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In neonates, pulmonary diseases such as bronchopulmonary dysplasia and other chronic lung diseases (CLDs) pose significant challenges due to their complexity and high degree of morbidity and mortality. This review discusses the etiology, pathophysiology, clinical presentation, and diagnostic criteria for these conditions, as well as current management strategies. The review also highlights recent advancements in understanding the pathophysiology of these diseases and evolving strategies for their management, including gene therapy and stem cell treatments. We emphasize how supportive care is useful in managing these diseases and underscore the importance of a multidisciplinary approach. Notably, we discuss the emerging role of personalized medicine, enabled by advances in genomics and precision therapeutics, in tailoring therapy according to an individual's genetic, biochemical, and lifestyle factors. We conclude with a discussion on future directions in research and treatment, emphasizing the importance of furthering our understanding of these conditions, improving diagnostic criteria, and exploring targeted treatment modalities. The review underscores the need for multicentric and longitudinal studies to improve preventative strategies and better understand long-term outcomes. Ultimately, a comprehensive, innovative, and patient-centered approach can enhance the quality of care and outcomes for neonates with CLDs.
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Zinc (Zn) is a vital trace element that plays a pivotal role in protein synthesis, cellular growth, and differentiation and is involved as a cofactor of metalloenzymes, performing a wide variety of metabolic, immune, and synthesis roles. Zn is required at all stages of an infant's and child's development, and severe Zn deficiency has been reported to lead to slower physical, cognitive, and sexual growth. Preterm neonates are at a higher risk of developing zinc deficiency for a variety of reasons, including low Zn intake from enteral feeds containing breast milk, relative malabsorption due to immaturity of the gastrointestinal tract with limited absorptive capacity, increased urinary loss of zinc, and increased demand during the early developmental stages. Moreover, premature infants are at risk of gastrointestinal diseases like necrotizing enterocolitis (NEC), which can limit absorption capacity and potentially lead to malabsorption. TPN is frequently used in preterm infants to provide them with sufficient nutrients and calories. However, it has its own complications, including cholestasis, especially if used for prolonged periods. In this case report, we are presenting the case of a male preterm infant who was delivered by caesarean section at 26 weeks' gestation. The baby developed an intestinal perforation due to NEC, for which he underwent surgery for resection of the necrotic bowel and the creation of a high ileal stoma and was put on prolonged total parenteral nutrition (TPN), which led to the development of zinc deficiency.
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Dengue viruses (DENVs) are single-stranded RNA viruses belonging to the family Flaviviridae. There are four distinct antigenically related serotypes, DENVs types 1, 2, 3, and 4. These are all mosquito-borne human pathogens. Congenital dengue disease occurs when there is mother-to-fetus transmission of the virus and should be suspected in endemic regions in neonates presenting with fever, maculopapular rash, and thrombocytopenia. Although most of the infected infants remain asymptomatic, some can develop clinical manifestations such as sepsis-like illness, gastric bleeding, circulatory failure, and death. Neurological manifestations include intracerebral hemorrhages, neurological malformations, and acute focal/disseminated encephalitis/encephalomyelitis. Dengue NS1Ag, a highly conserved glycoprotein, can help the detection of cases in the viremic stage. We do not have proven specific therapies yet; management is largely supportive and is focused on close monitoring and maintaining adequate intravascular volume.
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Group B streptococcal (GBS) infection is one of the leading causes of neonatal sepsis worldwide. Despite a significant decline in early-onset (EOS) sepsis due to intrapartum antibiotic prophylaxis, the incidence of late-onset (LOS) infection has remained unchanged. However, LOS GBS sepsis affecting twins is very rare. We report on preterm twins born at 29 weeks of gestation: Twin B was 31 days old when he developed LOS GBS sepsis and meningitis, and Twin A was 35 days old when he developed LOS GBS sepsis. Tests for maternal GBS colonization in breast milk were negative. Both babies were treated with antibiotics and eventually discharged without complications.
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Aplasia cutis congenita type VI is a genetic disorder that presents with congenital skin absence, blistering, and nail abnormalities. We present the case of a male newborn who presented with an absence of skin in the entire left leg and the lower part of the left thigh. On the second day of life, he had new skin lesions that started to appear over the fingernail beds, nasal bridge, thighs, and buttocks. There were no other associated anomalies such as pyloric atresia, renal abnormalities, or ureteral stenosis. A diagnosis of Bart's syndrome was made based on clinical diagnosis and previous presentation in the family. The patient developed sepsis and osteomyelitis of the lower limb and eventually died.
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We report a female infant who was born at 41+6 weeks of gestation to a consanguineous parent, and the initial newborn examination was within normal. At 12 hours of age, she developed tachypnea; with desaturation, she had continuous thick whitish oral secretion. Admitted to the neonatal intensive care unit (NICU) for further management, her initial blood investigation, including blood gas and chest X-ray, was normal. Due to the persistent unexplained respiratory distress with a normal chest X-ray, we obtained a further history from parents with three siblings with respiratory symptoms but no definitive diagnosis. The genetic testing of whole-exome sequences (WES) confirmed a homozygous variant c.804_806del, p.(Lys268del) in the RSPH9 gene that causes primary ciliary dyskinesia (PCD). Her three siblings were tested and found to have the same genetic mutation.
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Granular 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. However, immediate surgical treatment is required if there is a risk of airway obstruction or feeding difficulties. We report two cases of granular cell epulis presented at birth, the first with a large mass originating from the maxillary alveolar ridge and the second with the mass originating from the mandibular alveolar ridge. Both were successfully managed with surgical excision without complications. Histopathology of both masses confirmed the granular cell epulis diagnosis.
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A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan. Clinical findings at birth included short stature, bowed long bone affecting the lower limbs more than the upper limbs, severe joint contractures with restricted movement, failure to thrive, hypertonia, and camptodactyly of the index fingers. During infancy, the baby is noted to have sucking and swallowing difficulties necessitated nasogastric tube feeding, and recurrent respiratory distress episodes with frequent admissions due to respiratory failure required intensive care admission and mechanical ventilation. The skeletal survey demonstrated dysplasia of long bones and spine. To investigate a suspect genetic syndrome, a whole-exome sequencing test was performed, which identified a novel homozygous mutation in the LIFR gene.
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Aneuploidy 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. Other frequently found double aneuploidies include 48,XXX,+21; 48,XXY,+18, and 48,XXX,+18. Here, we report the case of double aneuploidy (Down-Klinefelter syndrome) in a Saudi newborn with the clinical features of Down syndrome, along with hypothyroidism and congenital heart disease, who was admitted to our neonatal intensive care unit. To our knowledge, this is the first case of its kind reported from the Kingdom of Saudi Arabia.
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Corona virus disease 2019 is a global pandemic, which affects around 2million individuals with a high death rate that exceeds 90,000 death cases across the globe. The Saudi Heart Association and the national cardiopulmonary resuscitation committee developed a taskforce to discuss the magnitude of clinical situation and CPR management on COVID-19 patients in a prehospital and in-hospital settings. Meanwhile, the taskforce aims to develop a nation-wide clinical guidance to be used by health care workers and untrained laypersons to resuscitate COVID-19 suspected and diagnosed patients.
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We report a rare case of a preterm infant with a diagnosis of hydrops fetalis, associated with parvovirus B19 infection. At birth, the infant had severe ascites. She recovered and was discharged in later good condition. In follow-up at 10 years of age, she still had severe isolated hypoplasia of the abdominal muscles. Isolated hypoplasia of the abdominal muscles after parvovirus B19 infection appears to be a separate entity, which should be differentiated from other abdominal wall anomalies.
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Músculos Abdominales/fisiopatología , Hidropesía Fetal/diagnóstico , Parvovirus B19 Humano/aislamiento & purificación , Diagnóstico Diferencial , Femenino , Humanos , Hidropesía Fetal/diagnóstico por imagen , Hidropesía Fetal/terapia , Lactante , Recien Nacido Prematuro , Paracentesis , FototerapiaRESUMEN
Here we describe a case of a premature neonate who showed initial improvement after being on invasive ventilation. She was gradually weaned to room air and was started on a feeding protocol for preterm infants together with total parenteral nutrition through a peripherally inserted central catheter (PICC) when she suddenly deteriorated and developed respiratory distress associated with signs of shock, requiring support from a high-setting mechanical ventilation as well as an inotropic support. A full sepsis work-up was ordered and she was started on antibiotics. The diagnosis was confirmed on chest X-ray and ultrasound, which showed automigration and displacement of the PICC line from its initial site on the left side to the right lung base, causing significant right-side pleural effusion which affected her haemodynamics. The PICC line was removed, and 30 hours later the pleural effusion completely resolved and the patient improved. She was discharged from hospital without any concerns with regard to growth and development during her regular follow-up.
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Cateterismo Periférico , Falla de Equipo , Derrame Pleural , Respiración Artificial/métodos , Insuficiencia Respiratoria , Retratamiento/métodos , Cateterismo Periférico/efectos adversos , Cateterismo Periférico/instrumentación , Cateterismo Periférico/métodos , Catéteres Venosos Centrales/efectos adversos , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Unidades de Cuidado Intensivo Neonatal , Nutrición Parenteral Total/instrumentación , Nutrición Parenteral Total/métodos , Derrame Pleural/diagnóstico , Derrame Pleural/etiología , Derrame Pleural/fisiopatología , Derrame Pleural/terapia , Radiografía Torácica/métodos , Insuficiencia Respiratoria/diagnóstico , Insuficiencia Respiratoria/etiología , Insuficiencia Respiratoria/fisiopatología , Insuficiencia Respiratoria/terapia , Resultado del Tratamiento , Ultrasonografía/métodosRESUMEN
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. This report is important to gain more information about corneal perforation clinical presentation in neonates, investigation, and management.
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Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal growth retardation with marked microcephaly. However, it includes characteristic skeletal dysplasia, abnormal dentition and increased risk for cerebrovascular diseases. Recent reports added more features, including café-au-lait lesions, cutis marmorata, astigmatism, Moyamoya disease, insulin resistance, obesity, abnormal skin pigmentation and acanthosis nigricans around the neck. Clearly, the more MOPDII reports that are produced, the more information will be added to the spectrum of MOPDII features that can improve our understanding of this disorder. In this paper, we reported a new case of MOPDII with more severe clinical features, earlier onset of common features, in addition to a homozygous novel variant in the PCNT gene.