Introduction:Arterial ischemic stroke in newborns is an important cause of neonatal morbidity and mortality. Its pathophysiology and associated risk factors are not yet clearly understood and defined.Objective:The aim of this retrospective study was to investigate possible risk factors in diagnosed cases of PAIS (perinatal arterial ischemic stroke).Materials and methods:Case–control study. Clinical data of patients with PAIS diagnosis were analyzed. Two healthy controls were selected for each PAIS case, matched for gestational age. Risk factors were explored using univariable and multivariable analysis.Outcome:40 patients were included in the study, 24 males and 16 females; 52.5% of cases were diagnosed within the first month of birth, and 47.5% were retrospectively diagnosed. The results showed a male predominance (66.7%). The distribution of cerebral ischemic injury was predominantly medial cerebral artery (87.5%) and occurred more commonly in the left cerebral hemisphere (62.5%). Significant risk factors in the univariate analysis (P < 0.05) were primiparity, stillbirth, neonatal sepsis, asphyxia, twin pregnancy, placenta abruption, emergency cesarean section, Apgar score ≤7 after 5 min, breech presentation, and hyperbilirubinemia. In the multivariate analysis, primiparity (OR 11.74; CI 3.28–42.02), emergency cesarean section (OR 13.79; CI 3.51–54.13), birth asphyxia (OR 40.55; CI 3.08–532.94) and Apgar score ≤7 after 5 min (OR 13.75; CI 1.03–364.03) were significantly associated factors with PAIS. Only five (16.6%) patients had an abnormal thrombophilia study.Conclusion:Risk factors of primiparity, emergency cesarean section, birth asphyxia, and Apgar score ≤7 after 5 min were significantly associated with perinatal stroke. More studies with a larger number of patients and with prolonged follow up are required to establish more clearly the associated risk factors involved in this pathology.
X-linked hydrocephaly is a rare sex-linked genetic recessive condition occurring in 1/30,000 deliveries. Adduction of thumbs and mental retardation are additional associated clinical findings. We describe two cases of X-linked hydrocephaly with associated adducted thumbs that were diagnosed prenatally with the combined use of three-dimensional (3D) ultrasound and fetal blood sampling for cytogenetic and molecular analyses. This report suggests that 3D ultrasound can facilitate the identification of adducted thumbs in fetuses affected by X-linked hydrocephaly and supports evaluation of the fetal hands as an integral part of the ultrasound anatomical assessment in male fetuses with hydrocephaly secondary to aqueductal stenosis.
Stroke is an important cause of morbidity and mortality in children. Clinical presentation is diverse, and multiple risk factors have been described. The aim of this retrospective study is to describe the clinical presentation, risk factors, and the Pediatric National Institute of Health Stroke Scale (PedNIHSS) in a series of pediatric Chilean patients with the diagnosis of arterial ischemic stroke (AIS). Children diagnosed with AIS aged between 29 d and 18 y were enrolled (1989 to 2016). Clinical characteristics and risk factors were described. PedNIHSS severity score was estimated for patients older than 4 mo of age. Sixty-two patients were included, 66% were male, and the mean age of presentation was 3.5 y. Seventy-nine percent presented motor deficit, 45% seizures, and 15% consciousness impairment. Eighty-two percent had a unilateral stroke and 73% had anterior circulation territory affected. The main risk factors were arteriopathy (63%) and infection (43%). The PedNIHSS mean was 7.6, ranging between 0 and 17. In the categories in which it was possible to apply χ2 test, only the acute systemic conditions category was statistically significant (P = 0.03), being higher in the group of patients younger than 3 y old. We confirmed male predominance in AIS and the most frequent presenting symptom was motor deficit. We found at least 1 risk factor in all patients with complete information. We confirmed arteriopathy as the most frequent risk factor, and acute systemic conditions were higher in patients younger than 3 y old with statistical significance (P = 0.03). The majority of patients presented mild to moderate severity in the PedNIHSS score.
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