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1.
Cureus ; 15(9): e46279, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37908952

RESUMO

Cri-du-chat syndrome (CdCS) is a rare genetic disorder in which the short arm of chromosome 5 is deleted. This report aims to highlight a rare association with the syndrome. We present a preterm male delivered at 35 weeks gestation with an antenatal diagnosis of meningomyelocele. The patient's clinical examination revealed ruptured lumbosacral meningomyelocele, lower limb hypotonia, and hyporeflexia. The patient also displayed dysmorphic features, including microcephaly, a rounded face, low-set ears, and club feet. In addition, he is noted to have a high-pitched cry. Diagnosis of Chiari tonsil hernia type II was made by magnetic resonance imaging, and whole exome sequencing has confirmed CdCS. The spina bifida was surgically corrected, and the patient has since been cared for by a multidisciplinary team. The patient's short-term follow-up revealed a significant developmental delay. Few cases of CdCS associated with meningomyelocele have been reported. More evidence is needed to support a relevant association between CdCS and meningomyelocele.

2.
Cureus ; 12(9): e10472, 2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-33083174

RESUMO

Coronavirus disease 2019 (COVID-19) is an emergent disease that has spread rapidly to infect more than 210 countries across the world. With the increasing number of infected pregnant women, many physicians hypothesized the perinatal transmission as a potential route of transmission. Some cases of perinatal transmission have been described, but it is unclear if these occurred via the transplacental or the transcervical routes or through environmental exposure. In this report, we described a case of a female infant who was delivered by caesarean section at 34 weeks' gestation to an infected mother. The neonate was transferred into the Neonatal Intensive Care Unit (NICU) Level 3, with the precaution of airborne and contact isolation. All required investigations were performed, including blood gases, nasopharyngeal swab, chest x-ray, and echocardiogram. On the fifth day of delivery, her investigations demonstrated a positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Despite applying all recommended guidelines and following the treatment protocol, she developed severe respiratory symptoms with persistent pulmonary hypertension, which progressed significantly to her death.

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