RESUMO
The embryologic development of the spinal cord is a remarkably complex process. Spinal abnormalities can occur in isolation or be part of a clinical syndrome commonly summarized as spinal dysraphism. Proper evaluation of spinal malformations with imaging is required for early diagnosis prior to counseling and selection of postnatal treatment options. The preferred imaging modality of the spine in newborns up to 3 months of age are ultrasound (US) and magnetic resonance imaging (MRI). The diagnostic workup should preferably start with the safe, minimal invasive (no need for sedation), cost-effective, and bedside US as a screening procedure. On the other hand, need for sedation, thermal instability of infants, and high cost make the use of spinal MRI impracticable for screening purposes. US is also a well-established imaging modality to investigate the spinal cord and canal during pregnancy. It is critical to follow a strict protocol in an attempt to precisely identify all imaging findings, one should be familiar with the normal ultrasonographic appearance of bony and soft tissue structures in the various planes and one should be able to correlate the abnormal findings with spinal cord embryology as it aids in identifying the etiology. US should be considered as a first-line imaging for neonates suspected of spinal anomalies. In this article, we discuss up-to-date US technique of the spine, the most frequently encountered neonatal spinal malformations seen with US and correlate these findings with the relevant embryologic processes.
Assuntos
Medula Espinal/diagnóstico por imagem , Disrafismo Espinal/diagnóstico por imagem , Ultrassonografia/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Gravidez , Tomografia Computadorizada por Raios X/métodosRESUMO
Gastric lactobezoar, a pathological conglomeration of milk and mucus in the stomach of milk-fed infants often causing gastric outlet obstruction, is a rarely reported disorder (96 cases since its first description in 1959). While most patients were described 1975-1985 only 26 children have been published since 1986. Clinically, gastric lactobezoars frequently manifest as acute abdomen with abdominal distension (61.0% of 96 patients), vomiting (54.2%), diarrhea (21.9%), and/or a palpable abdominal mass (19.8%). Respiratory (23.0%) and cardiocirculatory (16.7%) symptoms are not uncommon. The pathogenesis of lactobezoar formation is multifactorial: exogenous influences such as high casein content (54.2%), medium chain triglycerides (54.2%) or enhanced caloric density (65.6%) of infant milk as well as endogenous factors including immature gastrointestinal functions (66.0%), dehydration (27.5%) and many other mechanisms have been suggested. Diagnosis is easy if the potential presence of a gastric lactobezoar is thought of, and is based on a history of inappropriate milk feeding, signs of acute abdomen and characteristic features of diagnostic imaging. Previously, plain and/or air-, clear fluid- or opaque contrast medium radiography techniques were used to demonstrate a mass free-floating in the lumen of the stomach. This feature differentiates a gastric lactobezoar from intussusception or an abdominal neoplasm. Currently, abdominal ultrasound, showing highly echogenic intrabezoaric air trapping, is the diagnostic method of choice. However, identifying a gastric lactobezoar requires an investigator experienced in gastrointestinal problems of infancy as can be appreciated from the results of our review which show that in not even a single patient gastric lactobezoar was initially considered as a possible differential diagnosis. Furthermore, in over 30% of plain radiographs reported, diagnosis was initially missed although a lactobezoar was clearly demonstrable on repeat evaluation of the same X-ray films. Enhanced diagnostic sensitivity would be most rewarding since management consisting of cessation of oral feedings combined with administration of intravenous fluids and gastric lavage is easy and resolves over 85% of gastric lactobezoars. In conclusion, gastric lactobezoar is a disorder of unknown prevalence and is nowadays very rarely published, possibly because of inadequate diagnostic sensitivity and/or not yet identified but beneficial modifications of patient management.
Assuntos
Bezoares/epidemiologia , Doenças Raras/epidemiologia , Gastropatias/epidemiologia , Abdome Agudo/diagnóstico , Bezoares/diagnóstico , Bezoares/patologia , Bezoares/terapia , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Raras/diagnóstico , Doenças Raras/patologia , Doenças Raras/terapia , Gastropatias/diagnóstico , Gastropatias/patologia , Gastropatias/terapiaRESUMO
BACKGROUND: Uterus didelphys with obstructed hemivagina (UDWOH) and ipsilateral renal agenesis is a distinct but rare entity. OBJECTIVE: To demonstrate the association between UDWOH and a multicystic dysplastic kidney (MCDK) in neonates. To demonstrate the usefulness of sonography with vaginal fluid instillation in the early and reliable diagnosis of this genital anomaly in girls with MCDK. MATERIALS AND METHODS: Our patients were five female neonates with a MCDK, which had been detected in utero. We performed sonography of the internal genitalia in all patients before and after filling the vagina with saline. RESULTS: In all five girls, sonographic examination revealed uterus didelphys with obstruction of the vagina ipsilateral to the MCDK. In three girls, a dilated ureter originating from the MCDK and extending to the level of the vagina could be clearly demonstrated, with one of these including the ureteric insertion into the atretic vagina. CONCLUSION: MCDK is key to the early diagnosis of UDWOH and will facilitate the provision of appropriate treatment. The neonatal period provides a unique opportunity for detecting uterine anomalies by sonography. An MCDK usually involutes and eventually mimics renal agenesis later in life.
Assuntos
Anormalidades Congênitas/diagnóstico , Nefropatias/congênito , Rim Displásico Multicístico/diagnóstico , Útero/anormalidades , Vagina/anormalidades , Doenças Vaginais/diagnóstico , Anormalidades Congênitas/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Rim/anormalidades , Rim/diagnóstico por imagem , Nefropatias/diagnóstico , Nefropatias/diagnóstico por imagem , Rim Displásico Multicístico/diagnóstico por imagem , Ultrassonografia , Útero/diagnóstico por imagem , Vagina/diagnóstico por imagem , Doenças Vaginais/diagnóstico por imagemRESUMO
Takayasu arteritis is a devastating vasculitis of the aorta and its major branches. The clinical manifestations in paediatric patients are less specific than in adults: in children the disease presents with fever, arthralgias and hypertension. Intramural inflammation results in narrowing of the blood vessel lumen and therefore hypoperfusion of the parenchyma. Conventional angiography is the gold standard diagnostic procedure. Corticosteroids, cyclophosphamide, MTX and biological therapies such as TNF-α blocking agents are treatment options.
Assuntos
Corticosteroides/uso terapêutico , Antirreumáticos/uso terapêutico , Ciclofosfamida/uso terapêutico , Arterite de Takayasu/tratamento farmacológico , Fator de Necrose Tumoral alfa/uso terapêutico , Adolescente , Adulto , Fatores Etários , Angiografia/métodos , Criança , Humanos , Arterite de Takayasu/fisiopatologia , Adulto JovemAssuntos
Acetilcisteína/uso terapêutico , Bezoares/tratamento farmacológico , Leite , Estômago , Adolescente , Adulto , Animais , Bovinos , Feminino , Humanos , Adulto JovemRESUMO
Signaling output of bone morphogenetic proteins (BMPs) is determined by two sets of opposing interactions, one with heterotetrameric complexes of cell surface receptors, the other with secreted antagonists that act as ligand traps. We identified two mutations (N445K,T) in patients with multiple synostosis syndrome (SYM1) in the BMP-related ligand GDF5. Functional studies of both mutants in chicken micromass culture demonstrated a gain of function caused by a resistance to the BMP-inhibitor NOGGIN and an altered signaling effect. Residue N445, situated within overlapping receptor and antagonist interfaces, is highly conserved among the BMP family with the exception of BMP9 and BMP10, in which it is substituted with lysine. Like the mutant GDF5, both BMPs are insensitive to NOGGIN and show a high chondrogenic activity. Ectopic expression of BMP9 or the GDF5 mutants resulted in massive induction of cartilage in an in vivo chick model presumably by bypassing the feedback inhibition imposed by endogenous NOGGIN. Swapping residues at the mutation site alone was not sufficient to render Bmp9 NOG-sensitive; however, successive introduction of two additional substitutions imparted high to total sensitivity on customized variants of Bmp9. In conclusion, we show a new mechanism for abnormal joint development that interferes with a naturally occurring regulatory mechanism of BMP signaling.
Assuntos
Proteínas Morfogenéticas Ósseas/antagonistas & inibidores , Proteínas de Transporte/fisiologia , Fator 5 de Diferenciação de Crescimento/genética , Mutação , Animais , Cartilagem , Células Cultivadas , Galinhas , Retroalimentação Fisiológica , Humanos , Camundongos , Sinostose/genéticaRESUMO
Abdominal complaints are a frequent early feature of Kawasaki disease, an acute systemic febrile vasculitis of childhood. The only well known correlating morphological finding on abdominal US is gallbladder hydrops. We report two boys with Kawasaki disease who showed segmental thickening of the small-bowel wall on abdominal US. These changes are thought to result from bowel-wall oedema due to vasculitis of the supplying vessels. We conclude that in an acutely ill febrile child with the finding of segmental bowel-wall thickening on abdominal US, Kawasaki disease should be considered in the differential diagnosis. The search for gallbladder hydrops and segmental bowel-wall thickening on abdominal US may serve as an important diagnostic tool in Kawasaki disease, supporting early recognition and prompt treatment.
Assuntos
Intestino Delgado/diagnóstico por imagem , Síndrome de Linfonodos Mucocutâneos/diagnóstico por imagem , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Intestino Delgado/patologia , Masculino , UltrassonografiaRESUMO
Modern radiological imaging provides precise diagnosis in congenital heart disease (CHD). The most important and readily available radiological examination is still chest radiography. The diagnostically most important imaging method is echocardiography. Magnetic resonance imaging and computed tomography have gained much ground over the more invasive cardiac catheter angiography, which is still needed in more complex conditions and for interventional procedures, which are performed more frequently. This article is focused on imaging of the neonatal heart. Basically, characteristics of the chest radiograph in CHD are illustrated. To establish an understanding of CHD haemodynamics are reviewed. It is not the role of the radiologist to make a detailed anatomic or physiologic diagnosis on the basis of a plain film, but the radiologist should be aware of changes in a neonatal chest X-ray that CHD can cause and should point out that the child might have CHD thus initiating further work-up.
Assuntos
Cardiopatias Congênitas/diagnóstico por imagem , Radiografia Torácica , Cianose/diagnóstico por imagem , Cianose/etiologia , Ecocardiografia , Cardiopatias Congênitas/complicações , Humanos , Recém-Nascido , Interpretação de Imagem Radiográfica Assistida por Computador , Radiografia Torácica/métodosRESUMO
Autosomal recessive polycystic kidney disease (ARPKD) is the most common pediatric renal cystic disease with liver involvement. The vast majority of patients with ARPKD carry mutations in the recently characterized PKHD1 gene on chromosome 6p12. A Turkish female demonstrated rapid growth of both kidneys after delivery. Accelerated growth of both kidneys and increasing respiratory distress necessitated right-sided nephrectomy at the age of three months. Because of persistent dyspnea and ongoing growth of the remaining kidney, the second kidney also had to be removed one month later. Biopsies taken from the kidney and the liver confirmed the diagnosis of ARPKD histologically. Renal ultrasound of the patient's consanguineous parents and her older brother showed normal results. PKHD1 mutation analysis yielded a novel homozygous missense mutation (c.1116C >G, F372L) in exon 14, coding for an Ig-like domain (TIG), possibly involved in the increased growth of the kidneys. Peritoneal dialysis was performed for 12 months. The patient had successful transplantation at the age of 15 months and is doing well with actual immunosuppression with cyclosporine, mycophenolate mofetil, and prednisolone. In conclusion, the present case clearly demonstrates the favorable outcome of a child with severe ARPKD after bilateral nephrectomy, pre-emptive dialysis, and successful transplantation.
Assuntos
Transplante de Rim/métodos , Rim Policístico Autossômico Recessivo/genética , Rim Policístico Autossômico Recessivo/terapia , Receptores de Superfície Celular/genética , Pré-Escolar , Análise Mutacional de DNA , Progressão da Doença , Feminino , Homozigoto , Humanos , Rim/metabolismo , Rim/patologia , Mutação de Sentido Incorreto , NefrectomiaRESUMO
A 12-year-old Turkish girl suffered from abdominal pain located in the right lower abdomen for 3 weeks. Ultrasound revealed palisade-like swelling of the mucosa in the ileum. Gastrointestinal biopsy showed incipient granulomas in the stomach and moderate fibrosis of the terminal ileum. Subsequently, bilateral hilar adenopathy and an abnormal level of serum angiotensin-converting enzyme were detected. The relevance of paediatric sarcoidosis mimicking Crohn's disease is discussed.
Assuntos
Doença de Crohn/diagnóstico , Sarcoidose/diagnóstico , Criança , Doença Crônica , Doença de Crohn/patologia , Diagnóstico Diferencial , Feminino , Gastrite/etiologia , Granuloma/etiologia , Humanos , Linfonodos/patologia , Peptidil Dipeptidase A/sangue , Sarcoidose/complicações , Sarcoidose/patologia , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Early diagnosis of ovarian torsion is mandatory to avoid common complications. Sonography is the imaging modality of choice, but diagnosis is still a challenge. OBJECTIVE: To report an additional sonographic feature of ovarian torsion in order to improve diagnostic accuracy. MATERIALS AND METHODS: Grey-scale and colour Doppler pelvic sonography was performed in 12 patients with acute onset of intermittent lower abdominal pain and in 1 asymptomatic patient with a palpable mass in the labium majus. Patient ages ranged from 4 months to 17 years. RESULTS: In all patients an enlarged ovary with peripheral cysts was demonstrated. High-resolution sonography detected fluid-debris levels within these cystic structures in 11 of the 13 patients (sensitivity 85%) and provided an additional diagnostic sign. Six patients had cystic teratoma. CONCLUSIONS: We confirm the fluid-debris level as a pathognomonic sonographic sign of ovarian torsion with or without associated teratoma.
Assuntos
Cisto Folicular/diagnóstico por imagem , Doenças Ovarianas/diagnóstico por imagem , Folículo Ovariano/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Folículo Ovariano/patologia , Anormalidade Torcional/diagnóstico por imagem , Ultrassonografia Doppler em CoresRESUMO
BACKGROUND: Oesophageal atresia and tracheo-oesophageal fistula (TOF) in neonates and young infants is routinely diagnosed using frontal and lateral chest radiographs in the former and fluoroscopic studies in the latter. OBJECTIVE: The aim of the study was to assess whether a combination of mediastinal and abdominal sonography can be used for the diagnosis of these anomalies in paediatric patients. MATERIAL AND METHODS: Sonography was performed in 16 neonates (age range 1-20 days; mean 4 days) with radiologically confirmed oesophageal atresia or isolated TOF. A small volume of saline solution was instilled into the blind upper oesophageal pouch to document its extension. RESULTS: Sonography identified 11 neonates with the most common type of oesophageal atresia (type IIIb), one patient with type II and one with type IIIa anomaly. The length of the upper pouch and the features of its wall were clearly documented in all cases. In one case, two upper TOF were first diagnosed by mediastinal sonography and later confirmed by fluoroscopy. In two of three cases with isolated TOF, the fistula could be located sonographically by detecting moving air bubbles. In all cases the position of the aortic arch, as well as associated malformations, could be documented during a single US examination. CONCLUSIONS: These results indicate that mediastinal sonography is a useful tool for the diagnosis of oesophageal atresia and, if air bubbles can be detected, isolated TOF.
Assuntos
Atresia Esofágica/diagnóstico por imagem , Fístula Traqueoesofágica/diagnóstico por imagem , Abdome/diagnóstico por imagem , Ar/análise , Atresia Esofágica/classificação , Feminino , Fluoroscopia , Humanos , Recém-Nascido , Masculino , Mediastino/diagnóstico por imagem , UltrassonografiaRESUMO
BACKGROUND: Pediatric regional anesthesia has gained increasing interest over the past decades. The current study was conducted to investigate the lumbar paravertebral region and the lumbar plexus at L3-L4 and L4-L5 by means of sonography to obtain fundamentals for the performance of ultrasound-guided posterior lumbar plexus blocks. METHODS: Thirty-two children (12 boys, 20 girls) with American Society of Anesthesiologists physical status I or II were enrolled in the current study. The lumbar paravertebral region was visualized at L3-L4 and L4-L5 on two corresponding posterior sonograms (longitudinal, transverse). The lumbar plexus had to be delineated, and skin-plexus distances were measured. In a series of five pediatric patients undergoing inguinal herniotomy, ultrasound-guided posterior lumbar plexus blocks at L4-L5 were performed. RESULTS: The children were stratified into three age groups (group 1: > 3 yr and = 5 yr; group 2: > 5 yr and = 8 yr; group 3: > 8 yr and = 12 yr). The lumbar plexus could be delineated at L3-L4 and L4-L5 in 19 of 20 cases in group 1, in 17 of 20 cases in group 2, in 22 of 24 cases at L3-L4 in group 3, and in 16 of 24 cases at L4-L5 in group 3. In all patients, the lumbar plexus was situated within the posterior part of the psoas major muscle. Skin-plexus distances showed statistical significant differences between groups 1 and 3 and between groups 2 and 3. The strongest positive correlation existed between skin-plexus distances and the children's weight. Ultrasound guidance enabled safe und successful posterior approaches to the lumbar plexus, thus resulting in effective anesthesia and analgesia of the inguinal region. CONCLUSIONS: Sonography of the lumbar plexus in children proved to be feasible. Skin-plexus distances correlated with the children's weight rather than with their age. The sonographic findings were fundamental for the performance of successful ultrasound-guided posterior approaches in a small group of pediatric patients.
Assuntos
Raquianestesia , Plexo Lombossacral/diagnóstico por imagem , Envelhecimento/fisiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Hérnia Inguinal/cirurgia , Humanos , Masculino , Agulhas , Pele/diagnóstico por imagem , UltrassonografiaRESUMO
Fetal pelvicaliceal dilatation due to ureteropelvic junction obstruction is the most common cause of antenatal hydronephrosis; it rarely leads to a spontaneous rupture resulting in urinoma formation. Antenatal intervention has been recommended only in those cases of large urinomas that seem to interfere with the function of other organ systems (eg, pulmonary hypoplasia secondary to diaphragmatic elevation). We report the case of a fetal intervention (transuterine puncture) in a unilateral massive hydronephrosis leading to a perirenal urinoma and the preterm birth of a female infant. Postnatally, mechanical ventilation and oxygen were required, as was forced percutaneous urinoma drainage. Evaluation revealed a fistula formation between the perirenal space and the kidney's collecting system, possibly due to the fetal intervention. Unfortunately the kidney function was very poor, and surgery to remove the impaired kidney and the urinoma was performed. We discuss the possible effects of fetal intervention in cases of obstructive uropathy and the postnatal risks associated with it.
Assuntos
Doenças Fetais/terapia , Hidronefrose/terapia , Nefrectomia , Punções/efeitos adversos , Obstrução Ureteral/terapia , Adulto , Feminino , Doenças Fetais/etiologia , Humanos , Hidronefrose/etiologia , Recém-Nascido , Nefropatias/etiologia , Gravidez , Recidiva , Obstrução Ureteral/complicações , Fístula Urinária/etiologiaRESUMO
We observed the Joubert syndrome (JS) associated with bilateral morning glory disk anomaly and cystic dysplastic kidneys in three patients from a consanguineous kindred. Homozygosity mapping excluded three JS candidate loci as sites harboring the disease gene. We thus delineate an autosomal recessive disorder, distinct from JS and related conditions.
Assuntos
Disco Óptico/anormalidades , Doenças do Nervo Óptico/genética , Doenças Renais Policísticas/genética , Adulto , Cerebelo/anormalidades , Pré-Escolar , Consanguinidade , Feminino , Homozigoto , Humanos , Masculino , Meningocele/genética , Linhagem , Gravidez , Transtornos Psicomotores/genética , Transtornos Respiratórios/genética , SíndromeRESUMO
OBJECTIVE: The purpose of this article is to review the incidence and sonographic appearance of cerebrospinal fluid leakage after lumbar puncture in the neonatal period. Thirty-three neonates underwent spinal sonography after diagnostic lumbar puncture. A total of 21 of these patients showed cerebrospinal fluid leakage into the epidural space extending from the level of the cauda equina to the lumbar (n = 9), the thoracic (n = 8), or the cervical (n = 4) region. In eight patients, the subarachnoid space was markedly compressed by the epidural fluid collection. CONCLUSION: Cerebrospinal fluid leakage into the epidural space is a frequent complication of lumbar puncture in neonates and has a characteristic appearance on sonograms. Leakage after lumbar puncture must be differentiated from cerebrospinal fluid leakage due to perinatal meningeal injury. If cerebrospinal fluid leakage at the puncture site compresses the subarachnoid space, sonography assists in the performance of subsequent lumbar puncture.
Assuntos
Líquido Cefalorraquidiano , Espaço Epidural/diagnóstico por imagem , Punção Espinal , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Estudos Prospectivos , Coluna Vertebral/diagnóstico por imagem , UltrassonografiaRESUMO
Congenital lung cysts such as congenital cystic adenomatoid malformation, pulmonary sequestration, congenital lobar emphysema, and bronchogenic cysts are rare but fascinating anomalies of lung development. While there are many similarities in terms of their presenting features, there are particular differences between the diagnostic groups that are important to highlight, especially in relationship to approaches to imaging and long-term outcome. A case of each entity is presented with an emphasis on the contemporary approach to diagnostic investigations and therapeutic options.