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1.
Andes Pediatr ; 94(6): 729-735, 2023 Dec.
Article in Spanish | MEDLINE | ID: mdl-38329309

ABSTRACT

Pleuropulmonary blastoma (PPB) is the most common pediatric malignant primary lung tumor. It's associated with the DICER1 gene pathogenic germline variants. Antenatal presentation is infrequent and poses a challenge in the differential diagnosis of congenital pulmonary airway malformation (CPAM). OBJECTIVE: to report a case of unusual presentation of PPB associated with DICER1 syndrome and to describe the difficulty in differentiating it from CPAM. CLINICAL CASE: Male patient with prenatal diagnosis of hypervascular left lung lesion, with mediastinal shift and progressive growth, initially interpreted as CPAM. He was born at 38 weeks, requiring transitory treatment with positive pressure due to ventilatory impairment. A CT scan with contrast showed a large multilocular cystic mass containing air causing mass effect, requiring open left upper lobectomy. Histology results were compatible with type I PPB, with negative margins, and positive genetic study for DICER1 syndrome. Seven weeks post-resection, an aerial image was detected in the upper left side of the chest, with progressive growth, requiring a new tumor resection and upper segmentectomy, with biopsy corresponding to recurrence of type I PPB with negative margins. He received adjuvant treatment with chemotherapy, with follow-up for 2 years, remaining asymptomatic, without recurrence, and with negative screening for other neoplasms associated with DICER1 syndrome. Among the family history, the mother had papillary thyroid cancer and tested positive for the mutation. CONCLUSION: PPB is a rare cancer, difficult to distinguish from CPAM, especially in its antenatal presentation. Nowing its association with DICER1 syndrome and performing a genetic study are key to the early detection of BPP and the search for other tumors associated with the syndrome.


Subject(s)
Lung Neoplasms , Pulmonary Blastoma , Female , Humans , Male , Pregnancy , DEAD-box RNA Helicases/genetics , Diagnosis, Differential , Lung/diagnostic imaging , Lung Neoplasms/diagnosis , Lung Neoplasms/genetics , Ribonuclease III/genetics , Infant, Newborn
2.
3.
Rev Chil Pediatr ; 90(3): 321-327, 2019 Jun.
Article in Spanish | MEDLINE | ID: mdl-31344193

ABSTRACT

INTRODUCTION: Adrenal masses are uncommon in newborns. The differential diagnosis includes be nign masses (adrenal hemorrhage, extralobar pulmonary sequestration) and malignant ones (neuro blastoma) that may be a finding during an obstetric ultrasound. The use of complementary imaging methods allows a better diagnosis approach during the postnatal period, with implications for the management of these patients. OBJECTIVE: To report the case of a female newborn with diagnosis of an adrenal mass, and to discuss differential diagnoses and management alternatives of adrenal lesions in newborns. CASE REPORT: Two-month-old female infant, referred for adrenal tumor study diagnosed at 22 weeks gestational age. Postnatal ultrasound showed a tumor compatible with neuroblastoma. The patient was asymptomatic, and the laboratory studies showed no relevant findings. The lesion was excised by laparoscopy. A histological study confirmed pulmonary sequestration. CONCLUSIONS: Extralobar pulmonary sequestration should be considered in the differential diagnosis of an adrenal mass in the newborn. Minimally invasive surgery should be the preferred surgical technique choice in these cases, given the technical feasibility and benefits in the recovery and cosmetic issues of the patient.


Subject(s)
Adrenal Gland Neoplasms/diagnostic imaging , Bronchopulmonary Sequestration/diagnosis , Neuroblastoma/diagnostic imaging , Adrenal Gland Neoplasms/surgery , Diagnosis, Differential , Female , Humans , Infant , Infant, Newborn , Laparoscopy/methods , Minimally Invasive Surgical Procedures , Neuroblastoma/surgery , Pregnancy , Ultrasonography , Ultrasonography, Prenatal
4.
Rev. chil. pediatr ; 90(3): 321-327, jun. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1013840

ABSTRACT

Resumen: Introducción: Las masas suprarrenales en recién nacidos son infrecuentes. El diagnóstico diferen cial incluye masas benignas (hemorragia suprarrenal o secuestro pulmonar extralobar) y malignas (neuroblastoma), y pueden ser un hallazgo durante la ecografía obstétrica. El uso de imágenes com plementarias en el periodo postnatal permite una mejor aproximación diagnóstica, con implicancias en el manejo de estos pacientes. Objetivos: comunicar el caso de una recién nacida portadora de una masa suprarrenal, discutir los diagnósticos diferenciales y el manejo de lesiones suprarrenales en recién nacidos. Caso Clínico: Lactante de 2 meses de edad, derivada para estudio de tumor supra rrenal de diagnóstico antenatal a las 22 semanas de edad gestacional. El estudio imagenológico con ecografía postnatal mostró un tumor compatible con neuroblastoma. Paciente asintomática, estudios de laboratorios sin hallazgos relevantes. Se realizó resección laparoscópica de la lesión. El estudio histológico confirmó un secuestro pulmonar. Conclusión: El secuestro pulmonar extralobar debe ser considerado en el diagnóstico diferencial de una masa suprarenal del recién nacido. La cirugía mínimamente invasiva debiera considerarse como el abordaje de elección en casos como este, donde existe factibilidad técnica y beneficios en la recuperación y secuelas cosméticas del paciente.


Abstract: Introduction: Adrenal masses are uncommon in newborns. The differential diagnosis includes be nign masses (adrenal hemorrhage, extralobar pulmonary sequestration) and malignant ones (neuro blastoma) that may be a finding during an obstetric ultrasound. The use of complementary imaging methods allows a better diagnosis approach during the postnatal period, with implications for the management of these patients. Objective: To report the case of a female newborn with diagnosis of an adrenal mass, and to discuss differential diagnoses and management alternatives of adrenal lesions in newborns. Case report: Two-month-old female infant, referred for adrenal tumor study diagnosed at 22 weeks gestational age. Postnatal ultrasound showed a tumor compatible with neuroblastoma. The patient was asymptomatic, and the laboratory studies showed no relevant findings. The lesion was excised by laparoscopy. A histological study confirmed pulmonary sequestration. Conclusions: Extralobar pulmonary sequestration should be considered in the differential diagnosis of an adrenal mass in the newborn. Minimally invasive surgery should be the preferred surgical technique choice in these cases, given the technical feasibility and benefits in the recovery and cosmetic issues of the patient.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Infant , Bronchopulmonary Sequestration/diagnosis , Adrenal Gland Neoplasms/diagnostic imaging , Neuroblastoma/diagnostic imaging , Ultrasonography, Prenatal , Ultrasonography , Laparoscopy/methods , Adrenal Gland Neoplasms/surgery , Minimally Invasive Surgical Procedures , Diagnosis, Differential , Neuroblastoma/surgery
5.
Plast Reconstr Surg ; 113(6): 1556-62, 2004 May.
Article in English | MEDLINE | ID: mdl-15114114

ABSTRACT

Amniotic band syndrome has been proposed as a sequela of intrauterine rupture of the amnion, resulting in oligohydramnios and passage of the fetus into the chorionic cavity. Amnion disruption with loss of amniotic fluid, causing fetal compression and localized fetal ischemia, possibly results in a pathogenic mechanism of extremely variable malformations. The prominence of the nasal processes and the adjacent stomodeal orifice facilitates free band attachment and adherence, resulting in a spectrum of similarly oriented facial defects. The authors present six consecutive cases of amniotic band syndrome with cleft lip and palate (facial cleft 3, 5, 7, and 10, isolated or combined) that were associated with other craniofacial anomalies, such as craniosynostosis and hypertelorbitism. They also present limb malformations and discuss the proposed pathogenesis and the surgical challenges in functional and aesthetic restoration.


Subject(s)
Abnormalities, Multiple , Amniotic Band Syndrome/complications , Craniofacial Abnormalities/complications , Abnormalities, Multiple/pathology , Child , Child, Preschool , Cleft Lip/complications , Cleft Lip/pathology , Cleft Lip/surgery , Cleft Palate/complications , Cleft Palate/pathology , Cleft Palate/surgery , Craniofacial Abnormalities/pathology , Craniofacial Abnormalities/surgery , Female , Humans , Infant, Newborn , Male , Plastic Surgery Procedures
6.
Vet Hum Toxicol ; 44(1): 31-2, 2002 Feb.
Article in English | MEDLINE | ID: mdl-11824773

ABSTRACT

We present a retrospective analysis of plant and mushroom ingestions reported to the Toxicologic Information Center at the Catholic University of Chile. All the phone calls of plant and mushroom intoxications received from January 1998 through June 2000, were classified according to agent, clinical presentation, affected age group, origin of the phone call, and time from exposure to the toxic agent. Of 36,580 consultations received, 156 were intoxications with plants or mushrooms, and 53.9% of them affected children < 6years. Most patients were symptomatic at consultation, with digestive, neurologic, anticholinergic or cutaneous effects. The most frequent accidental ingestions were of elephant's ear (Colocasia sp) by children, causing digestive symptoms, and by intentional ingestions of black henbane (Hyoscyamus niger) by adolescents, causing anticholinergic symptoms; 5 cases of Amanitaphalloides wer ereported with 3 fatal due to fulminant hepatic damage. Plant and mushroom intoxications are an uncommon event, but can seriously compromise those that ingest them. Despite its low incidence, public and medical community education is essential to prevent and manage these intoxications efficiently.


Subject(s)
Mushroom Poisoning/epidemiology , Adolescent , Adult , Age Distribution , Child , Child, Preschool , Chile/epidemiology , Humans , Incidence , Infant , Mushroom Poisoning/physiopathology , Plant Poisoning/epidemiology , Plant Poisoning/physiopathology , Poison Control Centers/statistics & numerical data , Retrospective Studies
7.
Arq. bras. oftalmol ; 60(4): 343-7, ago. 1997. tab
Article in Portuguese | LILACS | ID: lil-207927

ABSTRACT

Objetivo: avaliar o estágio atual da cirurgia refrativa na América Latina. Material e método: questionário analisando aspectos demográficos de cada país, técnicas realizadas, custo de equipamentos e preços cobrados por serviços säo estudados. Também säo analisadas as sugestöes e críticas ao estado atual da cirurgia refrativa em diferentes regiöes. Os questionários foram respondidos pelos representantes da International Society of Refractive Surgery. A data de término da pesquisa foi de 30/03/97. Resultados: Duas centenas de Excimer Lasers funcionam na América Latina. Os preços dos serviços variam de 200 a 2200 USD com variaçöes regionais. Queixas como comportamento antiético, alto preço dos equipamentos e baixo preço dos serviços se constituem nos ..


Subject(s)
Humans , Laser Therapy/trends , Latin America
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