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1.
J Pediatr Hematol Oncol ; 42(4): e262-e264, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-30543581

RESUMEN

Acute lymphoblastic leukemia (ALL) is one of the most frequent malignancies in childhood whose long-term survival has increased up to 80% thanks to modern therapy enhancements. Nevertheless, methotrexate (MTX) remains a mainstay of ALL therapy, but also represents one of the major causes of neurotoxicity in patients with ALL. MTX-induced toxicity occurs in about 9% of patients treated for ALL. It usually affects deep white matter region leading to leukoencephalopathy, which has varying clinical manifestations ranging from acute neurologic disturbances to seizures or chronic permanent encephalopathy. Here we describe a 13-year-old girl affected with ALL who developed lower limbs hypesthesia and static ataxia due to transverse myelopathy after intrathec administration of MTX therapy. A high-dose corticotherapy combined to vitamin supplementation and rehabilitation was tested. Neurological evolution was characterized by slow and partial recovery.


Asunto(s)
Ataxia , Hipoestesia , Metotrexato , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Adolescente , Ataxia/inducido químicamente , Ataxia/rehabilitación , Femenino , Humanos , Hipoestesia/inducido químicamente , Hipoestesia/rehabilitación , Metotrexato/administración & dosificación , Metotrexato/efectos adversos
2.
Case Rep Pediatr ; 2019: 5427207, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31583153

RESUMEN

Wilms tumor is the most frequent pediatric renal malignancy, and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism, and Cushing syndrome). These conditions can precede, occur concomitantly, or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine syndrome, has already been described in children with malignant tumors (brain, gonadal, adrenal tumors, and hepatoblastoma). However, little is known about central precocious puberty, as paraneoplastic manifestation of nephroblastoma or secondary to its specific chemotherapy. Here, we report a case of Wilms tumor and simultaneous precocious puberty in a 5-year-old girl. The initial diagnosis was premature telarche, but the clinical and biological pubertal progression changed our diagnosis to idiopathic central precocious puberty. Chemotherapy and nephrectomy were well tolerated, and we began treatment with a gonadotropin-releasing hormone agonist which showed favorable outcomes over the short term. We highlight the need for early diagnosis and work-up in all patients of precocious puberty, in order to institute timely management.

3.
Pediatr Int ; 56(5): 779-82, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25335998

RESUMEN

A 5-month-old boy developed splenomegaly, anemia, thrombocytopenia with elevated white cells, monocytosis and immature granulocytes in the peripheral blood. Bone marrow showed dysplasia without blastosis. Increased colony-forming unit-granulocyte-macrophage was found in the peripheral blood, mimicking granulocyte-macrophage colony-stimulating factor hypersensitivity. These findings fulfilled the diagnosis criteria for juvenile myelomonocytic leukemia (JMML), but no mutations in the CBL, NRAS, KRAS, or PTPN11 genes were detected. In addition to these findings severe hypogammaglobulinemia and elevated alkaline phosphatase were present. Bone X-ray showed dense and radiopaque bones with a bone-in-bone appearance characteristic of infantile malignant osteopetrosis (IMO). Genetic mutation in T-cell, immune regulator 1 (TCIRG1) was identified, confirming the diagnosis of IMO. Careful differential diagnosis including osteopetrosis, is therefore recommended in patients with clinical features and hematologic findings consistent with JMML.


Asunto(s)
Leucemia Mielomonocítica Juvenil/diagnóstico , Osteopetrosis/diagnóstico , Diagnóstico Diferencial , Humanos , Lactante , Masculino
4.
J Pediatr Hematol Oncol ; 34(7): 545-7, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22935657

RESUMEN

Pycnodysostosis is a rare sclerosing bone dystrophy. The main clinical features are short stature and oral and maxillofacial abnormalities such as a large head, a small and underdeveloped face with prominent nose and eyes, irregular dentition, small hands and feet with dystrophic nails, and trunk deformities such as scoliosis. The differential diagnosis is established with other skeletal dysplasias such as osteopetrosis, cleidocranial dysplasia, and idiopathic acro-osteolysis. Since its first description in 1962 by Maroteaux and Lamy, about 100 cases have been published, some of these with uncommon features. We describe the case of a 22-year-old European man with pycnodysostosis who developed a chondroblastic osteosarcoma of the right femur. No case of bone cancer in this sclerosing bone disease had been described so far.


Asunto(s)
Neoplasias Femorales/etiología , Osteosarcoma/etiología , Picnodisostosis/complicaciones , Adulto , Humanos , Masculino
5.
Acta Neurol Belg ; 108(2): 35-43, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18795594

RESUMEN

Gliomas are the most common CNS tumours in children and present either as circumscribed tumours or diffusely infiltrative neoplasms. Diffuse gliomas develop both in the cerebral hemispheres and the brainstem and have a poor prognosis. Guidelines for the therapy of these tumours are still debated. In this study, we reviewed the clinical features of 27 consecutive patients with diffuse gliomas admitted to the Department of Paediatrics of CHR Citadelle, University of Liège, between 1985 and 2005. We review their clinical presentation, diagnosis, treatment and outcome with reference to the published literature.


Asunto(s)
Neoplasias Encefálicas/patología , Neoplasias Encefálicas/terapia , Glioma/patología , Glioma/terapia , Adolescente , Antineoplásicos/uso terapéutico , Neoplasias Encefálicas/fisiopatología , Niño , Preescolar , Femenino , Glioma/fisiopatología , Humanos , Lactante , Masculino , Procedimientos Neuroquirúrgicos , Estudios Retrospectivos
7.
J Pediatr Hematol Oncol ; 30(12): 984-6, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19131798

RESUMEN

Primary gastric lymphoma is a rare event in childhood. We describe a 13-year-old boy with gastric Burkitt-like lymphoma localized in the fundus. Symptoms mimicking gastritis-epigastric pain, hypochromic anemia, anorexia, and weight loss had been present for a few months before diagnosis. No Helicobacter pylori infection was shown at diagnosis. Biopsies obtained by ultrasound gastroscopy proved the diagnosis; F-fluorodeoxyglucose-positron emission tomography detected an isolated large gastric hypermetabolic mass. According to the international FAB/LMB 96 trial, the patient was treated with chemotherapy alone and is in first complete remission 2(1/2) years after diagnosis.


Asunto(s)
Linfoma de Burkitt/patología , Neoplasias Gástricas/patología , Adolescente , Linfoma de Burkitt/tratamiento farmacológico , Fluorodesoxiglucosa F18 , Infecciones por Helicobacter/diagnóstico , Infecciones por Helicobacter/tratamiento farmacológico , Helicobacter pylori/aislamiento & purificación , Humanos , Masculino , Tomografía de Emisión de Positrones , Radiofármacos , Neoplasias Gástricas/tratamiento farmacológico
8.
Pediatr Crit Care Med ; 4(4): 418-25, 2003 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-14525635

RESUMEN

OBJECTIVES: Tidal volume (VT) delivered to infants' airways are overestimated and pressure underestimated when measured in the ventilator and not at the Y piece. This study aimed at evaluating the influence of respiratory system impedance on expiratory VT (VTE) and pressure measurement difference. DESIGN: Prospective observational study. SETTING: Pediatric intensive care unit at a university hospital. PATIENTS: Data were collected between February 2000 and October 2001 for 30 infants (range, 1-23 months) ventilated in the pressure-controlled or volume-controlled mode. INTERVENTIONS: Measurements of VTE, pressure obtained at the same time at the Y piece and on the ventilator Servo 300, were collected in ventilated infants. Respiratory system impedance was calculated from data obtained at the Y piece. Circuit compliance was measured in vitro. VTEs were corrected for compressible volume. MEASUREMENTS AND RESULTS: VTEs were overestimated by the Servo 300 in the pressure-controlled and volume-controlled modes (from 5% to 62% of the value displayed on Servo 300). Maximal inspiratory pressures were underestimated by the Servo 300 in the pressure-controlled mode (difference from -2 to +19 cm H(2)O). Measurement difference increased with increasing respiratory system impedance. Ventilator VTE corrected for circuit compliance did not offer a sufficiently accurate estimation of VTE at the Y piece. CONCLUSIONS: VT and pressure measurements must be performed at the Y piece, especially in infants with increased respiratory system impedance (i.e., decreased respiratory system compliance or increased resistance). Correcting VTE for circuit compliance cannot replace measurement of VT at the Y piece.


Asunto(s)
Resistencia de las Vías Respiratorias/fisiología , Intubación Intratraqueal , Rendimiento Pulmonar/fisiología , Respiración con Presión Positiva/instrumentación , Volumen de Ventilación Pulmonar , Impedancia Eléctrica , Femenino , Humanos , Lactante , Masculino , Manometría , Respiración con Presión Positiva/métodos , Estudios Prospectivos
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