ABSTRACT
Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.
La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.
Subject(s)
Skin Diseases, Vascular/diagnosis , Syndactyly/diagnosis , Telangiectasis/diagnosis , Humans , Infant, Newborn , Infant, Premature , Male , PrognosisABSTRACT
La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.
Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.
Subject(s)
Humans , Male , Infant, Newborn , Prognosis , Telangiectasis/diagnosis , Infant, Premature , Skin Diseases, Vascular/diagnosis , Syndactyly/diagnosisABSTRACT
Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.
El síndrome de artrogriposis, disfunción tubular renal y colestasis es un trastorno fatal infrecuente que compromete múltiples aparatos y sistemas de órganos. Es un trastorno autosómico recesivo hereditario, causado por defectos en los genes VPS33B y VIPAR. Los tres signos primordiales de este síndrome son la artrogriposis, la disfunción tubular renal y la colestasis. Otros compromisos orgánicos a veces asociados con este síndrome son ictiosis, malformación del sistema nervioso central, anomalías trombocíticas, defectos cardíacos congénitos y grave retraso del crecimiento. Las manifestaciones clínicas, la biopsia de un órgano y los análisis de mutaciones pueden ayudar con el diagnóstico, pero no existe un tratamiento curativo; solamente puede instaurarse un tratamiento sintomático. Varios síntomas de esta afección usualmente se manifiestan en el período neonatal: artrogriposis, colestasis neonatal, lesiones cutáneas, entre otros. En general, la supervivencia se prolonga hasta el primer año de vida. Presentamos el caso de una recién nacida con una rápida evolución y desenlace fatal.
Subject(s)
Arthrogryposis/complications , Cholestasis/etiology , Infant, Newborn, Diseases/etiology , Renal Insufficiency/complications , Arthrogryposis/diagnosis , Cholestasis/diagnosis , Fatal Outcome , Female , Humans , Infant, Newborn , Infant, Newborn, Diseases/diagnosis , Renal Insufficiency/diagnosisABSTRACT
El síndrome de artrogriposis, disfunción tubular renal y colestasis es un trastorno fatal infrecuente que compromete múltiples aparatos y sistemas de órganos. Es un trastorno autosómico recesivo hereditario, causado por defectos en los genes VPS33B y VIPAR. Los tres signos primordiales de este síndrome son la artrogriposis, la disfunción tubular renal y la colestasis. Otros compromisos orgánicos a veces asociados con este síndrome son ictiosis, malformación del sistema nervioso central, anomalías trombocíticas, defectos cardíacos congénitos y grave retraso del crecimiento. Las manifestaciones clínicas, la biopsia de un órgano y los análisis de mutaciones pueden ayudar con el diagnóstico, pero no existe un tratamiento curativo; solamente puede instaurarse un tratamiento sintomático. Varios síntomas de esta afección usualmente se manifiestan en el período neonatal: artrogriposis, colestasis neonatal, lesiones cutáneas, entre otros. En general, la supervivencia se prolonga hasta el primer año de vida. Presentamos el caso de una recién nacida con una rápida evolución y desenlace fatal.
Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.
Subject(s)
Humans , Female , Infant, Newborn , Arthrogryposis/complications , Arthrogryposis/diagnosis , Cholestasis/diagnosis , Cholestasis/etiology , Fatal Outcome , Renal Insufficiency/complications , Renal Insufficiency/diagnosis , Infant, Newborn, Diseases/diagnosis , Infant, Newborn, Diseases/etiologyABSTRACT
La intubación convencional para la asistencia respiratoria en niños con vía aérea dificultosa puede ser un desafío incluso en manos expertas. Los rápidos avances en la atención respiratoria han reducido la incidencia de intubación traqueal dificultosa y por ende las complicaciones. Sin embargo, en algunos pacientes, todavía ocurren complicaciones graves inesperadas. Describimos el caso de un neonato con secuencia de Pierre Robin con vía aérea dificultosa, que presentó una migración del tubo endotraqueal hacia el esófago luego de haberse desprendido del conector del tubo. Deseamos compartir esta experiencia ya que, de acuerdo con nuestro conocimiento, esta complicación no ha sido comunicada anteriormente en neonatos.(AU)
Conventional intubation for pulmonary management in children with a difficult airway may be very challenging even in skilled hands. Rapid advancements in respiratory care have reduced the incidence of difficult tracheal intubation and the incidence of complications have decreased accordingly. However, serious unexpected complications still occur in some patients today. Herein, we describe a syndromic newborn infant with a difficult airway who experienced migration of the endotracheal tube into the esophagus after displacement of the tube connector. We would like to share our experience and contribute to the literature with the presentation of this undesired event. To the best of our knowledge, no such complication has been reported in the neonatal literature before.(AU)
ABSTRACT
La intubación convencional para la asistencia respiratoria en niños con vía aérea dificultosa puede ser un desafío incluso en manos expertas. Los rápidos avances en la atención respiratoria han reducido la incidencia de intubación traqueal dificultosa y por ende las complicaciones. Sin embargo, en algunos pacientes, todavía ocurren complicaciones graves inesperadas. Describimos el caso de un neonato con secuencia de Pierre Robin con vía aérea dificultosa, que presentó una migración del tubo endotraqueal hacia el esófago luego de haberse desprendido del conector del tubo. Deseamos compartir esta experiencia ya que, de acuerdo con nuestro conocimiento, esta complicación no ha sido comunicada anteriormente en neonatos.
Conventional intubation for pulmonary management in children with a difficult airway may be very challenging even in skilled hands. Rapid advancements in respiratory care have reduced the incidence of difficult tracheal intubation and the incidence of complications have decreased accordingly. However, serious unexpected complications still occur in some patients today. Herein, we describe a syndromic newborn infant with a difficult airway who experienced migration of the endotracheal tube into the esophagus after displacement of the tube connector. We would like to share our experience and contribute to the literature with the presentation of this undesired event. To the best of our knowledge, no such complication has been reported in the neonatal literature before.
Subject(s)
Humans , Infant, Newborn , Male , Equipment Failure , Intubation, Intratracheal/instrumentation , Oxygen Inhalation Therapy , Pierre Robin Syndrome/therapy , Esophagus , Nose , Oxygen Inhalation Therapy/methods , PharynxABSTRACT
Conventional intubation for pulmonary management in children with a difficult airway may be very challenging even in skilled hands. Rapid advancements in respiratory care have reduced the incidence of difficult tracheal intubation and the incidence of complications have decreased accordingly. However, serious unexpected complications still occur in some patients today. Herein, we describe a syndromic newborn infant with a difficult airway who experienced migration of the endotracheal tube into the esophagus after displacement of the tube connector. We would like to share our experience and contribute to the literature with the presentation of this undesired event. To the best of our knowledge, no such complication has been reported in the neonatal literature before.
Subject(s)
Equipment Failure , Intubation, Intratracheal/instrumentation , Oxygen Inhalation Therapy , Pierre Robin Syndrome/therapy , Esophagus , Humans , Infant, Newborn , Male , Nose , Oxygen Inhalation Therapy/methods , PharynxABSTRACT
Airway management is one of the key aspects of neonatal anesthesia, and an oropharyngeal airway is used in daily intensive care practice to relieve upper-airway obstruction. Cleft palate is among the various congenital malformations that can cause difficult airway management. We describe a syndromic infant with alobar holoprosencephaly, whose long-term airway patency was maintained with a modified infant pacifier. We would like to share our experience and contribute to the literature with the introduction of a readily available and easily-inserted apparatus.
Subject(s)
Airway Management/methods , Airway Obstruction/therapy , Cleft Palate/complications , Pacifiers , Airway Obstruction/etiology , Holoprosencephaly , Humans , Infant, Newborn , Male , Oropharynx/anatomy & histologyABSTRACT
Conventional intubation for pulmonary management in children with a difficult airway may be very challenging even in skilled hands. Rapid advancements in respiratory care have reduced the incidence of difficult tracheal intubation and the incidence of complications have decreased accordingly. However, serious unexpected complications still occur in some patients today. Herein, we describe a syndromic newborn infant with a difficult airway who experienced migration of the endotracheal tube into the esophagus after displacement of the tube connector. We would like to share our experience and contribute to the literature with the presentation of this undesired event. To the best of our knowledge, no such complication has been reported in the neonatal literature before.
Subject(s)
Calcium Gluconate/adverse effects , Catheterization, Central Venous , Catheterization, Peripheral , Enterocolitis, Necrotizing/therapy , Extravasation of Diagnostic and Therapeutic Materials/etiology , Medical Errors , Parenteral Nutrition, Total/adverse effects , Cellulitis/etiology , Enterocolitis, Necrotizing/diagnosis , Extravasation of Diagnostic and Therapeutic Materials/diagnosis , Extravasation of Diagnostic and Therapeutic Materials/therapy , Gestational Age , Humans , Infant, Newborn , Infant, Premature , Male , Treatment OutcomeABSTRACT
In breastfeeding newborns who are otherwise healthy, the mechanism of prolonged jaundice remains unclear. The aim of this study was to investigate relations between prolonged jaundice and oxidative parameters in breast milk. Full-term, otherwise healthy newborns with jaundice lasting more than 2 weeks were enrolled prospectively in the study. As a control group, newborns in the same age group but without prolonged jaundice were selected. All newborns in the study were exclusively breastfed. In the newborns with prolonged jaundice, investigations of the etiology of the jaundice included complete blood count, peripheral blood smear, blood typing, direct Coombs test, measurement of serum levels of total and direct bilirubin, tests for liver and thyroid function (TSH, free T4, total T4), urine culture and measurement of urine reducing substances, and determination of glucose 6 phosphate dehydrogenase enzyme levels. Breast milk was collected from the mothers of the newborns in both groups. The antioxidant status of the breast milk was assessed via determination of total antioxidant capacity (TAC). Oxidative stress was also assessed in breast milk by measurement of total oxidation status (TOS) and calculation of the oxidative stress index (OSI). The prolonged jaundice group differed significantly from the control group in terms of mean TAC and OSI (p < 0.001), but not in terms of TOS. In conclusion, in the breast milk of mothers of newborns with prolonged jaundice, oxidative stress was found to be increased, and protective antioxidant capacity was found to be decreased.
