Budd-Chiari syndrome with hepatopulmonary syndrome: a case report and literature review / 中华儿科杂志

Objective: To summarize the clinical features and prognosis of Budd-Chiari syndrome with hepatopulmonary syndrome (HPS) in children. Methods: The clinical data of a child who had Budd-Chiari syndrome with HPS treated at the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University in December 2016 was analyzed retrospectively. Taking "Budd-Chiari syndrome" and "hepatopulmonary syndrome" in Chinese or English as the keywords, literature was searched at CNKI, Wanfang, China Biomedical Literature Database and PubMed up to July 2023. Combined with this case, the clinical characteristics, diagnosis, treatment and prognosis of Budd-Chiari syndrome with HPS in children under the age of 18 were summarized. Results: A 13-year-old boy, presented with cyanosis and chest tightness after activities for 6 months, and yellow staining of the skin for 1 week. Physical examination at admission not only found mild yellow staining of the skin and sclera, but also found cyanosis of the lips, periocular skin, and extremities. Laboratory examination showed abnormal liver function with total bilirubin 53 μmol/L, direct bilirubin 14 μmol/L, and indirect bilirubin 39 μmol/L, and abnormal blood gas analysis with the partial pressure of oxygen of 54 mmHg (1 mmHg=0.133 kPa), the partial pressure of carbon dioxide of 31 mmHg, and the alveolar-arterial oxygen gradient of 57 mmHg. Hepatic vein-type Budd-Chiari syndrome, cirrhosis, and portal hypertension were indicated by abdominal CT venography. Contrast-enhanced transthoracic echocardiography (CE-TTE) was positive. After symptomatic and supportive treatment, this patient was discharged and received oxygen therapy outside the hospital. At follow-up until March 2023, there was no significant improvement in hypoxemia, accompanied by limited daily activities. Based on the literature, there were 3 reports in English while none in Chinese, 3 cases were reported. Among a total of 4 children, the chief complaints were dyspnea, cyanosis, or hypoxemia in 3 cases, and unknown in 1 case. There were 2 cases diagnosed with Budd-Chiari syndrome with HPS at the same time due to respiratory symptoms, and 2 cases developed HPS 1.5 years and 8.0 years after the diagnosis of Budd-Chiari syndrome respectively. CE-TTE was positive in 2 cases and pulmonary perfusion imaging was positive in 2 cases. Liver transplantation was performed in 2 cases and their respiratory function recovered well; 1 case received oxygen therapy, with no improvement in hypoxemia; 1 case was waiting for liver transplantation. Conclusions: The onset of Budd-Chiari syndrome with HPS is insidious. The most common clinical manifestations are dyspnea and cyanosis. It can reduce misdiagnosis to confirm intrapulmonary vascular dilatations with CE-TTE at an early stage. Liver transplantation is helpful in improving the prognosis.

Causa inusual de cianosis en el recién nacido: hemoglobina M / Unusual cause of cyanosis in the newborn: hemoglobin M

Resumen La hemoglobina M es un desorden hereditario infrecuente, causante de metahemoglobinemia y, por ende, cianosis. Las manifestaciones clínicas de esta enfermedad son amplias y variadas, por lo que se debe considerar como diagnóstico diferencial en un recién nacido con cianosis sin otra causa aparente. A continuación, se presenta el caso de un recién nacido de 5 horas de vida con cianosis generalizada desde el nacimiento y con saturaciones de oxígeno de entre 60-70%, en el que se descartaron patologías como hipoxia perinatal, patología pulmonar o cardíaca y sepsis y se documentó un nivel de metahemoglobina elevado, reportado en 21,6%, con lo cual se estableció el diagnóstico de metahemoglobinemia. El tratamiento administrado fueron dos dosis de azul de metileno, pero no hubo respuesta clínica. Por este motivo, se realizó electroforesis de hemoglobina, la cual fue compatible con hemoglobina M (Iwate o Kankakee), lo que se confirma su causa congénita de metahemoglobinemia.

Abstract Hemoglobin M is a rare hereditary disorder that causes ethemoglobinemia and therefore cyanosis. The clinical manifestations of this condition differs considerably, so it should be considered as a differential diagnosis in a newborn with cyanosis, with no other apparent cause. The case of a 5 hours old newborn is presented below, with generalized cyanosis from birth with oxygen saturations between 60-70%, in whom, upon ruling out pathologies such as perinatal hypoxia, pulmonary disease, heart disease and sepsis, a high level of methemoglobin is documented, reported in 21,6%; the diagnosis of methemoglobinemia was established. The treatment administered was two doses of methylene blue with no response. For this reason, hemoglobin electrophoresis was performed, which was compatible with Hemoglobin M (Iwate or Kankakee), confirming its congenital cause.

Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report / 中国当代儿科杂志

A full-term female infant was admitted at 5 hours after birth due to heart malformations found during the fetal period and cyanosis once after birth. Mmultiple malformations of eyes, face, limbs, and heart were noted. The whole-exome sequencing revealed a pathogenic heterozygous mutation, c.2428C>T(p.Arg810*), in the BCOR gene. The infant was then diagnosed with oculo-facio-cardio-dental syndrome. He received assisted ventilation to improve oxygenation and nutritional support during hospitalization. Right ventricular double outlet correction was performed 1 month after birth. Ocular lesions were followed up and scheduled for elective surgery. The possibility of oculo-facio-cardio-dental syndrome should be considered for neonates with multiple malformations of eyes, face, and heart, and genetic testing should be performed as early as possible to confirm the diagnosis; meanwhile, active ophthalmic and cardiovascular symptomatic treatment should be given to improve the prognosis.

A family with early onset myopathy caused by MEGF10 gene defect and literature review / 中华儿科杂志

Objective: To summarize the genetic and clinical phenotypic characteristics of patients with early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) caused by multiple epidermal growth factor 10 (MEGF10) gene defect. Methods: The clinical data of 3 infants in 1 family with EMARDD caused by MEGF10 gene defect diagnosed in the Department of Neonatology, Xiamen Children's Hospital in April 2022 were analyzed retrospectively. Using "multiple epidermal growth factor 10" "myopathy" or "MEGF10" "myopathy" as the key words, and searching the relevant literature reports of CNKI, Wanfang Database and PubMed Database from the establishment of the database to September 2022. Combined with this family, the main clinical information and genotype characteristics of EMARDD patients caused by MEGF10 gene defect were summarized. Results: The proband, male, first infant of monozygotic twins, was admitted to hospital 7 days after birth "due to intermittent cyanosis with weak sucking". The infant had dysphagia accompanied with cyanosis of lips during feeding and crying after birth. Physical examination on admission revealed reduced muscle tone of the extremities, flexion of the second to fifth fingers of both hands with limited passive extension of proximal interphalangeal joints, and limited abduction of both hips. He was diagnosed as dysphagia of newborn, congenital dactyly. After admission, he was given limb and oral rehabilitation training, breathing gradually became stable and oral feeding fully allowed, and discharged along with improvement. The younger brother of the proband was admitted to the hospital at the same time, and his clinical manifestations, diagnosis and treatment process were the same as those of the proband. The elder brother of the proband died at the age of 8 months due to the delayed growth and development, severe malnutrition, hypotonia, single palmoclal crease and weak crying. A whole exon sequencing of the family was done, and found that the 3 children were all compound heterozygous variations at the same site of MEGF10 gene, with 2 splicing variants (c.218+1G>A, c.2362+1G>A), which came from the father and mother respectively, and the new variation was consistent with the autosomal recessive inheritance model. Three children were finally diagnosed as EMARDD caused by MEGF10 gene defect. There are 0 Chinese literature and 18 English literature that met the search conditions. Totally 17 families including 28 patients were reported. There were 31 EMARDD patients including 3 infants from this family. Among them, there were 13 males and 18 females. The reported age of onset ranged from 0 to 61 years. Except for 5 patients with incomplete clinical data, 26 patients were included in the analysis of phenotypic and genotypic characteristics. The clinical features were mainly dyspnea (25 cases), scoliosis (22 cases), feeding difficulties (21 cases), myasthenia (20 cases), and other features including areflexia (16 cases) and cleft palate or high palatal arch(15 cases). Muscle biopsy showed non-specific changes, with histological characteristics ranging from slight muscle fiber size variation to minicores change which was seen in all 5 patients with at least 1 missense mutation of allele. In addition, the adult onset was found in patients with at least 1 missense variant of MEGF10 gene. Conclusions: MEGF10 gene defect related EMARDD can occur in the neonatal period, and the main clinical features are muscle weakness, breathing and feeding difficulties. Patients with myopathy who have at least 1 missense mutation and muscle biopsy indicating minicores change may be relatively mild.

Sulfohemoglobinemia secundaria a zopiclona. Casos clínicos / Sulfhemoglobinemia secondary to the use of zopiclone. Report of two cases

Sulfhemoglobin (SulfHb) is formed by hemoglobin (Hb) oxidation by sulfur compounds. Sulfhemoglobinemia is mainly associated with drugs or intestinal bacterial overgrowth. Patients present with central cyanosis, an abnormal pulse oximetry and normal arterial oxygen partial pressure. These features are shared with methemoglobinemia (MetHb) whose diagnosis requires an arterial co-oximetry. Depending on the device used, SulfHb may produce interference with this technique. We report two females aged 31 and 43 years, consulting at the emergency room with cyanosis. Both had a history of acute and chronic, high dose zopiclone ingestion. Pulse oximetry showed desaturation but with normal arterial oxygen partial pressure. Cardiac and pulmonary diseases were ruled out. Co-oximetry in two different analyzers showed interference or normal MetHb percentages. No other complications ensued, and cyanosis decreased over days. Since MetHb was discarded among other causes of cyanosis in a compatible clinical context, the diagnosis of sulfhemoglobinemia was made. The confirmatory method is not available in Chile. The presence of SulfHb is difficult to diagnose, confirmatory tests are not readily available, and it frequently interferes with arterial co-oximetry. This is attributed to a similar absorbance peak of both pigments in arterial blood. Venous co-oximetry can be useful in this context. SulfHb is a self-limited condition in most cases, however it must be differentiated from methemoglobinemia to avoid inappropriate treatments like methylene blue.

Causas de estridor congénito / Causes of congenital stridor

INTRODUCTION. Airway abnormalities are rare but potentially fatal. Stridor is a res-piratory noise with greater predominance in the inspiratory phase. OBJECTIVE. To evaluate the etiology of stridor, determine its comorbidities and mortality. MATERIALS AND METHODS. Retrospective cross-sectional study. Population of 110 and sample of 33 data from the Medical Records of neonatal or infant patients who presented stri-dor at the Carlos Andrade Marín Specialties Hospital of Quito-Ecuador, from january 2009 to december 2020. RESULTS. The 51,51% (17; 33) of cases were men. The age of the first consultation for stridor was within the first month in 18,00% (6; 33) and 40,00% (13; 33) at 3 months. The most frequent congenital laryngeal patholo-gy was: laryngomalacia 81,82% (27; 33), followed by subglottic stenosis 9,09% (3; 33), bilateral chordal paralysis 6,06% (2; 33) and tracheal stenosis 3,03% (1; 33). The 51,51% (17; 33) presented comorbidities of causes: neurological, pulmonary and genetic among the main ones. Mortality was 18,20% (6; 33) related to the severity of comorbidities, except one secondary to tracheal stenosis. CONCLUSION. Laryn-gomalacia and subglottic stenosis were the predominant pathologies with congenital stridor. The comorbidities that occurred were neurological, pulmonary, genetic and caused mortality within 90 days after diagnosis.

INTRODUCCIÓN. Las anomalías de la vía aérea son poco frecuentes, pero potencialmente mortales. El estridor es un ruido respiratorio con mayor predominio en la fase inspiratoria. OBJETIVO. Evaluar la etiología del estridor, determinar sus comorbilidades y la mortalidad. MATERIALES Y MÉTODOS. Estudio transversal retrospectivo. Población de 110 y muestra de 33 datos de Historias Clínicas de pacientes neonatos o lactantes que presentaron estridor en el Hospital de Especialidades Carlos Andrade Marín de Quito - Ecuador, de enero 2009 a diciembre 2020. RESULTADOS. El 51,51% (17; 33) de casos fueron hombres. La edad de la primera consulta por estridor fue dentro del primer mes en el 18,00% (6; 33) y del 40,00% (13; 33) a los 3 meses. La patología congénita laríngea más frecuente fue: laringomalacia 81,82% (27; 33), seguida de estenosis subglótica 9,09% (3; 33), parálisis cordal bila-teral 6,06% (2; 33) y estenosis traqueal 3,03% (1; 33). El 51,51% (17; 33) presentaron comorbilidades de causas: neurológica, pulmonar y genética entre las principales. La mortalidad fue 18,20% (6; 33) relacionada con la severidad de las comorbilidades, excepto una secundaria a estenosis traqueal. CONCLUSIÓN. La laringomalacia y la estenosis subglótica fueron las patologías que predominaron con estridor congénito. Las comorbilidades que se presentaron fueron neurológica, pulmonar, genética y causaron mortalidad dentro de los 90 días posteriores al diagnóstico.

Caracterización de estenosis traqueal por intubación prolongada en pacientes adultos / Characterization of tracheal stenosis by prolonged Intubation in adult patients

La estenosis traqueal es la disminución del calibre de la luz laríngea y traqueal como resultado de la maduración de tejido cicatrizal por lesión isquémica que el balón del tubo endotraqueal produce sobre las mucosas de la pared laringo traqueal cuando es insuflada por encima de la presión capilar (20-30 mm Hg) por un periodo incluso corto. La Asociación Americana de Cuidados Respiratorios recomienda que se utilice intubación para aquellos pacientes que ameriten ventilación mecánica por 7-10 días o menos y traqueostomía para aquellos pacientes que necesitan ventilación por más tiempo. Objetivo: Caracterizar la estenosis traqueal por intubación prolongada. Metodología: Se realizó un estudio descriptivo, retrospectivo que incluyó pacientes adultos con diagnóstico de estenosis traqueal por intubación mayor de 7 días en el Hospital General San Juan de Dios durante enero 2016 a diciembre 2019. Se evaluaron los datos epidemiológicos, clínicos, diagnóstico y terapéuticos en los registros clínicos de los servicios de cirugía torácica, otorrinolaringología y neumología. Resultados: Se evaluaron 52 pacientes adultos con intubación traqueal prolongada que desarrollaron estenosis traqueal. La mayoría son hombres jóvenes con mediana de intubación de dos semanas, la indicación de intubación más frecuente fue por trauma craneoencefálico severo. La forma de diagnóstico más frecuente fue clínico seguido por radiografía y tomografía teniendo en su mayoría estenosis tipo I y II. La mayoría de los pacientes con estenosis traqueal son tratados de manera quirúrgica, comúnmente con traqueostomía, dos semanas después del primer día de intubación. La única variable asociada al tipo de tratamiento fue que se le realizara al paciente una traqueotomía, la cual fue la forma de tratamiento quirúrgico de la mayoría de los pacientes para la corrección de la estrechez traqueal (p=0.01). Conclusiones: el tiempo de intubación endotraqueal es determinante para el desarrollo de la estenosis traqueal. En este estudio se documentaron 52 pacientes que recibieron intubación traqueal prolongada y desarrollaron estenosis traqueal tras una mediana de intubación de dos semanas, lo cual deberá hacernos reflexionar sobre las prácticas y guías para implementar la realización de traqueostomías tempranas en pacientes ventilados después de 7 días (AU)

Tracheal stenosis is the decrease in the caliber of the laryngeal and tracheal lumen as a result of the maturation of scar tissue due to ischemic injury that the balloon of the endotracheal tube produces on the mucosa of the laryngo-tracheal wall when it is insufflated above capillary pressure (20-30 mm Hg) for an even short period. The American Association for Respiratory Care recommends that intubation be used for those patients who require mechanical ventilation for 7-10 days or less and tracheostomy for those patients who require ventilation for longer. Objective: To characterize tracheal stenosis due to prolonged intubation. Methodology: A descriptive, retrospective study was carried out that included adult patients with a diagnosis of tracheal stenosis due to intubation greater than 7 days at the San Juan de Dios General Hospital from january 2016 to december 2019. Epidemiological, clinical, diagnostic and therapeutic data were evaluated in the clinical records of the thoracic surgery, otorhinolaryngology and pulmonology services. Results: 52 adult patients with prolonged tracheal intubation who developed tracheal stenosis were evaluated. Most are young men with a median intubation of two weeks, the most frequent indication for intubation was for severe head trauma. The most frequent form of diagnosis was clinical followed by radiography and tomography, mostly type I and II stenosis. Most patients with tracheal stenosis are treated surgically, commonly with a tracheostomy, two weeks after the first day of intubation. The only variable associated with the type of treatment was that the patient underwent a tracheostomy, which was the form of surgical treatment for most patients to correct the tracheal narrowing (p = 0.01). Conclusions: endotracheal intubation time is decisive for the development of tracheal stenosis. In this study, 52 patients who received prolonged tracheal intubation and developed tracheal stenosis after a median intubation of two weeks were documented, which should make us reflect on the practices and guidelines for implementing early tracheostomies in patients ventilated after 7 days

Pólipo piloso nasofaríngeo en un recién nacido con obstrucción intermitente de la vía aérea. Presentación de un caso / Nasopharyngeal hairy polyp in a newborn with intermittent airway obstruction. Case report

Los pólipos pilosos nasofaríngeos son tumores benignos poco frecuentes. Se presenta el caso de esta patología en una paciente recién nacida, quien presentó cianosis y dificultad respiratoria por obstrucción de la vía aérea superior, durante las primeras 24 horas de vida. La paciente requirió maniobras de reanimación e intubación endotraqueal. Estudios diagnósticos confirmaron la presencia de una masa en la pared lateral de la faringe. Se realizó la extirpación quirúrgica exitosa con evolución satisfactoria de la paciente

Nasopharyngeal hairy polyps are rare benign tumors. We present a newborn case with a hairy polyp mass causing cyanosis and respiratory distress due to obstruction of the upper airway during the first 24 hours of life. The patient required resuscitation and endotracheal intubation. Diagnostic studies confirmed the presence of a mass in the lateral pharyngeal wall. Surgical treatment and removal of the mass was performed with satisfactory evolution of the patient

Metahemoglobinemia secundaria a inhalación de "poppers": caso clínico y revisión de la literatura / Methemoglobinemia secondary to amyl nitrite inhalation. A case report and literature review

El nitrito de amilo, conocida como "poppers", se ha masificado como droga recreacional en parte por sus efectos con objetivos sexuales. Su consumo se asocia a complicaciones psiquiátricas y médicas. Reportamos el caso de un paciente que se presenta con metahemog-lobinemia moderada secundaria a la inhalación de nitrito de amilo asociado a alcohol. Al ingreso presenta cianosis peribucal y en extremidades, disociación entre oximetría de pulso y presión parcial de oxígeno en gases arteriales, además de metahemoglobinemia 29,9%. Se descartan otras intoxicaciones y causas primarias de metahemoglobinemia. Se maneja con oxigenoterapia, hidratación y ácido ascórbico, presentando una evolución favorable. Presentamos el primer caso en Chile de metahemoglobinemia secundaria al consumo de nitrito de amilo con fines recreativos.

Amyl nitrite, known as "poppers", has become popular as a recreational drug for sexual purposes. Its consumption is associated with psychiatric and medical complications. We report the case of a patient presenting with moderate methemoglobinemia secondary to amyl nitrite inhalation associated with alcohol. At admission, perioral and extremities cyanosis, a dissociation between pulse oximetry and partial pressure of oxygen in arterial gases, and methemoglobinemia 29.9% were present. Other intoxications and primary causes of methemoglobinemia were ruled out. The patient receives oxygen therapy, hydration, and ascorbic acid, presenting a favorable evolution. We report the first Chilean's case of methemoglobinemia secondary to amyl nitrite consumption for recreational purposes

Anesthetic management for patient with severe cyanosis following bioprosthetic valve stenosis / Manejo anestésico de paciente com cianose grave após estenose de valva bioprotética

Abstract We presented a 39-year-old female patient with life-threatening hypoxemia after tricuspid valve replacement because of Ebstein's anomaly. And the severe cyanosis is due to bioprosthetic valve stenosis and atrial septal defect. Anesthetic management of a patient with severe obstructive prosthetic valve dysfunction can be challenging. Similar considerations should be given to patients with Ebstein's anomaly to maintain the pressure equalized between the right and left atrial. Transesophageal echocardiography and cerebral oxygen saturation provided real time information in perioperative care.

Resumo Apresentamos o caso de uma paciente de 39 anos, com hipoxemia em risco de vida após a substituição da valva tricúspide devido à anomalia de Ebstein e cianose grave devido à estenose de valva bioprotética e comunicação interatrial. O manejo anestésico de um paciente com disfunção obstrutiva grave de prótese valvar pode ser um desafio. Os pacientes com anomalia de Ebstein também precisam de atenção especial para manter a pressão equalizada entre o átrio direito e o esquerdo. A ecocardiografia transesofágica e a saturação cerebral de oxigênio forneceram informações em tempo real nos cuidados perioperatórios.

Hemodynamic, metabolic and ventilatory responses to exercise in adults with congenital heart disease / Respostas hemodinâmicas, metabólicas e ventilatórias ao exercício em adultos com cardiopatia congênita

Background: Congenital heart disease in adults shares some features with heart failure (HF), including exercise intolerance, ventilatory inefficiency, inflammatory and neurohormonal activation, cardiac arrhythmias and myocardial fibrosis. Over the last years, cardiopulmonary exercise test has gained importance in the diagnostic and prognostic evaluation of congenital heart diseases, as has already occurred in HF. Objective: To describe the behavior of hemodynamic, metabolic and ventilatory parameters in response to exercise in adults with congenital heart disease. Methods: Observational cross-sectional study evaluating 31 adults with congenital acyanotic or cyanotic heart disease, treated clinically, surgically or percutaneously, referred for cardiopulmonary exercise test. A descriptive analysis of the data was performed. Results: Patients aged 35.7 ± 14.2 years were included. Oxygen consumption (VO2) was 44.86 ± 18.01% of predicted at peak exercise and 36.92 ± 12.93% of predicted maximal VO2 at anaerobic threshold. We found an oxygen uptake efficiency slope (OUES) of 1.49 ± 0.89 (61.43 ± 26.63% of predicted), oxygen pulse of 58.90 ± 22.24% and increment in systolic arterial pressure during exercise was 31.42 ± 21.60 mmHg. Conclusion: Adults with congenital heart disease had similar responses to heart failure patients during exercise ­ reduced aerobic capacity, ventilatory inefficiency for oxygen consumption and limited inotropic response to exercise, characterized by reduced oxygen pulse and small increase in systolic arterial pressure

Effect of sodium acetate Ringer injection on perioperative fluid therapy in children with cyanotic congenital heart disease / 中华危重病急救医学

OBJECTIVE@#To evaluate the efficacy of volume therapy with sodium acetate Ringer solution during the perioperative period in children with cyanotic congenital heart disease (CHD).@*METHODS@#The children who underwent elective surgery for cyanotic CHD admitted to Shanghai Children's Medical Center Affiliated to the Medical School of Shanghai Jiaotong University from September to December 2018 were divided into three groups according to random number table with the informed consent of their legal representatives. All of the children received volume therapy with infusion of sodium acetate Ringer solution intravenously upon anesthesia induction. The volume of infusion was calculated according to the "4-2-1" formula (group A, the rehydration volume was 4 mL×kg-1×h-1 for the first 10 kg body weight, 2 mL×kg-1×h-1 for the second 10 kg, and 1 mL×kg-1×h-1 for the third 10 kg and above), and the volume was increased by 50% or 100% in groups B and C, respectively. The intravenous infusion lasted for 30 minutes in all the three groups. Arterial blood gas analysis was performed before and 30 minutes after infusion to observe the acid-base status and electrolyte level. Pulse oxygen saturation (SpO2), heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP) before and 10, 20, 30 minutes after infusion, central venous pressure (CVP) at 30 minutes after infusion were recorded, as well as adverse events occurred after infusion.@*RESULTS@#Twenty-six children with cyanotic CHD, 17 male and 9 female, aged from 1 to 36 months, body weight 3.6 to 16.0 kg, and America Society of Anesthesiologists (ASA) level of III or IV, were enrolled in the study. The pH value in group B at 30 minutes after infusion was significantly higher than that before infusion (7.35±0.05 vs. 7.32±0.06, P < 0.05), while no significant changes were found before and after infusion in the other two groups. The hematocrits (Hct) after infusion in three groups were significantly lower than those before infusion (0.433±0.141 vs. 0.473±0.146 in group A, 0.324±0.054 vs. 0.372±0.063 in group B, 0.363±0.097 vs. 0.418±0.111 in group C, all P < 0.01), indicating that all the children in the three groups achieved effective hemodilution. However, there was no significant difference in blood gas analysis before and after infusion among the three groups. The level of blood lactic acid (Lac) in all CHD children was decreased from (1.33±0.63) mmol/L to (0.98±0.36) mmol/L after infusion of sodium acetate Ringer solution, the serum Ca2+ concentration was decreased from (1.22±0.06) mmol/L to (1.19±0.06) mmol/L, and the serum Cl- concentration was increased from (108.74±2.70) mmol/L to (109.77±2.54) mmol/L with the statistically significant differences (all P < 0.01). However, no significant difference was found in Lac or electrolyte levels before and after infusion among the three groups. There was no significant difference in vital signs before and after infusion among the three groups, but the period of infusion had an effect on SpO2 (F = 5.998, P < 0.01), HR (F = 34.279, P < 0.01) and SBP (F = 4.345, P < 0.05). HR in groups A and C were significantly lower than those before infusion, and SBP in group A was decreased gradually with the prolongation of infusion time. The CVP value at 30 minutes after infusion in group B was higher than that in group A. No adverse reactions such as rash or anaphylactic shock occurred after infusion of sodium acetate Ringer solution in all children.@*CONCLUSIONS@#The perioperative volume therapy with sodium acetate Ringer solution in children with cyanotic CHD can effectively prevent the increase in Lac level and does not aggravate metabolic acidosis. The volume of infusion was well tolerated by all the children without disturbing the hemodynamic parameters.

A Missed and Delayed Detected Fish Bone Impaction in Subglottis / 대한이비인후과학회지

Laryngeal foreign body can be a life-threatening emergency. Respiratory distress, aphonia, and cyanosis may occur in quick succession. However, in case of a non-obstructive laryngeal foreign body, symptoms can be indolent, but the hazardous foreign body can nevertheless put the patient in danger. To prevent life-threatening consequences, early detection based on symptoms is imperative. This case, which presented with usual symptoms of anterior neck pain and throat discomfort without respiratory symptoms and an unusual site of laryngeal foreign body, finally turned out to be an impacted fish bone in the subglottis.

A Case of Congenital Nasal Pyriform Aperture Stenosis

Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center / 소아과

PURPOSE: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. METHODS: The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. RESULTS: Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. CONCLUSION: As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.

A Diagnostic Roadmap for Raynaud's Phenomenon / 대한내과학회지

Raynaud's phenomenon (RP) is a reversible vasospasm that is aggravated by cold or emotional stress. Before confirming RP, it is essential to consider other possible causes including compressive neuropathy, sensori-neuropathy, thyroid disease, hematologic conditions and offending drugs. RP is typically characterized by the three-step color change that turns pallor (white), cyanosis (blue), and then erythema (red) of reperfusion. Once RP is diagnosed, it is important to determine whether it is primary or secondary RP. To distinguish primary from the secondary RP, the specialized tests performing in clinical practice are antinuclear antibody (ANA) and nailfold capillary microscopy (NFC). The combination of ANA and NFC is most helpful for discriminating secondary RP due to autoimmune rheumatic disease. Thereby, normal findings of NFC in primary RP distinguished from secondary RP should be understood. Patients with primary RP usually improves with symptomatic treatment focused on lifestyle modification and patient education, but those with secondary RP should be treated together with associated disease or causes.

Metahemoglobinemia inducida por dapsona: presentación de un caso pediátrico / Methemoglobinemia due to Dapsone: a pediatric case report

La metahemoglobinemia es una patología caracterizada por la presencia de altas concentraciones de metahemoglobina en sangre. Esta es una forma oxidada de la hemoglobina, muy afín al oxígeno, que es incapaz de cederlo a los tejidos. Es una entidad poco frecuente, con baja sospecha diagnóstica. Aunque puede ser congénita en recién nacidos con cianosis, es más frecuente la adquirida por fármacos y tóxicos. En la Argentina, no se conoce la incidencia real de esta patología. El objetivo es comunicar un caso de metahemoglobinemia en una paciente pediátrica que ingresó al Hospital Magdalena V. de Martínez con cianosis en la cara y las extremidades, en mal estado general, con el antecedente de ingesta de varios comprimidos de dapsona, y se constató concentración sérica de metahemoglobina del 35%. El tratamiento consistió en la administración endovenosa de azul de metileno. Su evolución fue favorable.

Methemoglobinemia is a condition characterized by a high blood concentration of methemoglobin. Methemoglobinemia is a disorder that occurs when hemoglobin in the blood is oxidized to form methemoglobin, rendering it unable to transport oxygen. Although it can be congenital in cyanotic newborn, it is more often an adverse medication effect. The aim is to report a pediatric methemoglobinemia case, assisted in Magdalena V. de Martínez Hospital, with cyanosis in face and limb, in poor condition, that consumed dapsone accidentally. Her methemoglobin concentration was 35%. Intravenous methylene blue was administered with favorable outcome.

Cianosis en un paciente de 14 años: Presentación de un caso de metahemoglobinemia / Cyanosis in 14-year-old patient: Methemoglobinemia: case report

La cianosis es la coloración azulada de la piel y las mucosas debida al aumento de la concentración de hemoglobina reducida en los capilares o a la presencia de metahemoglobina en concentraciones mayores de las normales. Es importante pensar en metahemoglobinemia como diagnóstico diferencial frente a un paciente con cianosis que no responde a la administración de oxígeno cuando no existen causas cardiorrespiratorias que la justifiquen, dado que requiere de otros métodos diagnósticos y de tratamiento específico. Se presenta el caso de un paciente adolescente de 14 años de edad con cianosis secundaria a metahemoglobinemia de probable etiología congénita. Se discuten las causas, forma de presentación, diagnóstico y tratamiento.

The bluish coloration of skin and mucous membranes, called as cyanosis, could be explained by high reduced hemoglobin in the capillaries, or the presence of elevated methemoglobin concentration. It is important to think of methemoglobinemia as a differential diagnosis in a cyanotic patient who does not respond to oxygen administration once cardiorespiratory causes are discarded; since it requires other diagnostic methods and specific treatment. We described a case of cyanosis in a fourteen-year-old adolescent with probable congenital methemoglobinemia. We discussed their probable causes, clinic presentation, diagnosis and treatment.

Malformación de Abernethy: causa inusual de cianosis central en pediatría / Abernethy malformation: unusual cause of central cyanosis in pediatrics

El shunt porto sistémico congénito es una causa rara de hipoxemia y una patología muy poco frecuente con complicaciones severas si no es tratada. Fue descrito por primera vez por John Abernethy en 1793. Existen dos tipos: tipo I (shunt termino lateral) en el que hay ausencia total del flujo portal intrahepático y tipo II (shunt latero lateral) con flujo portal parcialmente conservado. Se presenta el caso de una niña de 6 años de edad con antecedente de hipoxemia crónica desde los 4 años y medio de vida, acompañado de disnea progresiva, quien fue referida a la unidad de neumología pediátrica con diagnóstico de cianosis central. Entre los estudios diagnósticos considerados se realizó ecografía doppler del sistema venoso portal, evidenciándose ausencia de vena porta principal; además se realizó angiotomografía del sistema arterio-venoso portal y mesentérico, confirmándose la agenesia de vena porta. Se completó el estudio con una porto-esplenografía que confirmó el diagnóstico de malformación de Abernethy tipo I b. La malformación de Abernethy tipo I es más frecuente en el sexo femenino, tiene varias formas de presentación y el tratamiento es el trasplante hepático. En la malformación de Abernethy tipo II la circulación portal es variable y tiene mejor pronóstico que la de tipo I. La disnea al ejercicio y la cianosis central es una forma de presentación que debemos tener en cuenta en el diagnóstico diferencial de la patología cardiorrespiratoria en la edad pediátrica.

The congenital portosystemic shunt is an uncommon disease with severe complications if not treated. This rare cause of hypoxemia was first described by John Abernethy in 1973. There are two types: type I (termino-lateral shunt), in which there is total absence of the intrahepatic portal flow, and type II (latero-lateral shunt), in which the portal flow is partially preserved. We present the case of a 6-year-old girl with chronic hypoxemia history since 4 and a half years of age, showing progressive dyspnea, who was referred to the Pediatric Pulmonary Division with the diagnosis of central cyanosis. An Echo-Doppler in the portal venous system was performed, reporting agenesis of the principal portal vein. This finding was corroborated by an angiography of the portal and mesenteric arteriovenous system. The study was completed with a portosplenography, which confirmed the diagnosis of type Ib Abernethy malformation. The type I Abernethy malformation is more common in females, shows up in different ways and is treated with liver transplantation. On the other hand, type II Abernethy malformation shows a variable portal circulation and has a better prognosis than type I. Dyspnea when exercising and central cyanosis should be considered to make a differential diagnosis of cardiorespiratory disease at a pediatric age.

Assessment of Potential Renal Dysfunction in Patients with Congenital Heart Disease after Biventricular Repair

BACKGROUND AND OBJECTIVES: There are few reports on renal dysfunction in the remote period after biventricular repair, and biomarkers for early detection of renal dysfunction are not well understood. We examined whether early fluctuation of biomarkers of renal function occurs in the remote period after biventricular repair in patients with congenital heart disease (CHD). METHODS: Fourteen patients with CHD after biventricular repair were included. The examination values obtained by cardiac catheterization test and renal function indices based on blood and urine sampling were compared. RESULTS: The median estimated glomerular filtration rate (eGFR) of creatinine was 113 mL/min/1.73 m2, and the median eGFR of cystatin C was 117 mL/min/1.73 m2. A urine albumin-to-creatinine ratio (UACR) ≥10 mg/gCr was considered a risk factor for cardiovascular disease in 6 (43%) patients. There was a significant difference in right ventricular ejection fraction and deviation in right ventricular end-diastolic volume from the normal value between the 2 groups divided by UACR. Cyanosis before biventricular repair was noted in 2 (25%) patients with UACR < 10 mg/gCr and in 4 (67%) patients with UACR ≥10 mg/gCr. CONCLUSIONS: Increased UACR was noted in 43% of patients. In patients with UACR ≥10 mg/gCr, right heart system abnormality was observed, and several patients had cyanosis before radical treatment. Measurement for UACR may be able to detect renal dysfunction early in the postoperative remote period.