Ischemic limb lesions occasionally occur in neonates admitted to neonatal intensive care units. Known risk factors include the placement of arterial catheters, arterial punctures to obtain blood samples, and the use of vasoactive/vasopressor medications for hypotension. Prolonged peripheral tissue ischemia may result in serious complications, and successful management depends on early detection, proper assessment, and the institution of appropriate intervention.
View Article and Find Full Text PDFNemaline myopathy is a skeletal muscle disorder characterized by a wide range of severity and variable presentation. While most cases present in the neonatal period with symptoms, such as hypotonia, muscle weakness, and respiratory insufficiency, delayed onset in childhood or adulthood is also observed. The pathogenesis of nemaline myopathy involves at least 12 genes, and the condition can arise from de novo mutations or be inherited in a dominant or recessive manner.
View Article and Find Full Text PDFGranular cell epulis is a rare benign tumor of the newborn. It originates from the alveolar ridge, most commonly from the maxillary alveolar ridge. Despite its striking appearance, the lesion is ultimately benign.
View Article and Find Full Text PDFBladder rupture leading to urinary ascites in neonates is a very rare occurrence. It can present as a clinical emergency, requiring resuscitation, ventilator support, and acute derangement in renal function. There are only a few reported cases so far in the literature.
View Article and Find Full Text PDFAneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of the chromosomes. The most common type seen in live-born babies is trisomy. Double aneuploidy that leads to trisomy of two different chromosomes occurs due to accidental meiotic nondisjunction events; both can have the same or a different parental origin.
View Article and Find Full Text PDFInt J Pediatr Adolesc Med
March 2020
Spontaneous corneal perforation is very rare in neonates and children. Peters anomaly is associated with spontaneous corneal perforation. Herein, we describe a case of spontaneous corneal perforation in a 13-day-old Saudi infant who was admitted to the neonatal intensive care unit since birth.
View Article and Find Full Text PDFMultiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
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