA at present, it is crucial to be able to detect this disease prenatally in order to provide the best possible care for the patient and parents. This includes the provision of palliative care for the patient, among other measures. This case report highlights the prenatal signs and symptoms in relation to type 0 SMA.
AB - This case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis, type 0 SMA, was determined 7 days after birth through a newborn pilot-screening for SMA, which was conducted for all newborns whose parents consented to participate. The condition of the infant deteriorated. He had severe respiratory distress followed by multiple events leading to his death. Currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as it can be related to genetic syndromes, foetal malformations, disruptions, and dysplasias. Since there is no cure for infants with type 0 SMA at present, it is crucial to be able to detect this disease prenatally in order to provide the best possible care for the patient and parents. This includes the provision of palliative care for the patient, among other measures. This case report highlights the prenatal signs and symptoms in relation to type 0 SMA.
UR - http://www.scopus.com/inward/record.url?scp=85161830664&partnerID=8YFLogxK
U2 - 10.1155/2023/3480298
DO - 10.1155/2023/3480298
M3 - Article
AN - SCOPUS:85161830664
SN - 1687-9627
VL - 2023
JO - Case Reports in Medicine
JF - Case Reports in Medicine
M1 - 3480298
ER -