Ultrasound to Evaluate Neonatal Spinal Dysraphism: A First-Line Alternative to CT and MRI.

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.

Gastric lactobezoar - a rare disorder?

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.

Uterus didelphys with unilateral vaginal atresia: multicystic dysplastic kidney is the precursor of "renal agenesis" and the key to early diagnosis of this genital anomaly.

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.

Takayasu arteritis in children and adolescents.

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.

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

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.

Segmental bowel-wall thickening on abdominal ultrasonography: an additional diagnostic sign in Kawasaki disease.

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.

Imaging the neonatal heart--essentials for the radiologist.

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.

Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.

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.

Juvenile sarcoidosis presenting as Crohn's disease.

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.

Fluid-debris level in follicular cysts: a pathognomonic sign of ovarian torsion.

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.

Sonographic evaluation of oesophageal atresia and tracheo-oesophageal fistula.

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.

Lumbar plexus in children. A sonographic study and its relevance to pediatric regional anesthesia.

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.

Prenatal puncture of a unilateral hydronephrosis leading to fetal urinoma and postnatal nephrectomy.

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.

Cerebrospinal fluid leakage after lumbar puncture in neonates: incidence and sonographic appearance.

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.

Congenital cystic lung disease: diagnostic and therapeutic considerations.

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.

Using orbital sonography to diagnose and monitor treatment of acute swelling of the eyelids in pediatric patients.

OBJECTIVE. Clinical signs of acute erythematous swelling of the periorbital region may be related either to benign superficial inflammation or to the more severe and potentially life-threatening condition of orbital infection. CONCLUSION.