Biomedical subjects
Publications and source records attributed to M Grünebaum.
Brachmann-de Lange syndrome is a well-described congenital disorder. Skeletal anomalies and respiratory infections are its hallmarks. To the known imaging signs, the authors add tracheomegaly, which has not been reported so far.
Liver candidiasis is characterised by small abscesses spread throughout the organ at random. These lesions may be identified sonographically. In the active phase of the disease, hepatomegaly is seen together with the "wheel in wheel" phenomenon, the "wagon wheel" appearance and/or the "bull's eye" lesion. Later on, hypoechoic defects develop. When the echogenic foci are revealed, the healing phase is initiated. These manifestations are demonstrated in 4 pediatric oncology patients. The sonographic patterns as well as its differential diagnosis from primary liver tumors, metastatic infiltrations or other abscess formations are discussed.
The use of GD-DTPA was introduced recently for MR imaging of the body. This paper presents our experience with GD-DTPA enhanced MRI in the evaluation of neuroblastoma in children. The characteristics of the tumor-enhancement are described, its contribution to the diagnosis and the follow-up of this disease are discussed.
We describe an infant with cerebro-oculo-facio-skeletal manifestations, radiologic and pathologic findings of osteopetrosis, and severe myopathic degeneration proven on histopathologic study of muscles. The muscle changes appear to be part of the pathogenetic process in this syndrome and the cause of the flexion contractures present at birth. Real-time ultrasonography may prove a useful tool in prenatal diagnosis of this syndrome.
Intussusception in older infants is manifested by bloody stools, colicky abdominal pain and a palpable abdominal mass. In neonates the symptoms are often restricted to vomiting, guaiac positive stools and abdominal distension. These symptoms closely mimic necrotising enterocolitis. Surgical treatment of necrotising enterocolitis should be postponed until perforation of the gastrointestinal tract has occurred, whereas, prompt surgical treatment is recommended for intussusception. We report a case of intussusception that simulated necrotising enterocolitis in a 740 grammes premature infant in the second week of life. The clinical and radiographic features are described and the difficulty in distinction between the two conditions is emphasised. Neonatologists and paediatric surgeons should always include intussusception in the differential diagnosis of abdominal distension and guaiac positive stools in small premature infants.
A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born to healthy, consanguineous parents. The mode of inheritance is compatible with that of an autosomal recessive disorder. The identification of this variant is important, as it enables more precise counselling in families in which sporadic cases with this form of presentation are found.
The great vessels' interspace, in the pediatric retroperitoneum, deserves special attention during abdominal sonographic examination. By rotating the child into the right anterior oblique position, the full length of this interspace is demonstrated. Normally, it has a uniform appearance. When invaded by disease, the sonographic pathology can be identified and differentiated from the surrounding structures. The studies were gathered from experience with 1658 retroperitoneal sonographic examinations. Fourteen children were found with disease involving the great vessels' interspace: 4 patients with lymphoma, 3 patients with sympathetic ganglioneuroblastoma, 2 patients with retroperitoneal rhabdomyosarcoma, and one case each, respectively, of adrenal neuroblastoma, Wilms' tumour, clear cell carcinoma of the kidney, retroperitoneal teratoma and Toxocara canis.
Primary nocturnal enuresis (PNE) is a common paediatric problem of multifactorial aetiology. Growth and skeletal maturation were studied in 35 otherwise healthy children with PNE, 26 boys and 9 girls aged 6-14 years, and comparison was made with a control (CTR) group of 19 boys and 3 girls aged 6-13 years of similar ethnic origin. There was no significant difference between the mean height and weight centiles of the two groups. Bone age (BA) determined by the TW-2 method showed a significant lag behind chronological age (CA); the CA-BA difference being 1.46 +/- 1.56 years in the PNE group and -0.08 +/- 0.8 years in the CTR group (P less than 0.001). In 11 of the PNE group (31%) the BA retardation was greater than 24 months: in 4 it was between 24 to 36 months and in 7 the difference was greater than 36 months. In all these children T4 and TSH were found to be normal. It is hypothesised that the retarded bone age in children with PNE may reflect delayed maturation of regulatory CNS functions.
Ultrasonography of submandibular masses in infancy may be performed during the acute phase of the disease, rapidly providing information about the mass. Further steps in management follow as illustrated by our infant with submaxillary sialadenitis and a non-opaque calculus.
Pyloric atresia is a congenital anomaly manifested by gastric outlet obstruction. The radiographic signs are characterised by the presence of the gas-bubble sign, the pyloric dimple sign and the absence of the beak sign. The differential diagnosis of these signs is discussed in view of other gastric outlet obstructions. Ultrasonography is of value in demonstrating the absence of the normal echo pattern of the pyloric muscle and the pyloric canal, thus confirming the diagnosis of pyloric atresia, or even may replace the fluoroscopy of the upper gastrointestinal tract.
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Nonpyogenic discitis (NPD) is diagnosed on radiograms by the demonstration of the narrow disc-space with involvement of the adjacent vertebral bodies, and with radioisotope--by showing the increased uptake at the same level. Four phases are recognised in the development of the imaging changes. The isotope scan is important, especially in the latent phase of the disease when the radiograms are still negative. Radiologists are urged to consider the possibility of NPD in any child with vague abdominal, leg or back complaints whose origin cannot be ascertained. The experience of imaging diagnosis in five children is described and the differential diagnosis is discussed.
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The major complication in the acute form of infantile spinal muscular atrophy is the aspiration phenomenon, due to the pharyngo-laryngeal deficit. The radiographic findings of this deficit are characterized by epipharyngeal regurgitation, hypopharyngeal distention, good function of the cricopharyngeal sphincter and absence of epiglottic closure during the act of deglutition. The differential diagnosis of other neuromuscular entities is discussed in view of two documented radiographic cases.
A newborn infant with craniofacial dysmorphism and polysndactyly (Greig's Syndrome) is reported. This syndrome is manifested by postaxial polydactyly of the fingers and preaxial polydactyly of the toes, with syndactyly. The craniofacial dysmorphism is characterized by frontal bossing and other variable manifestations. X-ray examination revealed markedly advanced bone age. The mode of inheritance appears to be autosomal dominant.