ABSTRACT
INTRODUCCIÓN: El ductus arterioso persistente (DAP) es frecuente en prematuros. Su cierre quirúrgico puede causar parálisis de cuerda vocal izquierda (PCVI) por lesión del recurrente. MATERIAL Y MÉTODOS: Estudio retrospectivo de prematuros con DAP de nuestro centro entre 1999-2013. Revisamos sus características y complicaciones de tratamiento. En los pacientes intervenidos se realizó una encuesta sobre síntomas relacionados con PCVI y se ofertó realizar una laringoscopia. RESULTADOS: Revisamos 88 pacientes diagnosticados de DAP en el período de estudio. Doce (13,64%) precisaron cirugía, los de menor edad gestacional y peso al nacer, teniendo mayor necesidad de ventilación mecánica e incidencia de parálisis diafragmática, displasia broncopulmonar y hemorragia intraventricular. El 33,3% (3/9) de los pacientes intervenidos tuvieron PCVI, presentando disfonía todos ellos (100 vs 16,7%, p = 0,05). DISCUSIÓN: La PCVI es una complicación frecuente de la cirugía del DAP. Serían necesarios más estudios que aclaren sus factores de riesgo y consecuencias a corto y largo plazo
INTRODUCTION: Patent ductus arteriosus (PDA) is a common problem in preterm newborns. Left vocal cord paralysis (LVCP) can complicate surgical closure if the recurrent nerve is damaged. MATERIALS AND METHODS: A retrospective case series study was conducted on preterm babies diagnosed with PDA in our unit from 1999 to 2013. Their clinical features and treatment complications were reviewed. In those patients that received surgical treatment a telephone uestionnaire on the symptoms of LVCP symptoms was completed, and laryncoscopy examination offered. RESULTS: A total of 88 subjects diagnosed with PDA were found, of whom 13.64% (12/88) needed surgery. These patients had a lower gestational age and birth weight. They required mechanical ventilation more frequently, and they had more complications such as, diaphragmatic paralysis, bronchopulmonary dysplasia and intraventricular hemorrhage. One third (3/9) of the surgically treated patients had LVCP, and all of them had dysphonia (100% vs. 16.7%, p = .05). DISCUSSION: LVCP is a common complication of PDA surgery. Further studies are needed to determine its risk factors and its short and long-term consequences
Subject(s)
Humans , Male , Female , Infant, Newborn , Paralysis/complications , Paralysis/diagnosis , Vocal Cord Paralysis/complications , Vocal Cord Paralysis/diagnosis , Ductus Arteriosus/abnormalities , Paralysis/congenital , Paralysis/metabolism , Vocal Cord Paralysis/mortality , Vocal Cord Paralysis/therapy , Ductus Arteriosus/metabolismABSTRACT
INTRODUCTION: Patent ductus arteriosus (PDA) is a common problem in preterm newborns. Left vocal cord paralysis (LVCP) can complicate surgical closure if the recurrent nerve is damaged. MATERIALS AND METHODS: A retrospective case series study was conducted on preterm babies diagnosed with PDA in our unit from 1999 to 2013. Their clinical features and treatment complications were reviewed. In those patients that received surgical treatment a telephone questionnaire on the symptoms of LVCP symptoms was completed, and laryncoscopy examination offered. RESULTS: A total of 88 subjects diagnosed with PDA were found, of whom 13.64% (12/88) needed surgery. These patients had a lower gestational age and birth weight. They required mechanical ventilation more frequently, and they had more complications such as, diaphragmatic paralysis, bronchopulmonary dysplasia and intraventricular hemorrhage. One third (3/9) of the surgically treated patients had LVCP, and all of them had dysphonia (100% vs. 16.7%, p=.05). DISCUSSION: LVCP is a common complication of PDA surgery. Further studies are needed to determine its risk factors and its short and long-term consequences.
Subject(s)
Cardiac Surgical Procedures/adverse effects , Ductus Arteriosus, Patent/surgery , Infant, Premature, Diseases/etiology , Postoperative Complications/etiology , Recurrent Laryngeal Nerve Injuries/etiology , Vocal Cord Paralysis/etiology , Female , Humans , Infant, Newborn , Infant, Premature , Male , Recurrent Laryngeal Nerve Injuries/complications , Retrospective StudiesABSTRACT
INTRODUCTION: Glutaric Acidaemia type I (GA-I) is an autosomal recessive progressive neurodegenerative inborn error of metabolism caused by deficient activity of the enzyme glutaryl-CoA dehydrogenase (GCDH). In most cases, the diagnosis is established biochemically by the detection of glutaric acid and 3-hydroxy glutaric acid in urine and glutarylcarnitine in plasma. Patients excreting small amounts of glutaric acid may be overlooked. OBJECTIVE: To investigate the value of expanded newborn screening by adding the measurement of urine glutarylcarnitine to conventional chromatography-mass spectrometry (GC-MS) in the diagnosis of GA-1. MATERIAL AND METHODS: We report clinical and biochemical data in 5 GA-I patients diagnosed in our Hospital. Details regarding biochemical diagnosis are emphasised and the absence or presence of symptoms was correlated with neuroimaging findings, age at diagnosis and treatment. RESULTS: Two patients showed high glutarylcarnitine levels in plasma and were identified by routine newborn GC-MS screening. Following early appropriate treatment they are asymptomatic 6 years later. Two patients with delayed diagnosis displayed neurological sequels in spite of treatment. The remaining patient, who presented with encephalopathic episode at age 8 months showed normal glutarylcarnitine levels in routine plasma GC-MS but high urine glutarylcarnitine levels in a retrospectively screened urine sample from the newborn period. CONCLUSIONS: Early treatment seems to positively influence the clinical evolution of GA-I patients. Thus, improving the identification of GA-I represents an important diagnostic challenge. The urinary excretion of glutarylcarnitine is a specific biochemical marker of GA-I and allows the identification of patients without glutaric aciduria and with normal plasma acylcarnitine profiles.
Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/therapy , Glutarates/blood , Early Diagnosis , Female , Humans , Infant, Newborn , Male , PrognosisABSTRACT
Introducción. La aciduria glutárica tipo I (AG-I) es un desorden metabólico de herencia autosómica recesiva y carácter progresivo debido al déficit de la enzima glutaril-CoA-deshidrogenasa (GCDH). El diagnóstico se realiza generalmente por una elevación del ácido glutárico y 3-hidroxiglutárico en la orina y de la glutarilcarnitina en el plasma. Existen casos falsos negativos en relación con la baja tasa excretora del ácido glutárico. Objetivo. Resaltar la importancia de la ampliación del cribado neonatal por espectrofotometría de masas en tándem (MS/MS) mediante la inclusión de la medición de glutarilcarnitina en la orina para su diagnóstico. Material y métodos. Se aportan los datos clínicos y el perfil bioquímico que llevaron al diagnóstico en 5 pacientes diagnosticados de AG-I en nuestro centro. Se analiza la evolución clínica y de neuroimagen en función de la edad, el diagnóstico y el inicio del tratamiento. Resultados. Dos casos de diagnóstico por cribado convencional mediante MS/MS siguieron un tratamiento precoz y están asintomáticos 6 años después. Dos pacientes de diagnóstico y tratamiento tardíos presentan secuelas neurológicas. El último paciente, diagnosticado a los 8 meses tras una presentación aguda encefalopática, mostraba valores de glutarilcarnitina en plasma en rango normal, mientras que el análisis retrospectivo de la orina del período neonatal reveló valores elevados de glutarilcarnitina. Conclusiones. El tratamiento temprano parece asociarse a una evolución neurológica favorable en pacientes con AG-I, por lo que su identificación precoz constituye un reto diagnóstico. La excreción urinaria de glutarilcarnitina es un marcador específico de AG-I y permite la identificación de pacientes sin aciduria glutárica y valores normales de glutarilcarnitina en sangre
Introduction. Glutaric Acidaemia type I (GA-I) is an autosomal recessive progressive neurodegenerative inborn error of metabolism caused by deficient activity of the enzyme glutaryl-CoA dehydrogenase (GCDH). In most cases, the diagnosis is established biochemically by the detection of glutaric acid and 3-hydroxy glutaric acid in urine and glutarylcarnitine in plasma. Patients excreting small amounts of glutaric acid may be overlooked. Objective. To investigate the value of expanded newborn screening by adding the measurement of urine glutarylcarnitine to conventional chromatography-mass spectrometry (GC-MS) in the diagnosis of GA-1. Material and methods. We report clinical and biochemical data in 5 GA-I patients diagnosed in our Hospital. Details regarding biochemical diagnosis are emphasised and the absence or presence of symptoms was correlated with neuroimaging findings, age at diagnosis and treatment. Results. Two patients showed high glutarylcarnitine levels in plasma and were identified by routine newborn GC-MS screening. Following early appropriate treatment they are asymptomatic 6 years later. Two patients with delayed diagnosis displayed neurological sequels in spite of treatment. The remaining patient, who presented with encephalopathic episode at age 8 months showed normal glutarylcarnitine levels in routine plasma GC-MS but high urine glutarylcarnitine levels in a retrospectively screened urine sample from the newborn period. Conclusions. Early treatment seems to positively influence the clinical evolution of GA-I patients. Thus, improving the identification of GA-I represents an important diagnostic challenge. The urinary excretion of glutarylcarnitine is a specific biochemical marker of GA-I and allows the identification of patients without glutaric aciduria and with normal plasma acylcarnitine profiles
Subject(s)
Humans , Male , Female , Infant , Child , Adolescent , Metabolic Diseases/diagnosis , Metabolic Diseases/therapy , Early Diagnosis , Glutamic Acid/metabolism , Mass Screening , PrognosisABSTRACT
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Subject(s)
Rotavirus Infections/economics , Rotavirus Infections/epidemiology , Costs and Cost Analysis/economics , Mass Vaccination/economics , Vaccination/economics , Diarrhea/economics , Diarrhea, Infantile/economics , Health Care Costs/trends , Cost of Illness , Prospective StudiesABSTRACT
Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is an unusual form of neurocutaneous syndrome. Clinically, this syndrome is characterized by unilateral lipomatous hamartomas on the scalp and face, ocular damage and ipsilateral malformations of the central nervous system. First described by Haberland and Perou in 1970, only about 40 cases have been reported to date. The differential diagnoses with other neurocutaneous mosaicisms such as Delleman, Goltz, Goldenhar or Proteus syndrome may entail some degree of difficulty due to overlapping features. We report a case of Haberland syndrome in a neonate with bilateral ocular damage, illustrating the wide heterogeneity of this syndrome.
Subject(s)
Lipomatosis/diagnosis , Neurocutaneous Syndromes/diagnosis , Diagnosis, Differential , Eye Abnormalities , Humans , Infant, Newborn , MaleABSTRACT
La lipomatosis encefalocraneocutánea o síndrome de Haberland es una forma muy poco frecuente de síndrome neurocutáneo. Clínicamente se caracteriza por hamartomas lipomatosos en cara y cuero cabelludo, afectación ocular y malformaciones del sistema nervioso central ipsolaterales. Descrito por primera vez por Haberland y Perou en 1970, existen hasta la fecha unos 40 casos descritos. El diagnóstico diferencial con otros mosaicismos neurocutáneos como los síndromes de Delleman, Goltz, Goldenhar o Proteus puede llegar a ser muy dificultoso debido a la gran superposición que existe entre ellos. Presentamos el caso de un neonato con síndrome de Haberland con afectación ocular bilateral, mostrando la gran heterogeneidad clínica de este cuadro
Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is an unusual form of neurocutaneous syndrome. Clinically, this syndrome is characterized by unilateral lipomatous hamartomas on the scalp and face, ocular damage and ipsilateral malformations of the central nervous system. First described by Haberland and Perou in 1970, only about 40 cases have been reported to date. The differential diagnoses with other neurocutaneous mosaicisms such as Delleman, Goltz, Goldenhar or Proteus syndrome may entail some degree of difficulty due to overlapping features. We report a case of Haberland syndrome in a neonate with bilateral ocular damage, illustrating the wide heterogeneity of this syndrome
