[Neonatal bilateral ovarian cystadenoma: Conservative or surgical treatment?] / Cistoadenoma ovárico bilateral neonatal, ¿tratamiento conservador o quirúrgico?

INTRODUCTION: Bilateral complex ovarian cysts in newborns are rare and their reporting becomes imperative to in crease knowledge about the best therapeutic management. OBJECTIVE: To describe the clinical case of a newborn with a diagnosis of bilateral complex ovarian cysts and to discuss the conditions for conservative or surgical management according to the ultrasound characteristics of the cyst. CLINICAL CASE: At 35 weeks of gestational age, prenatal ultrasound identified the presence of cystic masses in both adnexa, so it was decided to interrupt the pregnancy by cesarean section at 37 weeks. After birth, bilateral ovarian cysts of 3.5 x 4.4 x 2.7 and 3.4 x 2.4 x 3.3 cm, right and left, respectively, were corro borated. The right cyst had a septum of 1.4 mm thick and thickened wall of 3 mm which was com patible with complex cysts. On the 4th day of extrauterine life, laparoscopic vacuum aspiration and deroofing with electrocautery of the upper wall of both cysts was performed, without complications. The diagnosis of ovarian serous cystadenoma was made by pathological anatomy. CONCLUSIONS: We describe a case with adequate prenatal diagnosis and laparoscopic surgical intervention of a bilateral ovarian cyst > 4 cm. Prenatal diagnosis is essential for choosing the best therapy management (con servative or surgical) depending on the echography characteristics of the cyst. Neonatal surgery is recommended for simple ovarian cysts >4 cm, complex cysts regardless of their size, and those that become complex cysts during conservative management.

Multiple Organ Failure Associated with SARS-CoV-2 Infection in a Child with Down Syndrome: Is Trisomy 21 Associated with an Unfavourable Clinical Course?

INTRODUCTION: Down syndrome (DS) is one of the most frequent genomic disorders around the globe (∼1:700 births). During the COVID-19 pandemic, it has been recognized that children with DS are patients with a greater risk of presenting SARS-CoV-2 infection-related poor outcomes. Nonetheless, a few cases with DS and SARS-CoV-2 infection have been reported. Our aim is to describe the unfavorable clinical course of a child with DS infected with SARS-CoV-2 virus. CASE: Female, 2 years old, karyotype 47,XX,+21[30], previously diagnosed with a cyanotic congenital heart disease (tricuspid atresia and infundibular pulmonary stenosis, type Ib) who started with diarrhea, developed shortness of breath, and cyanosis and was admitted to the hospital presenting low-oxygen saturation (33%) requiring invasive mechanical ventilation support. The patient tested positive for SARS-CoV-2 infection. During hospitalization, the patient presented hypotension, anuria, retarded capillary filling, and metabolic acidosis; management with vasoactive drugs was needed. Nonetheless, the patient developed respiratory and cardiac failure, acute renal injury (AKIN-III), and septic shock. After 24 days of hospitalization, the patient died. CONCLUSIONS: Multiple organ failure observed in the patient presented could be related to the triple gene dose of four interferon receptors (IFNAR1, IFNAR2, IFNGR2, and IL10RB) located at 21q22.11. Additionally, overexpression of TMPRSS2 at the pulmonary level, located also at 21q22.3, could be related with an increased susceptibility for the development of SARS-CoV-2 infection in DS patients.

[Multidisciplinary management with neuromuscular electrical stimulation therapy in a Goldenhar syndrome patient who presented swallowing disorder and failure to thrive.] / Manejo multidisciplinario con terapia de electroestimulación en un paciente con síndrome de Goldenhar, trastorno de la deglución y falla para crecer.

INTRODUCCIÓN: El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis craneofacial asociada al primero y segundo arcos faríngeos, y forma parte del espectro oculoauriculovertebral. La incidencia es de 1 por cada 3500-45,000 recién nacidos vivos, con una razón de sexo masculino/femenino de 3:2. CASO CLÍNICO: Se presenta el caso de un recién nacido con fenotipo de síndrome oculoauriculovertebral. Se abordó con radiografía de tórax, ecografía abdominal y tamizaje metabólico y auditivo, que reportaron hemivértebra torácica, fusión costal, quiste renal e hipoacusia bilateral profunda, respectivamente. Fue alimentado con lactancia mixta desde el nacimiento, sin lograr una succión adecuada y con pérdida de peso. A los 3 meses de edad recibió terapia de rehabilitación oral con electroestimulación en conjunto de 10 sesiones con 10 mA de intensidad, al igual que a los 23, 24, 25, 27, 30 y 32 meses de edad. A los 4 meses, espesamiento de fórmula con cereal; a los 7 meses, sonda de gastrostomía; a los 20 meses, cirugía de paladar y macrostomía. Mostró mejoría en intensidad de babeo en las primeras 10 sesiones y mejoría en la deglución a las 30 sesiones. A los 3 años de edad consume el 100% de los alimentos por vía oral. CONCLUSIONES: Con la escasa evidencia científica que este caso aislado aporta, el tratamiento con la terapia de rehabilitación en conjunto con la terapia convencional y la corrección anatómica dio resultados positivos para el trastorno de la deglución. BACKGROUND: Goldenhar syndrome is a heterogeneous disorder, mostly sporadic or due to a dominant autosomal or recessive pattern of inheritance, that exhibits craniofacial morphogenesis associated with the first and second pharyngeal arches and is part of the oculoauriculovertebral spectrum. Its incidence is of 1 in 3,500-45,000 live newborns, with a male to female ratio of 3:2. CASE REPORT: We describe the case of a male newborn with oculoauriculovertebral syndrome phenotype. It was approached with chest X-ray, abdominal ultrasound, metabolic and hearing screening, which reported thoracic hemivertebra, costal fusion, renal cyst, and profound bilateral hypoacusis, respectively. Although the newborn was fed with mixed lactation from birth, adequate suction and with weight loss were not achieved. At 3 months of age, as well as at 23, 24, 25, 27, 30 and 32 months of age, the infant received oral rehabilitation therapy with electrostimulation in a set of 10 sessions with 10 mA intensity. At 4 months, thickening of formula with cereal; at 7 months, gastrostomy tube; at 20 months, palate surgery and macrostomy. Improvement in drooling intensity was observed during the first 10 sessions, and improvement in swallowing after 30 sessions. At 3 years of age, the patient consumes 100% of food orally. CONCLUSIONS: According to limited scientific evidence that this isolated case provides, rehabilitation therapy together with conventional therapy coupled with anatomical correction gave positive results for swallowing disorder.

Manejo multidisciplinario con terapia de electroestimulación en un paciente con síndrome de Goldenhar, trastorno de la deglución y falla para crecer / Multidisciplinary management with neuromuscular electrical stimulation therapy in a Goldenhar syndrome patient who presented swallowing disorder and failure to thrive

Resumen Introducción: El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis craneofacial asociada al primero y segundo arcos faríngeos, y forma parte del espectro oculoauriculovertebral. La incidencia es de 1 por cada 3500-45,000 recién nacidos vivos, con una razón de sexo masculino/femenino de 3:2. Caso clínico: Se presenta el caso de un recién nacido con fenotipo de síndrome oculoauriculovertebral. Se abordó con radiografía de tórax, ecografía abdominal y tamizaje metabólico y auditivo, que reportaron hemivértebra torácica, fusión costal, quiste renal e hipoacusia bilateral profunda, respectivamente. Fue alimentado con lactancia mixta desde el nacimiento, sin lograr una succión adecuada y con pérdida de peso. A los 3 meses de edad recibió terapia de rehabilitación oral con electroestimulación en conjunto de 10 sesiones con 10 mA de intensidad, al igual que a los 23, 24, 25, 27, 30 y 32 meses de edad. A los 4 meses, espesamiento de fórmula con cereal; a los 7 meses, sonda de gastrostomía; a los 20 meses, cirugía de paladar y macrostomía. Mostró mejoría en intensidad de babeo en las primeras 10 sesiones y mejoría en la deglución a las 30 sesiones. A los 3 años de edad consume el 100% de los alimentos por vía oral. Conclusiones: Con la escasa evidencia científica que este caso aislado aporta, el tratamiento con la terapia de rehabilitación en conjunto con la terapia convencional y la corrección anatómica dio resultados positivos para el trastorno de la deglución.

Abstract Background: Goldenhar syndrome is a heterogeneous disorder, mostly sporadic or due to a dominant autosomal or recessive pattern of inheritance, that exhibits craniofacial morphogenesis associated with the first and second pharyngeal arches and is part of the oculoauriculovertebral spectrum. Its incidence is of 1 in 3,500-45,000 live newborns, with a male to female ratio of 3:2. Case report: We describe the case of a male newborn with oculoauriculovertebral syndrome phenotype. It was approached with chest X-ray, abdominal ultrasound, metabolic and hearing screening, which reported thoracic hemivertebra, costal fusion, renal cyst, and profound bilateral hypoacusis, respectively. Although the newborn was fed with mixed lactation from birth, adequate suction and with weight loss were not achieved. At 3 months of age, as well as at 23, 24, 25, 27, 30 and 32 months of age, the infant received oral rehabilitation therapy with electrostimulation in a set of 10 sessions with 10 mA intensity. At 4 months, thickening of formula with cereal; at 7 months, gastrostomy tube; at 20 months, palate surgery and macrostomy. Improvement in drooling intensity was observed during the first 10 sessions, and improvement in swallowing after 30 sessions. At 3 years of age, the patient consumes 100% of food orally. Conclusions: According to limited scientific evidence that this isolated case provides, rehabilitation therapy together with conventional therapy coupled with anatomical correction gave positive results for swallowing disorder.