Long-Term Kidney and Cardiovascular Complications in Pediatric Cancer Survivors.

OBJECTIVE: The objective of this study was to describe the burden of adverse kidney and hypertension outcomes in patients evaluated by pediatric nephrology in a multidisciplinary survivorship clinic. STUDY DESIGN: Retrospective chart review of all patients followed up by nephrology in our multidisciplinary survivorship clinic from August 2013 to June 2021. Data included clinic blood pressure, longitudinal ambulatory blood pressure monitoring (ABPM), echocardiography, serum creatinine, and first-morning urine protein/creatinine ratios. For patients with multiple ABPMs, results of initial and most recent ABPMs were compared. RESULTS: Of 422 patients followed in the multidisciplinary cancer survivorship clinic, 130 were seen by nephrology. The median time after therapy completion to first nephrology visit was 8 years. The most common diagnoses were leukemia/myelodysplastic syndrome (27%), neuroblastoma (24%), and Wilms tumor (15%). At the last follow-up, 68% had impaired kidney function, 38% had a clinical diagnosis of hypertension, and 12% had proteinuria. There were 91 ABPMs performed in 55 (42%) patients. Patients with multiple ABPMs (n = 21) had statistically significant reductions in overall median blood pressure loads: systolic initial load 37% vs most recent 10% (P = .005) and diastolic load 36% vs 14% (P = .017). Patients with impaired kidney function were more likely to have received ifosfamide. Patients with hypertension were more likely to have received total body irradiation or allogeneic stem cell transplant. CONCLUSIONS: History of leukemia/myelodysplastic syndrome, neuroblastoma, and Wilms tumor was frequent among survivors seen by nephrology. There was significant improvement in cardiovascular measures with increased recognition of hypertension and subsequent treatment.

Evaluation of pediatric patients presenting with acute-onset unilateral transient acquired blepharoptosis.

PURPOSE: To evaluate the clinical features of pediatric patients with acute-onset, unilateral transient acquired blepharoptosis. METHODS: In this retrospective study, the clinical records of patients between April 2015 and June 2020 were reviewed for evaluation of demographic features, accompanying neurological and ophthalmologic manifestations, symptom duration, etiological cause, and imaging findings. Patients with congenital and acquired blepharoptosis with chronic etiologies were excluded. RESULTS: Sixteen pediatric patients (10 boys and 6 girls) with acquired acute-onset unilateral transient blepharoptosis were included in this study. The patients' mean age was 6.93 ± 3.16 years. The most commonly identified etiological cause was trauma in 7 patients (43.75%) and infection (para-infection) in 5 patients (31.25%). In addition, Miller Fisher syndrome, Horner syndrome secondary to neuroblastoma, acquired Brown's syndrome, and pseudotumor cerebri were identified as etiological causes in one patient each. Additional ocular findings accompanied blepharoptosis in 7 patients (58.33%). Blepharoptosis spontaneously resolved, without treatment, in all the patients, except those with Miller Fisher syndrome, neuroblastoma, and pseudotumor cerebri. None of the patients required surgical treatment and had ocular morbidities such as amblyopia. CONCLUSION: This study demonstrated that acute-onset unilateral transient blepharoptosis, which is rare in childhood, may regress without the need for surgical treatment in the pediatric population. However, serious pathologies that require treatment may present with blepharoptosis.

Acute left heart failure with pulmonary edema during resection of pediatric neuroblastoma: case report.

Resection of an unknown neck mass in a 6-year-old child triggered acute left-sided heart failure and pulmonary edema. The lesion was confirmed as neuroblastoma by postoperative tissue examination. Such tumors regularly synthesize and secrete catecholamines, warranting caution in advance of surgical manipulation.

Neuroblastoma cervical: presentación de casos y revisión actualizada del tema / Cervical neuroblastoma: presentation of cases and updated review of the topic

El neuroblastoma es uno de los tumores sólidos extracraneales más comunes en la edad pediátrica, y se origina en células precursoras del sistema nervioso simpático. La ubicación cervical corresponde a un 2-5% del total de los neuroblastomas y puede tener distintas manifestaciones clínicas, tales como masa cervical, disnea, estridor, síndrome de Horner o disfagia. Esta entidad debe ser considerada dentro del diagnóstico diferencial de una masa cervical pediátrica, especialmente ante la presencia de masas sólidas, laterales o paramedianas, palpables o no al examen físico. El tratamiento específico del neuroblastoma depende de la clasificación de riesgo del paciente, pudiendo ser expectante en casos específicos, exclusivamente quirúrgico, o bien requerir complementarse con otras terapias. En este artículo se presentan 2 casos clínicos de pacientes pediátricos con neuroblastoma cervical tratados de forma exclusiva y exitosa con cirugía, y una revisión del tema.

Neuroblastoma is one of the commonest extracranial solid tumors at pediatric age, originating from sympathetic nervous system precursor cells. Cervical position stands for 2-5% of all neuroblastomas, with variable clinical expression that includes cervical mass, dyspnea, stridor, Horner syndrome and dysphagia. This condition must be considered in the differential diagnosis of a pediatric cervical mass, specially in those solid, lateral/paramedian masses that could be palpable or not at physical examination. The specific treatment in neuroblastoma depends on patient´s risk group, including conservative follow-up in selected cases, surgery alone, or complementary perioperative therapy with chemotherapy and others. In this article, the group report two cases of cervical neuroblastoma exclusively treated with surgery with good results, and a literature review.

Crisis adrenérgica como forma de debut de un neuroblastoma / Adrenergic crisis as a debut form of a neuroblastoma

INTRODUCCIÓN: La forma clínica de presentación más común del neuroblastoma es el de una masa abdominal, pero puede presentarse con sintomatología menos habitual, como es la crisis adrenérgica por liberación de catecolaminas. OBJETIVO: Describir una forma de presentación inusual de neuroblastoma y el amplio diagnóstico diferencial que existe en un lactante con síntomas adrenérgicos. CASO CLÍNICO: Lactante femenina de 7 semanas de vida, consultó por historia de tres semanas de sudoración e irritabilidad a lo que se asoció fiebre de 24 h de evolución y dificultad respiratoria. Al ingreso presentaba mal esta do general, irritabilidad, sudoración, enrojecimiento facial, taquipnea y palidez cutánea, taquicardia sinusal extrema e hipertensión arterial (HTA), interpretadas como sintomatología adrenérgica. Se completó el estudio con una ecografía abdominal y resonancia magnética que mostraron una gran masa retroperitoneal compatible con neuroblastoma. Las catecolaminas en sangre y en orina mostraron altos niveles de dopamina, adrenalina y noradrenalina, probablemente de origen tumoral. Se inició tratamiento antihipertensivo con fármacos alfa bloqueantes con buen control de la tensión arterial. Se resecó quirúrgicamente el tumor sin incidencias y con una adecuada recuperación posterior. La paciente presentó evolución favorable a tres años de seguimiento. CONCLUSIONES: en un lactante con sintomatología adrenérgica como irritabilidad, enrojecimiento, sudoración asociada a HTA, se debe descartar patología cardiaca, metabólica (hipoglucemia), intoxicaciones y/o patología suprarrenal. Dentro de esta última, el neuroblastoma es la primera posibilidad diagnóstica, por ser uno de los principales tumores en la infancia y aunque esta presentación no es habitual puede producir estos síntomas.

INTRODUCTION: The most common clinical presentation of neuroblastoma is an abdominal mass, but it can present with uncommon symptoms, such as adrenergic storm due to catecholamine release. OBJECTIVE: To describe an unusual presentation of neuroblastoma and the wide differential diagnosis that exists in an infant with adrenergic symptoms. CLINICAL CASE: A 7-week old female infant was evaluated due to a 3-week history of sweating and irritability associated with a 24-hour fever and respiratory distress. At admission, she presented poor general condition, irritability, sweating, facial redness, tachypnea and skin paleness, extreme sinus tachycardia, and high blood pressure (HBP), interpreted as adrenergic symptoms. The study was completed with abdominal ultrasound and magnetic reso nance imaging that showed a large retroperitoneal mass compatible with neuroblastoma. Plasma and urinary catecholamines tests showed high levels of dopamine, adrenaline, and noradrenaline, probably of tumor origin. We started antihypertensive treatment with alpha-blocker drugs, showing a good blood pressure control. The tumor was surgically resected without incidents and adequate subsequent recovery. The patient presented a favorable evolution after three years of follow-up. CONCLUSIONS: In an infant with adrenergic symptoms such as irritability, redness, sweating associated with HBP, it should be ruled out pathology heart or metabolic (hypoglycemia) pathology, intoxications, and/or adrenal pathology. Within this last one, neuroblastoma is the first diagnostic possibility, since it is one of the main tumors in childhood and, although this presentation is not usual, it can produce these symptoms.

Adrenergic crisis as a debut form of a neuroblastoma. / Crisis adrenérgica como forma de debut de un neuroblastoma.

INTRODUCTION: The most common clinical presentation of neuroblastoma is an abdominal mass, but it can present with uncommon symptoms, such as adrenergic storm due to catecholamine release. OBJECTIVE: To describe an unusual presentation of neuroblastoma and the wide differential diagnosis that exists in an infant with adrenergic symptoms. CLINICAL CASE: A 7-week old female infant was evaluated due to a 3-week history of sweating and irritability associated with a 24-hour fever and respiratory distress. At admission, she presented poor general condition, irritability, sweating, facial redness, tachypnea and skin paleness, extreme sinus tachycardia, and high blood pressure (HBP), interpreted as adrenergic symptoms. The study was completed with abdominal ultrasound and magnetic reso nance imaging that showed a large retroperitoneal mass compatible with neuroblastoma. Plasma and urinary catecholamines tests showed high levels of dopamine, adrenaline, and noradrenaline, probably of tumor origin. We started antihypertensive treatment with alpha-blocker drugs, showing a good blood pressure control. The tumor was surgically resected without incidents and adequate subsequent recovery. The patient presented a favorable evolution after three years of follow-up. Con clusions: In an infant with adrenergic symptoms such as irritability, redness, sweating associated with HBP, it should be ruled out pathology heart or metabolic (hypoglycemia) pathology, intoxications, and/or adrenal pathology. Within this last one, neuroblastoma is the first diagnostic possibility, since it is one of the main tumors in childhood and, although this presentation is not usual, it can produce these symptoms.

[Opsoclonus myoclonus syndrome secondary to abdominal neuroblastoma. Presentation of a pediatric clinical case]. / Síndrome de opsoclonus mioclonus secundario a neuroblastoma abdominal. Presentación de un caso clínico pediátrico.

Opsoclonus-myoclonus syndrome is a rare disorder among pediatric patients. The diagnosis is clinical and is characterized by the presence of at least three of the following: opsoclonus, myoclonus, ataxia, irritability and sleep disorders. In over 50 % of cases it is associated with the presence of Neuroblastoma. It is a disorder of immune origin and its treatment is based on immunosuppressants, immunomodulators and tumor resection in cases secondary to Neuroblastoma. Up to 70 % to 80 % of cases may present neurological sequelae, depending on the cause, the initial severity of symptoms and the delay of proper treatment. We present the case of a 2-year-old male with diagnosis of opsoclonus-myoclonus syndrome secondary to a left adrenal Neuroblastoma. Tumor resection and treatment with corticosteroids, immunoglobulin and rituximab were performed.

El síndrome de opsoclonus mioclonus es un trastorno poco frecuente en pediatría. El diagnóstico es clínico y se caracteriza por la presencia de, al menos, tres de los siguientes: opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En más del 50 % de los casos, se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y su tratamiento es a base de inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Entre el 70 % y el 80 % de los casos pueden tener secuelas neurológicas, dependiendo de la causa, la gravedad inicial de los síntomas y la velocidad de instauración del tratamiento. Se presenta el caso de un varón de 2 años con diagnóstico de síndrome de opsoclonus mioclonus secundario a un neuroblastoma suprarrenal izquierdo, en el que se realizó la resección tumoral y el tratamiento con corticoides, inmunoglobulina y rituximab.

[Acute shock secondary to congenital neuroblastoma: Neonatal case report]. / Shock agudo secundario a un neuroblastoma congénito: Caso clmico neonatal.

Congenital neuroblastoma is the most frequent malignant solid tumor in the neonatal period. The clinical presentation is usually either by prenatal diagnosis or by palpation of an abdominal mass. Staging allows classifying it according to risk groups with a different prognosis and treatment. In the neonatal period, it is characterized by a high rate of spontaneous regression and good prognosis (disease-free survival at 5 years greater than 90 %). We present a clinical case of congenital neuroblastoma whose presentation, shock and hypertension, was only described on a previous occasion. Antihypertensive treatment along with systemic chemotherapy produced clinical control and patient improvement.

El neuroblastoma congénito es el tumor sólido maligno más frecuente en el período neonatal. La forma de presentación suele ser por diagnóstico prenatal o por una masa abdominal. Su estadificación permite clasificarlo en grupos de riesgo con pronóstico y tratamiento diferentes. En el período neonatal, se caracteriza por la alta tasa de regresión espontánea y el buen pronóstico (supervivencia libre de enfermedad a los 5 años superior al 90 %). Se presenta un caso clínico de neuroblastoma congénito cuya forma de presentación, shock e hipertensión, solo estaba descrita en otra ocasión antes. El tratamiento antihipertensivo, junto con la quimioterapia sistémica, produjo el control clínico y la mejoría del paciente.

Anesthetic management of an infant with giant abdominal neuroblastoma.

Neuroblastoma is the most common, non-central nervous system tumor of childhood. It has the potential to synthesize catecholamines. However, the presences of hypertension are uncommon. We report the perioperative management of a 15-month-old infant with giant abdominal neuroblastoma who presented severe hypertension. The pathophysiological alterations of neuroblastoma are reviewed and perioperative management presented.

Simultaneous Adrenocortical Carcinoma and Neuroblastoma in an Infant With a Novel Germline p53 Mutation.

We present an infant with 2 simultaneous, but histologically distinct tumors with a novel germline p53 mutation. The child was found to have a paraspinal neuroblastoma, a concurrent adrenal cortical carcinoma, and an I162F p53 gene mutation. We review the associations of germline p53 mutations (or Li-Fraumeni syndrome) with both tumor types and the current research in similar germline p53 mutations. Finally, we discuss the multiple ways in which our patient is unique including the paucity of cases with simultaneous but histologically unrelated tumors and the fact that our patient is the first reported case of an I162F germline p53 mutation.

Disseminated fusariosis secondary to neuroblastoma with fatal outcome.

Disseminated fusariosis is an uncommon clinical condition in immunocompromised patients. We report a fatal case of disseminated fusariosis secondary to neuroblastoma in a male patient, 15 years old, who underwent a bone marrow transplant. The patient was admitted to the pediatric intensive care unit (PICU) of a public hospital in Recife-PE, Brazil, presenting bone marrow aplasia, severe leukopenia, and thrombocytopenia. After 15 days, the patient developed right knee effusion. Synovial fluid and blood samples were analyzed at the Medical Mycology Laboratory of the Federal University of Pernambuco. Mycological diagnosis was based on the presence of hyaline septate hyphae on direct examination and the isolation of Fusarium oxysporum in culture, confirming the case of disseminated fusariosis. In vitro, the isolate showed fluconazole resistance and sensitivity to amphotericin B, anidulafungin, and voriconazole. Therapy with voriconazole in combination with liposomal amphotericin B led to an improved clinical response; however, due to underlying disease complications, the patient progressed to death.

Síndrome de opsoclonus-mioclonus secundario a neuroblastoma torácico. Presentación de un caso clínico y discusión de nuevas estrategias terapéuticas / Syndrome thoracic neuroblastoma secondary to opsoclonus-myoclonus. Presentation of a case and discussion of new therapeutic strategies

El síndrome de opsoclonus-mioclonus o síndrome de Kinsbourne es un trastorno poco frecuente. El diagnóstico es clínico y se caracteriza por la presencia de opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En 45% de los casos se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y sutratamiento es en base a inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Durante años los corticoides han sido el tratamiento gold standard, asociándose posteriormente la inmunoglobulina endovenosa. Sinembargo, dada la alta prevalencia de corticodependencia y de sus efectos adversos, así como el mal pronóstico neurológico (entre 70% y 80% de los casos pueden tener secuelas neurológicas: déficit cognitivo, alteraciones visuales, motoras, práxicas, del lenguaje y conductuales), las investigaciones en los últimos años se han centrado en la utilización de nuevos fármacos. Los últimos estudios publicados avalan el uso de la terapia multimodal con el agregado de un tercer fármaco como el rituximab o laciclofosfamida. Se presenta el caso clínico de un varón de 2 años y 4 meses con diagnóstico de síndrome deopsoclonus-mioclonus se cundario a un neuroblastomatorácico en el que se realizó la resección tumoral y tratamiento con corticoides, inmunoglobulina y ciclofosfamida. Presentó una recaída frente al descenso de los corticoides y, actualmente, al año y seis meses del diagnóstico bajo dosis bajas de corticoides tiene un retraso en la adquisición del lenguaje sin otros síntomas acompañantes...

Síndrome de opsoclonus-mioclonus secundario a neuroblastoma torácico. Presentación de un caso clínico y discusión de nuevas estrategias terapéuticas / Syndrome thoracic neuroblastoma secondary to opsoclonus-myoclonus. Presentation of a case and discussion of new therapeutic strategies

El síndrome de opsoclonus-mioclonus o síndrome de Kinsbourne es un trastorno poco frecuente. El diagnóstico es clínico y se caracteriza por la presencia de opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En 45% de los casos se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y sutratamiento es en base a inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Durante años los corticoides han sido el tratamiento gold standard, asociándose posteriormente la inmunoglobulina endovenosa. Sinembargo, dada la alta prevalencia de corticodependencia y de sus efectos adversos, así como el mal pronóstico neurológico (entre 70% y 80% de los casos pueden tener secuelas neurológicas: déficit cognitivo, alteraciones visuales, motoras, práxicas, del lenguaje y conductuales), las investigaciones en los últimos años se han centrado en la utilización de nuevos fármacos. Los últimos estudios publicados avalan el uso de la terapia multimodal con el agregado de un tercer fármaco como el rituximab o laciclofosfamida. Se presenta el caso clínico de un varón de 2 años y 4 meses con diagnóstico de síndrome deopsoclonus-mioclonus se cundario a un neuroblastomatorácico en el que se realizó la resección tumoral y tratamiento con corticoides, inmunoglobulina y ciclofosfamida. Presentó una recaída frente al descenso de los corticoides y, actualmente, al año y seis meses del diagnóstico bajo dosis bajas de corticoides tiene un retraso en la adquisición del lenguaje sin otros síntomas acompañantes

Causa infrecuente de hipertensión arterial en lactantes: neuroblastoma congénito quístico suprarrenal: caso clínico / A rare cause of hypertension in childhood: congenital cystic adrenal neuroblastoma: clinical case

The frequency of hypertension (HBP) in children has increased significantly over the past decade. The younger the patient the greater the likelihood of having secondary HBP. Thus, the main causes of hypertension in new-borns are of renovascular or parenchymatous origin. objective: To present the case of an infant with hypertension caused by a congenital cystic neuroblastoma (NB). Case History: Newborn with prenatal diagnosis of adrenal cyst, who evolved with significant hypertension unresponsive to medical therapy. Neuroblastoma was suspected on the basis of magnetic resonance imaging findings and resection of the lesion was able to resolve the hypertension and to confirm the diagnosis by anatomo-pathological study. Conclusion: Most cases of neonatal hypertension are of renal origin, with the 2 largest categories being renovascular and renal parenchymal diseases. NB is the most common neonatal malignancy. It usually presents as an abdominal mass of antenatal diagnosis, being the hypertension an unusual form of presentation.

La frecuencia de hipertensión arterial (HTA) en niños ha aumentado significativamente en la última década. A menor edad del paciente mayor es la probabilidad de que la HTA sea secundaria. Así, las principales causas de HTA en recién nacidos son de origen renovascular o parenquimatoso. objetivo: Presentar el caso de un lactante hipertenso por neuroblastoma (NB) congénito quístico. Caso Clínico: Recién nacido con diagnóstico prenatal de quiste suprarrenal, quien evolucionó con HTA por sobre el percentil 99 para edad, sexo y talla, sin respuesta a terapia farmacológica. La resonancia magnética permitió realizar el diagnóstico presuntivo de neuroblastoma congénito y la resección de la lesión permitió resolver la HTA y confirmar el diagnóstico. Conclusión: La HTA en recién nacidos generalmente se debe a causas secundarias. El NB es el tumor maligno neonatal más frecuente que se puede presentar como una masa abdominal de diagnóstico antenatal, siendo la HTA una forma infrecuente de presentación.

Neuroblastoma in the adult. Case report.

BACKGROUND: Neuroblastoma is a common malignancy in infancy but extremely rare in adults. These tumors, commonly found in the abdomen, originate in the sympathetic nervous system. Staging and management are standardized in children and adults, although their prognosis is very different, being more aggressive and with a poorer outcome in the adult. CLINICAL CASE: We present the case of a 31-year-old male with non-specific abdominal pain and constipation. After several studies, a stage III giant retroperitoneal neuroblastoma was diagnosed. We discuss here the evaluation, management and follow-up of the patient. A literature review is presented as well. CONCLUSIONS: Adult neuroblastoma is an unusual disease with an insidious presentation and is usually diagnosed in advanced stages. Unlike its behavior in young patients, in the adult it is more aggressive and with a poor prognosis.

Neuroblastoma in a patient with Coffin-Siris syndrome.

We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, micrognathia, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis. In the follow-up he presented a retroperitoneal neuroblastoma. Although this type of tumor has been referred to develop in several genetic and mutimalformative syndromes, it seems that present association has not been previously reported.