RESUMO
Detection of a retroperitoneal mass in children needs a fast and accurate exploration. We present the case-reports of 2 children under the age of 5 years admitted to the University Hospital of Liège, one with a Wilms tumor and one with a neuroblastoma.
Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias Renais/diagnóstico , Neuroblastoma/diagnóstico , Neoplasias Retroperitoneais/diagnóstico , Tumor de Wilms/diagnóstico , Neoplasias das Glândulas Suprarrenais/tratamento farmacológico , Neoplasias das Glândulas Suprarrenais/cirurgia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Feminino , Humanos , Lactente , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/cirurgia , Masculino , Estadiamento de Neoplasias , Neuroblastoma/tratamento farmacológico , Neuroblastoma/cirurgia , Neoplasias Retroperitoneais/tratamento farmacológico , Neoplasias Retroperitoneais/cirurgia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Tumor de Wilms/tratamento farmacológico , Tumor de Wilms/cirurgiaRESUMO
Detection of a retroperitoneal mass in children needs a fast and accurate exploration. Wilms tumor and neuroblastoma, the most frequent, will be presented more in detail including their clinical and biological characteristics, their diagnostic tests and their primary therapeutic treatments.
Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias Renais/diagnóstico , Neuroblastoma/diagnóstico , Neoplasias Retroperitoneais/diagnóstico , Tumor de Wilms/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Biomarcadores Tumorais/sangue , Quimioterapia Adjuvante , Diagnóstico Diferencial , Humanos , Lactente , Neoplasias Renais/terapia , Estadiamento de Neoplasias , Nefrectomia , Neuroblastoma/terapia , Radioterapia Adjuvante , Neoplasias Retroperitoneais/sangue , Neoplasias Retroperitoneais/terapia , Fatores de Risco , Resultado do Tratamento , Tumor de Wilms/terapiaRESUMO
Erythema multiforme (EM) is an immune-mediated disease categorized into EM minor and EM major, also called Stevens-Johnson syndrome (SJS), not to be confused with toxic epidermal necrosis (TEN), as physiopathological pathways are throughly different. Mycoplasma pneumoniae is an intracellular germ, generally responsible for atypical respiratory infections. It may be associated with erythema multiforme, eventually recurrent, illustrated by the present case report.
Assuntos
Eritema Multiforme/microbiologia , Pneumonia por Mycoplasma/diagnóstico , Pré-Escolar , Humanos , Masculino , Mycoplasma pneumoniae/isolamento & purificaçãoRESUMO
We describe a case of a 10 year old patient who presented with intermittent fever and pain in the pelvis and elbow region. From the history, imaging and laboratory tests, a diagnosis of Brucella sacroiliitis and elbow osteoarthritis was made. The patient was given an antibiotic treatment for 3 months with a progressive improvement of symptoms to complete recovery, and normalization of imaging and laboratory findings.
Assuntos
Artrite Infecciosa/microbiologia , Brucella melitensis , Brucelose/complicações , Osteomielite/microbiologia , Articulação Sacroilíaca , Antibacterianos/uso terapêutico , Antibióticos Antituberculose/uso terapêutico , Artrite Infecciosa/diagnóstico , Artrite Infecciosa/tratamento farmacológico , Brucella melitensis/isolamento & purificação , Brucelose/diagnóstico , Brucelose/tratamento farmacológico , Criança , Doxiciclina/uso terapêutico , Quimioterapia Combinada , Feminino , Gentamicinas/uso terapêutico , Humanos , Úmero , Rifampina/uso terapêutico , Resultado do TratamentoRESUMO
Spondylodiscitis, a septic infection of the intervertebral disc Spondylodiscitis, a septic infection of the intervertebral disc and adjacent vertebrae, is an unusual infection, mainly affecting children and elderly people. It is classically associated with tuberculosis, but other germs such as Staphylococcus aureus, Streptococcus pyogenes or mitis, and some even more unususal ones (e.g. Kingella kingae), are often encountered in our countries. Non tuberculous spondylodiscitis is found in approximately 2% of pediatric bone infections. Medullar compression and bone destruction can occur, especially when diagnosis is delayed, hence the value of early diagnosis and treatment. We report the case of a non tuberculous spondylodiscitis occurring in a 22 month-old baby
Assuntos
Discite/complicações , Transtornos Neurológicos da Marcha/etiologia , Vértebras Lombares/patologia , Sacro/patologia , Antibacterianos/uso terapêutico , Ceftriaxona/uso terapêutico , Pré-Escolar , Discite/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia por Emissão de Pósitrons , Teicoplanina/uso terapêuticoRESUMO
Compression of the left renal vein between the aorta and the superior mesenteric artery causes a physiological condition, the so-called nutcracker phenomenon, but it can sometimes lead to left venous hypertension, or "nutcracker syndrome". Classical manifestations of which are an association of left flank pain, unilateral proteinuria and unilateral hematuria, without renal impairment. We report an atypical association of nutcracker syndrome with IgM nephropathy.
Assuntos
Dor Abdominal/diagnóstico , Doenças Vasculares Periféricas/diagnóstico , Veias Renais/patologia , Aorta Abdominal/patologia , Criança , Constrição Patológica/diagnóstico , Feminino , Seguimentos , Humanos , Hipertensão Renal/diagnóstico , Artérias Mesentéricas/patologia , RecidivaRESUMO
The incidence of B pertussis has increased by 50% from the 1980s to the 1990s, primarily among those aged 4 months and younger. Worldwide, pertussis is a significant cause of infectious mortality with 40 million cases and 400.000 deaths. Most of these cases and deaths occur in infancy. Symptoms vary from common cold in adults to respiratory distress in infants. Non immune babies with respiratory disease and significant lymphocytosis should be considered to have pertussis until proven otherwise. The onset of severe pulmonary hypertension during B pertussis pneumonia is frequenly rapid and relentless. Exchange-transfusion can be life-saving by reducing the leucocyte mass. Classic vaccination or boosters given to adults and adolescents would reduce the spread from parents tho infants, but a new vaccination schedule is under investigation at Vanderbilt Children's Hospital to give baby's first pertussis vaccination at birth?
Assuntos
Coqueluche/diagnóstico , Dispneia/microbiologia , Evolução Fatal , Humanos , Hiponatremia/microbiologia , Lactente , Masculino , Insuficiência Respiratória/microbiologia , Taquicardia/microbiologiaRESUMO
Focal acute bacterial nephritis (lobar nephronia) is a localized bacterial infection of the kidney that has rarely been described in childhood. It is frequently associated to urinary tract anomalies and malformations and its diagnosis is based upon renal ultrasonography and computed tomography. In this article, we report a case in an 8 year old boy admitted to hospital in a septic state.
Assuntos
Infecções Bacterianas/diagnóstico , Infecção Focal/diagnóstico , Nefrite/diagnóstico , Dor Abdominal/microbiologia , Doença Aguda , Antibacterianos/uso terapêutico , Infecções Bacterianas/tratamento farmacológico , Infecções Bacterianas/etiologia , Criança , Diagnóstico Diferencial , Febre/microbiologia , Infecção Focal/tratamento farmacológico , Infecção Focal/etiologia , Cefaleia/microbiologia , Humanos , Masculino , Nefrite/tratamento farmacológico , Nefrite/etiologia , Tomografia Computadorizada por Raios X , Ureter/anormalidades , Ureter/cirurgia , Ureteroscopia , Urodinâmica , Urografia , Vômito/microbiologiaRESUMO
A 12-year old female, suffering from recurring episodes of icterus and abdominal pain, is hospitalized in emergency. She is not anemic but her hemogram reveals a high level of hyperdense red blood cells (32%; controls 0-2.5%) and an abnormal reticulocyte count (201 x 10(3)/microL; controls 29-84 x 10(3)/microL), indicating a 3.5 fold increase in RBC production. The same abnormalities are found in the patient's mother. The blood smear shows few spherocytes. RBC osmotic fragility is increased only after incubation. Hereditary spherocytosis is diagnosed following electrophoresis of membrane proteins which reveals a deficiency in band 3, a protein which links the lipid bilayer to the cytoskeleton. This case of hemolytic anemia-illustrates the physiopathologic and diagnostic significance of hyperdense RBC, which reflect the cell dehydration associated with the membrane disorder.
Assuntos
Eritrócitos/patologia , Esferocitose Hereditária/diagnóstico , Esferocitose Hereditária/fisiopatologia , Dor Abdominal/etiologia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Icterícia/etiologia , Proteínas de Membrana/química , LinhagemRESUMO
Myoclonic astatic epilepsy (MAE) belongs to the epilepsies with generalized seizures. MAE occurs in 1-2% of all childhood epilepsies up to age 9. This disease is characterized by various clinical and EEG criteria. The course of this epileptic syndrome is variable but influenced by an early diagnosis and by a specific treatment.
Assuntos
Epilepsias Mioclônicas/patologia , Diagnóstico Diferencial , Eletroencefalografia , Humanos , Lactente , Masculino , PrognósticoRESUMO
Pancreatic injury after trauma can occur in the child as an isolated lesion after a minor injury. The consequences can be severe in the absence of prompt diagnosis and treatment. Determination of mechanism of injury, clinical examination, blood amylase levels and abdominal CT-scan are first line steps for the evaluation of the injury. ERCP and MRI can be useful tools to further document injury to the pancreatic duct. In the absence of duct injury, conservative treatment can be applied. For the other cases, the treatment is surgical although newer techniques may be applied in selected cases.
Assuntos
Traumatismos Abdominais/diagnóstico , Traumatismos Abdominais/terapia , Pâncreas/lesões , Traumatismos Abdominais/classificação , Amilases/sangue , Criança , Humanos , Pâncreas/cirurgia , PancreatectomiaRESUMO
We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick, abnormal auricles, ASD, minor hand anomalies, growth and mental retardation. Three convincing cases of "Aminopterin Syndrome Sine Aminopterin" have been reported (the fourth case possibly having the Juberg-Hayward syndrome). Variability and heterogeneity of cases with apparent aminopterin embryopathy are discussed.
Assuntos
Anormalidades Múltiplas , Aminopterina , Teratogênicos , Criança , Craniossinostoses , Humanos , Deficiência Intelectual , Masculino , SíndromeRESUMO
We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis seems unreliable. Facial features change dramatically with age and diagnosis is likely to be easily missed beyond the neonatal period. No metabolic defect has been detected. Inheritance is probably autosomal recessive.
Assuntos
Anormalidades Múltiplas/diagnóstico , Osso e Ossos/anormalidades , Face/anormalidades , Crânio/anormalidades , Anormalidades Urogenitais , Anormalidades Múltiplas/genética , Feminino , Humanos , Recém-Nascido , Fenótipo , SíndromeRESUMO
We report three new isolated cases of orocraniodigital syndrome (Juberg-Hayward syndrome). The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip/palate, hypertelorism, bowed and upward slanting eyebrows, thumb hypo/aplasia or proximal/distal thumb displacement, luxation of the radial head, elbow restriction, minor vertebral and rib anomalies, and horseshoe kidneys. New features observed in our patients are severe mental impairment (not correlated with the severity of the malformations), anterior anal displacement, and ptosis. Recessive inheritance is likely, but autosomal dominant inheritance cannot yet be totally ruled out; therefore, genetic counselling of parents of an affected child and of affected patients themselves must be cautious.