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.

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.

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.

[Improvement in the informativeness of diuretic kidney function scintigraphy by calculation of a washout index]. / Verbesserung der Aussagekraft der Diuresenierenfunktionsszintigraphie durch Berechnung eines Auswaschindexes.

Diuresis renography after administration of 123I-(131I-)Hippuran of 248 patients (492 kidneys) were compared retrospectively with clinical findings, history, i.v. urography, and ultrasound examinations. A new wash-out-index was calculated. In cases with obstructive dilatation of the collecting system this index was smaller than 0.9. If it was 0.9 to 1.2 additional diagnostic procedures seem necessary. An index more then 1.4 excludes obstruction. The shape of the renogram curve after furosemide is important for the diagnosis too. A concave shape was found in non-obstructive dilatation, a convex shape in obstructive dilatation of the renal pelvis. The wash-out-index is a reliable parameter if cases with reflux, lower ureteral obstruction and shrunken kidneys are excluded.

Teratoma of the umbilical cord. Case report with review of the literature.

Teratomas of the umbilical cord are very rare lesions. We found only five cases in the literature from 1887 to 1993, the latest reported in 1985. We report a case of a 10 x 7 x 5-cm mass located just at the end of an omphalocele in the umbilical cord of a full-term baby. The mass exhibited something like a cranial and a caudal pole, and tissues of all three germinal layers could be found, but there were no skeletal structures. Therefore, this lesion was diagnosed as a teratoma of the umbilical cord. We review the literature and discuss the relationship between the teratoma of the umbilical cord and the holoacardius amorphus.

Gastrocolic fistula in a 7 week old: a rare complication after gastric perforation.

There are few reports of gastrocolic fistula in infancy. Our observations on the clinical course of this condition are presented. The diagnostic possibilities and surgical procedure are discussed.

Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.

We present a female patient with laryngeal anomalies, tracheostenosis and pre- and postaxial polydactyly. Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (OFD) type II syndrome. Three similar cases of OFD syndrome with hypoplasia of the larynx, epiglottis and/or trachea without tibial dysplasia have been previously reported by Silengo and Temtamy and McKusick. The present patient adds one more case to this group of variants of OFD syndrome. We believe that those cases may be considered to form a separate subentity of OFD syndromes although overlapping features within the different subtypes make a precise classification very difficult.

Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome.

We had the opportunity to investigate the early abnormalities of the eyes in a family with osteoporosis-pseudoglioma syndrome. This syndrome combines severe premature osteoporosis with a bilateral eye disorder, leading to early onset blindness. Using colour doppler imaging in the 4-month-old girl from this affected family we demonstrated persistent hyperplastic primary vitreous in both eyes. Her brother's eyes had developed a partially calcified undefined mass. Our observation supports the hypothesis, that the disease gene may encode a matrix protein expressed in bone and eye.

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.

[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.

[Tuberculous otitis media and mastoiditis in 2 children]. / Tuberkulöse Otitis media und Mastoiditis bei zwei Kindern.

One hundred years ago Robert Koch discovered tuberculous bacilli in tuberculous tissue. Since then the tuberculous disease has shown decreasing frequency, due to the specific antibiotics (Streptomycin since 1944) and to the BCG-Vaccination (Calmette and Guerin, 1921; vaccinations since 1948). This leads to difficulties in diagnosing the disease, especially in extrapulmonary forms (present in about 1:7 cases). One must consider also that about 40% of new diseases occur in the first 5 years of life and 80% in the first 14 years [9]. We report on two children with tuberculous otitis/mastoiditis in whom the lung disease was subsequently discovered. In one of the cases the mother died of tuberculous meningitis a few days after the specific otitis had been diagnosed in the child.

[The use of midodrin in the treatment of the orthostatic syndrome (author's transl)]. / Die Behandlung des Orthostasesyndroms mit Midodrin. Eine klinische Prüfung seiner Wirksamkeit mit Hilfe des Orthostaseversuches im Doppelblindverfahren.

Midodrin, a new alpha-mimetic drug, has been studied with respect to its therapeutic effectiveness in children suffering from orthostatic hypotension. The study was carried out as a double blind trial against placebo. A statistically significant improvement was found only in relation to the following symptoms: "tendency to collapse", "dizziness", "headache", "change of colour". Blood pressure- and ECG alterations within the framework of the Schellong orthostatic and functional test were not significantly different statistically. This might be due to the small number of patients examined, to a placebo-effect or perhaps due to the inconsistent findings inherent in this last test.