Severe anemia in 3 toddlers with gastric lactobezoar.

BACKGROUND: Anemia in toddlers may result from many disorders including excessive feeding with cow's milk. Another sequel of age-inadequate cow's milk nutrition may be gastric lactobezoar (GLB), a dense lump of coagulated milk and mucus in the stomach. PATIENTS: 3 toddlers presented with a history of excessive intake of full cream cow's milk, abdominal distension, vomiting, dehydration, fatigue, marked pallor and tachycardia. DIAGNOSTIC WORKUP: Diagnostic imaging revea-led large GLBs as the likely origin of the abdominal symptoms. Laboratory evaluation showed severe anemia with depleted iron stores and signs of protein catabolism. Non-cow's milk-induced causes of anemia including defects of erythropoiesis, hemoglobin structure, RBC-enzymes and blood coagulation, hemolysis, immune disorders, infection, inflammation, extraintestinal hemorrhage, nephropathy were - according to the available data - unlikely to cause the anemia in our patients. Thus their anemia is thought to be due to age-inadequate cow's milk nutrition leading to 1) low intake, decreased absorption/bioavailability and increased intestinal loss of iron, and 2) GLB which induced blood loss following mechanical irritation of the gastric mucosa and vomiting causing high gastric pH and decrease in duodenal iron absorption. CONCLUSION: The anemia in our patients is due to both exaggerated feeding with cow's milk and adverse effects of GLBs. This hypothesis is supported by the finding that, after erythrocyte transfusion, iron substitution, age-adapted nutrition and GLB-dissolution, the anemia did not recur. We propose to include GLB in the differential diagnosis of anemia in cow's milk fed small children.

Spinal subdural effusion - an additional sonographic sign of child abuse.

PURPOSE: To assess the suitability of spinal ultrasound for the detection of spinal subdural hematoma in infants with sustained non-accidental trauma. MATERIALS AND METHODS: Six infants (mean age ± SD 3.3 ± 1.5 months) admitted to our hospital because of suspected non-accidental trauma were examined radiologically with ultrasound, CT and/or MRI and skeletal radiography. Twelve healthy infants (mean age ± SD 2.5 ± 1.4 months) in whom an ultrasound of the spine was performed to exclude spinal dysraphism served as controls. RESULTS: All six patients with non-accidental trauma (NAT) presented with cranial subdural hematoma visualized by ultrasound and CT scan or MRI. Spinal ultrasound detected echogenic effusions with floating particles that displaced the undulating arachnoidea from the dura mater spinalis in all six patients with NAT. The size of the spinal subdural hematoma varied and extended from the cervical spine to the cauda equina. The anatomic landmarks (dura mater spinalis, arachnoidea spinalis) were identified and confirmed the subdural location. All spinal subdural hematomas were asymptomatic and detected by diagnostic ultrasound. None of the infants had a pre-existing neurological or hemorrhagic disorder. The plain X-rays of the spine in these infants showed no osseous lesion. Spinal subdural hematoma was not observed in any of the controls. CONCLUSION: The presence of spinal subdural hematoma is a valuable sign of sustained non-accidental trauma in infants that can be quickly and easily detected using spinal ultrasound without the need for sedation or general anesthesia. Thus, spinal ultrasound should be part of the imaging examinations performed in infants with suspected abuse.

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.

Nievergelt syndrome (NS) is an autosomal dominant mesomelic dysplasia characterized by specific deformities of the radius, ulna, fibula and a rhomboid shape of the tibia. Phenotypically overlapping conditions such as mesomelic dysplasia, Savarirayan-type (MIM 605274), have been described, but their pathogenesis also remains unknown. We report on a girl with fibular agenesis, severely abnormal, triangular tibiae, urogenital tract malformations, failure to thrive, convulsions and recurrent apnoeas leading to respiratory arrest at the age of 4 months. Her skeletal findings correspond to those of the mesomelic dysplasia, Savarirayan-type recently described in two patients. In addition to the skeletal findings, our patient had central nervous system manifestations and developmental anomalies of the urogenital tract. In the patient described in this study, array comparative genomic hybridization (CGH) analysis revealed a de novo interstitial microdeletion of 500 kb on chromosome 2q11.1 containing the LAF4/AFF3 (lymphoid-nuclear-protein-related AF4) gene. In situ hybridization analysis of Laf4 in mouse embryos revealed expression in the developing brain, in the limb buds and in the zeugopod corresponding to the limb phenotype. Haploinsufficiency for LAF4/AFF3 is associated with limb, brain and urogenital malformations and specific changes of the tibia that are part of the NS spectrum.

Spinal sonography in newborns and infants - part II: spinal dysraphism and tethered cord.

UNLABELLED: Patients with cutaneous markers in the lumbo-sacral region as well as infants with bladder and bowel dysfunction, orthopedic anomalies and progressive neurological dysfunction are at risk for spinal dysraphism and tethered cord. Three types of spinal dysraphism can be distinguished: Type I - open spinal dysraphisms with a non-skin covered back mass; type II - closed spinal dysraphisms with a skin covered back mass; type III - occult spinal dysraphisms without a back mass. All spinal dysraphisms can be associated with a tethered cord, characterized by a low position of the conus medullaris below L3. Type I dysraphisms are meningomyeloceles and myeloceles, which are associated with CHIARI-II malformations characterized by the low position of the cerebellar vermis within the foramen magnum. Type II dysraphisms are lipomyeloceles, lipomyelomeningoceles, posterior meningoceles and myelocystoceles. Lipomeningoceles and lipomyelomeningoceles are characterized by a subcutaneous echogenic mass which communicates with the spinal canal and may cause tethered cord. Posterior meningoceles are, dorsal cystic space occupying lesions without internal neural tissue. Myelocystoceles are characterized by a cystic dorsal mass which communicates with a dilated central canal characteristic of syringo-hydromyelia. Type III dysraphisms without a back mass are frequently associated with cutaneous markers in the lumbo-sacral region. Sonographically dermal sinus tracts, diastematomyelia, tight filum and lipoma of the filum terminale and the caudal regression syndrome have to be distinguished. Dermal sinuses are characterized by an echogenic tract from the skin to the spinal canal, often associated with a spinal dermoid. Diastematomyelia is characterized by a complete or partial duplication of the spinal cord which can only be shown on axial images. Tight filum terminale or lipoma of the filum terminale is characterized by a thick echogenic filum with a diameter of more than 2 mm, and a conus below L3. CONCLUSION: All different forms of spinal dysraphisms and tethered cord can be diagnosed sonographically in the neonatal period as long as the spinal arches are not completely ossified.

Spinal sonography in newborns and infants--Part I: method, normal anatomy and indications.

Spinal sonography can be performed in newborns and young infants as long as the vertebral arches are not completely ossified. With high resolution linear transducers (>10 MHz), excellent detailed images of the spine may be obtained from the base of the skull to the caudal end of the thecal sac. Sagittal and axial sections are performed routinely. Beside the spinal cord, the dorsal and ventral nerve roots and the cauda equina can be shown. The medullary conus normally ends above the level of L2/L3. Lower positions are suspective of tethered cord. M-mode sonographic examinations reveal oscillations of the cord due to respiration and the pulse cycle. Colour Doppler sonography displays the epidural venous plexus as well as the central branches of the anterior spinal artery. Normal variants are transient widening of the central canal, terminal ventricle and asymmetric nerve roots. Indications for spinal sonography are midline cutaneous markers in the lumbosacral region, subcutaneous masses, foot abnormalities, anorectal and genitourinary malformations and neurological abnormalities of the lower extremities. All these clinical symptoms are suspicious of spina bifida occulta and tethered cord which should be ruled out by spinal sonography.

Conjoined epigastric heteropagus twins: excision of a parasitic twin from the anterior abdominal wall of her sibling.

Epigastric heteropagus twins (EHT) are an exceedingly rare form of asymmetric conjoined twins in whom the dependent twin (parasite) is attached to the right or left upper abdomen of the dominant part (autosite). Such a case observed at our institution with 34 month follow-up is presented here and the surgical technique described. A magnetic resonance imaging (MRI)-supported surgical separation of the parasite with successful closure of the abdominal wall defect of the autosite was performed. Follow-up studies showed an autosite which was alive and in optimal health. A comprehensive review including data from English and non-English literature is presented.

Bilateral renal vein thrombosis in a twin newborn without known risk factors.

Neonatal renal vein thrombosis (RVT) is associated with neonatal stress, catheters and genetic prothrombotic risk factors. In an unusual case of bilateral RVT a twin newborn showed initial good adaptation at birth (weight 2,720 g). The placenta was monochorionic, diamnionic. The infant (gestational week 37) exhibited a severe macrohematuria within 24 hours after birth. Sonography of the kidneys showed a dense cortical parenchyma, loss of cortico-medullary differentiation and negative diastolic flow in both renal arteries and veins, while no thrombus in the main renal veins could be detected. No prothrombotic blood parameters and positive infection serology were detected. Because of acute renal failure peritoneal dialysis was necessary for 6 weeks. The patient was treated by heparinization for 5 days. Interestingly, it was kidney biopsy which confirmed the diagnosis of RVT in addition to the clinical presentation, whereas sonography was unspecific. Histology exhibited the picture of an ischemic contracted kidney with numerous siderophages. At present (age 19 months), the patient suffers from chronic renal failure (calculated glomerular filtration rate according to Schwartz 12 ml/min/1.73 m2). In conclusion, our case teaches that, despite the lack of a clinically obvious shock event, absence of known risk factors and indirect ultrasound findings, renal vein thrombosis should be considered in a macrohematuric newborn with renal failure. For clinical suspicion of RVT correct therapy was initiated, however, the diagnosis remained unclear until a renal biopsy was performed.

[Fetal genitourinary anomalies Perinatal and postnatal management with imaging techniques]. / Fetale Harntraktveränderungen Peri- und postnatales bildgebendes Management.

Improvements in ultrasound technology and the appropriate timing of antenatal ultrasound has led to refined prenatal diagnosis and enhanced accuracy of diagnosis of fetal renal anomalies and makes it possible to treat obstructive and/or refluxing uropathies before the onset of clinical symptoms. The third trimester renal sonography is the most important to detect hydronephrosis amenable to treatment.Classically, the prenatal diagnosis of hydronephrosis, unilateral renal agenesis, or MDKD initiates postnatal investigations, including sonography, voiding cystourethrography (VCUG), and isotopic renography. The exact degree of renal pelvic dilatation that requires full postnatal investigation is still not entirely resolved. Most authors accept the upper limit of 7 mm for the AP diameter of the renal pelvis. The US examination should be performed after the physiological dehydration period, namely 3-5 days after birth, in an urgent case on the 1st day. A meticulous ultrasound examination performed by a physician who is familiar with the renal abnormalities shows the whole extent of underlying pathology. The role of MR urography in the work-up of renal anomalies, particularly of hydronephrosis, is currently being investigated. Due to the close developmental relationship of the urinary and genital tracts, malformations frequently occur in both of these systems. Therefore in all patients, especially in girls with renal anomalies (unilateral renal agenesis, multicystic dysplastic kidney disease), the internal genitalia need to be evaluated.

Ultrasound of female genital anomalies.

Congenital anomalies of the female genital tract result from müllerian duct anomalies and/or abnormalities of the urogenital sinus or cloaca. Due to the close developmental relationship between the genital and the urinary tracts, association of anomalies in both systems are common. This article reviews the appearance of developmental anomalies of the female urinary and genital tracts and points out common associated malformations to allow an early and complete sonographic assessment of affected infant.

[Sonographic diagnosis of congenital dacryocystocele]. / Sonographische Diagnose kongenitaler Dakryozystozelen.

AIM: Congenital obstruction of the nasolacrimal drainage system occurs quite commonly. The reason is usually an impaired canalization at the distal end of the nasolacrimal duct with a residual membrane between the duct and the nasal cavity. Dacryocystocele is believed to result from a concomitant upper and lower system obstruction, causing fluid accumulation and distension of the lacrimal sac. The patient presents at birth with a tense, blue-grey swelling located just below the medial canthal tendon. The differential diagnosis for dacryocystocele includes haemangioma, encephalocele, glioma, dermoid cysts and malignant processes. MATERIAL AND METHODS: We demonstrate five typical cases to describe the sonographic features of dacryocystocele. RESULTS: Ultrasound is a simple, straight forward and gentle method to reliably distinguish dacryocystoceles from other pathologies. A sedation of the patient is not necessary. The sonographic appearance of a cystic mass medial and inferior of the orbit communicating with the dilated nasolacrimal duct as well as the typical content of fluid and debris was diagnostic of a nasolacrimal mucocele or dacryocystocele. Other more invasive imaging techniques as CT-scans and MRI are of benefit only if there is any doubt about the diagnosis.

[Diagnostic imaging in acute neurological status in childhood]. / Bildgebende Diagnostik neurologischer Akutsituationen im Kindesalter.

The diagnostic imaging of children with acute, non-traumatic, neurologic symptoms enables a fast and non-invasive localization and diagnosis. A spectrum of typical disorders will be described dependent on the location of neurologic symptoms (central, spinal, or peripheral nervous system). Different non-invasive imaging modalities e.g. US with colour-coded doppler, CT, MRI are utilized dependent on age of the patient and neurologic symptoms. The purpose of this article is to describe the spectrum of diagnostic imaging for each of these common disorders.

Diagnosing neonatal female genital anomalies using saline-enhanced sonography.

OBJECTIVE: The purpose of this article is to show the usefulness of sonography in diagnosing genital anomalies early in female neonates who have unilateral renal malformations. Our patients were three female neonates with renal anomalies that had been detected in utero. We performed sonography of the inner genitalia of each girl after filling the vagina with saline solution. In two patients with multicystic dysplastic kidney disorder, the examination revealed uterus didelphys with obstruction of one of the vaginas. Sonographic examination of the third patient showed Gartner's duct cyst with renal agenesis. CONCLUSION: The neonatal period provides a unique opportunity to use sonography to detect uterine anomalies because maternal and placental hormone stimulation increases the size of the uterus. Simultaneous intravaginal saline instillation during imaging further improves the radiologist's ability to diagnose genital malformations precisely. This procedure is a simple, sensitive, and inexpensive examination method that is useful in imaging female neonates with renal dysplasia or agenesis detected in utero or in the neonatal period. Its particular value is to further characterize a cystic mass posterior to the bladder that is seen at transabdominal sonography.

Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature.

Many pathologic fractures, lumps on the head, elevated serum alkaline phosphatase (ALP) levels, and dental caries are the main characteristics of the rare autosomal dominantly inherited calvarial "doughnut lesions" (MIM 126550). We report the sporadic case of a 16-year-old patient who has had 10 pathologic fractures between age 6 weeks and 15 years. An elevated serum ALP level was found at age 11 and skull lumps at age 15; radiography showed frontal and parietal round radiolucencies surrounded by sclerotic bone comparable to doughnuts. Magnetic resonance imaging (MRI) showed skull lesions at an early stage. Because the findings are reminiscent of osteogenesis imperfecta (OI), collagen types I, III, and V were analyzed in fibroblasts and shown to be normal in terms of quantities, proportions, electrophoretic mobility, and thermostability. Thus, this rare syndrome can be distinguished from OI by collagen analysis and MRI of the skull at an early stage, even before palpable skull lesions appear.

US of the spinal cord in newborns: spectrum of normal findings, variants, congenital anomalies, and acquired diseases.

Ultrasonography (US) of the spinal cord is performed in newborns with signs of spinal disease (cutaneous lesions of the back, deformities of the spinal column, neurologic disturbances, suspected spinal cord injury due to traumatic birth, and syndromes with associated spinal cord compression). The examination is performed with high-frequency linear- and curved-array transducers in the sagittal and axial planes from the craniocervical junction to the sacrum. Normal variants such as transient dilatation of the central canal and ventriculus terminalis can be demonstrated with US. US allows detection of congenital malformations, such as myelocele or myelomeningocele, spinal lipoma, dorsal dermal sinus, tight filum terminale syndrome, diastematomyelia, terminal myelocystocele, lateral meningocele, caudal regression syndrome, and hydromyelia or syringomyelia. Acquired intraspinal diseases following birth trauma and transient alterations after lumbar puncture can also be detected with US. US can demonstrate the entire spectrum of intraspinal anatomy and pathologic conditions with high geometric resolution. Therefore, US should be considered the initial imaging modality of choice for investigating the spinal cord in newborns.

[Sonography of the central nervous system in prematures and newborns]. / Sonographie des Gehirns und Rückenmarks bei Früh- und Neugeborenen.

UNLABELLED: Examination of the central nervous system in premature and full-term infants requires a sensible selection of the available diagnostic procedures such as ultrasound, MRI and CT to allow sufficient and accurate diagnosis and management. ULTRASOUND: Ultrasound, including the various Doppler techniques, is a very reliable, safe, noninvasive diagnostic tool that allows evaluation of even severely ill patients in intensive care units. It is especially well suited for the study of intracranial hemorrhage, hypoxic-ischemic encephalopathy, congenital malformations of the brain and lesions produced by intrauterine and acquired infections. Sonography is also very reliable in examination of spinal dysraphism and spinal cord injuries during birth. The necessity of surgical intervention (i.e. shunt implantation) as well as subsequent postoperative follow-up can be provided. MRI: In contrast to ultrasound, MRI is most useful to demonstrate the age-dependent myelinization pattern and clearly discriminates between the white and gray matter of the central nervous system. We therefore use MRI for the detection of complex malformations of the central nervous system in particular disorders of cell migration and for a final estimation of a perinatal brain injury. CONCLUSION: A precise ultrasound examination performed by an experienced physician who is familiar with the expected pathology and has access to a well-adjusted ultrasound machine should help to minimize the use of confirming CT and MRI investigations and to optimize their optional use in more complex cases.

Azygos continuation of the inferior vena cava: sonographic demonstration of the renal artery ventral to the azygos vein as a clue to diagnosis.

OBJECTIVE: The purpose of this report is to describe the relationship between the renal artery and the azygos vein in patients with congenital infrahepatic interruption of the inferior vena cava with azygos continuation. CONCLUSION: Using abdominal sonography, we showed that in patients with interruption of the inferior vena cava with azygos continuation, the renal artery is ventral to the azygos vein. Because this malformation is frequently associated with cardiac and situs anomalies, awareness of the anatomic relationship between the renal artery and the azygos vein can aid in diagnosis and may substitute for more expensive and invasive diagnostic procedures.