Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due ...Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbs in abnormal positions, or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. The baby was a live preterm male, born to a 30-year-old multigravida, out of a non-consanguineous marriage via cesarean section. There was no liquor at the time of delivery. The baby did not cry immediately after birth and required resuscitation, followed by mechanical ventilation. Multiple congenital anomalies suggestive of Potter’s syndrome were noted including facial features, flattened nose, low protruding ear, retrognathism, and epicanthal folds with unilateral atresia of the choana. Chest X-ray showed small volume lung fields suggestive of pulmonary hypoplasia, and we had on ultrasonography bilateral polycystic kidney disease on ultrasonography. At 42 hours of life, the baby developed tachypnea and severe chest retractions and died due to respiratory insufficiency. Our case highlights the importance of regular prenatal checks and examinations in each pregnancy, which helps to collect suspected cases and improve knowledge of this syndrome for better management.展开更多
Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affect...Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae.展开更多
Introduction: Despite advances in obstetrics and pediatrics over the past 20 years, premature birth remains an unpredictable event that can have a devastating impact on parenthood. This study aimed to a...Introduction: Despite advances in obstetrics and pediatrics over the past 20 years, premature birth remains an unpredictable event that can have a devastating impact on parenthood. This study aimed to analyze the psycho-affective experiences of fathers of premature newborns. Methods: This was a descriptive cross-sectional study, carried out in the department of neonatology and neonatal intensive care unit of the CHU Mohamed VI in OUJDA, over 6 months from March 2022 to August 2022. It focused on 30 fathers of premature newborns hospitalized in our department. Results: The majority of fathers described a state of fear and stress, and attributed their negative experience to the unexpected nature of the premature birth. At the first meeting, half the fathers had a positive image of their newborn’s physical appearance, while 22% of fathers reported feeling uncomfortable about their newborn’s low weight. Most fathers reported that they appreciated the welcome they received, the skill with which they cared for their newborn, and the availability of the pediatrician to provide information on their child’s state of health. Two fathers enjoyed skin-to-skin contact with their newborns. None of the fathers met a psychologist. When they returned home, half the fathers had a positive outlook, marked by happiness at being able to fully invest in their role as fathers, the other half reported being torn between the desire to see their child integrated into the family cocoon and the fear of not being able to manage delicate situations properly without a medical team. Conclusion: Bringing a premature baby into the world can be a difficult experience, leading to the development of even minor psychological distress in some fathers, and hence the need for specific psychological care.展开更多
Salmonella meningitis is an uncommon condition in neonates, and when it does occur, it is often linked to serious complications, such as subdural collections and abscesses. We present a case involving a 23-day-old neo...Salmonella meningitis is an uncommon condition in neonates, and when it does occur, it is often linked to serious complications, such as subdural collections and abscesses. We present a case involving a 23-day-old neonate diagnosed with Salmonella meningitis, who developed complications including bilateral intra-parenchymal hematomas with ventricular involvement. The infant showed significant improvement following an extended course of systemic antibiotics and supportive care.展开更多
Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-cons...Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.展开更多
Factor VII deficiency is rare. It is an autosomal recessive inherited disease with an estimated prevalence of 1/1,000,000. We report the case of a newborn male from first-degree consanguineous parents admitted at 15 d...Factor VII deficiency is rare. It is an autosomal recessive inherited disease with an estimated prevalence of 1/1,000,000. We report the case of a newborn male from first-degree consanguineous parents admitted at 15 days of life due to a hemorrhagic syndrome. Hemostasis tests showed low prothrombin time (PT) and normal activated partial thromboplastin time (aPTT). A coagulation panel revealed isolated factor VII deficiency. In this case, we highlight the clinical, biological, and therapeutic aspects of this condition during the neonatal period.展开更多
Holoprosencephaly (HPE) is a rare brain malformation with multiple etiologies and is often associated with suggestive facial anomalies. This pathology is the result of a defect in the early development of the forebrai...Holoprosencephaly (HPE) is a rare brain malformation with multiple etiologies and is often associated with suggestive facial anomalies. This pathology is the result of a defect in the early development of the forebrain. There are three clinical forms: lobar, semi-lobar, alobar and another milder subtype of HPE called middle interhemispheric. In this clinical case, we present a newborn with alobar holoprosencephaly and we highlight the clinical, radiological and progressive clinical aspects of this illness during the neonatal period.展开更多
文摘Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbs in abnormal positions, or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. The baby was a live preterm male, born to a 30-year-old multigravida, out of a non-consanguineous marriage via cesarean section. There was no liquor at the time of delivery. The baby did not cry immediately after birth and required resuscitation, followed by mechanical ventilation. Multiple congenital anomalies suggestive of Potter’s syndrome were noted including facial features, flattened nose, low protruding ear, retrognathism, and epicanthal folds with unilateral atresia of the choana. Chest X-ray showed small volume lung fields suggestive of pulmonary hypoplasia, and we had on ultrasonography bilateral polycystic kidney disease on ultrasonography. At 42 hours of life, the baby developed tachypnea and severe chest retractions and died due to respiratory insufficiency. Our case highlights the importance of regular prenatal checks and examinations in each pregnancy, which helps to collect suspected cases and improve knowledge of this syndrome for better management.
文摘Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae.
文摘Introduction: Despite advances in obstetrics and pediatrics over the past 20 years, premature birth remains an unpredictable event that can have a devastating impact on parenthood. This study aimed to analyze the psycho-affective experiences of fathers of premature newborns. Methods: This was a descriptive cross-sectional study, carried out in the department of neonatology and neonatal intensive care unit of the CHU Mohamed VI in OUJDA, over 6 months from March 2022 to August 2022. It focused on 30 fathers of premature newborns hospitalized in our department. Results: The majority of fathers described a state of fear and stress, and attributed their negative experience to the unexpected nature of the premature birth. At the first meeting, half the fathers had a positive image of their newborn’s physical appearance, while 22% of fathers reported feeling uncomfortable about their newborn’s low weight. Most fathers reported that they appreciated the welcome they received, the skill with which they cared for their newborn, and the availability of the pediatrician to provide information on their child’s state of health. Two fathers enjoyed skin-to-skin contact with their newborns. None of the fathers met a psychologist. When they returned home, half the fathers had a positive outlook, marked by happiness at being able to fully invest in their role as fathers, the other half reported being torn between the desire to see their child integrated into the family cocoon and the fear of not being able to manage delicate situations properly without a medical team. Conclusion: Bringing a premature baby into the world can be a difficult experience, leading to the development of even minor psychological distress in some fathers, and hence the need for specific psychological care.
文摘Salmonella meningitis is an uncommon condition in neonates, and when it does occur, it is often linked to serious complications, such as subdural collections and abscesses. We present a case involving a 23-day-old neonate diagnosed with Salmonella meningitis, who developed complications including bilateral intra-parenchymal hematomas with ventricular involvement. The infant showed significant improvement following an extended course of systemic antibiotics and supportive care.
文摘Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.
文摘Factor VII deficiency is rare. It is an autosomal recessive inherited disease with an estimated prevalence of 1/1,000,000. We report the case of a newborn male from first-degree consanguineous parents admitted at 15 days of life due to a hemorrhagic syndrome. Hemostasis tests showed low prothrombin time (PT) and normal activated partial thromboplastin time (aPTT). A coagulation panel revealed isolated factor VII deficiency. In this case, we highlight the clinical, biological, and therapeutic aspects of this condition during the neonatal period.
文摘Holoprosencephaly (HPE) is a rare brain malformation with multiple etiologies and is often associated with suggestive facial anomalies. This pathology is the result of a defect in the early development of the forebrain. There are three clinical forms: lobar, semi-lobar, alobar and another milder subtype of HPE called middle interhemispheric. In this clinical case, we present a newborn with alobar holoprosencephaly and we highlight the clinical, radiological and progressive clinical aspects of this illness during the neonatal period.
