[Diagnostic image (113). A neonate blowing bubbles. Esophageal atresia with tracheoesophageal fistula, Hirschsprung disease and suspected Down's syndrome]. / Diagnose in beeld (113). Een 'bellenblazende' pasgeborene. Oesofagusatresie met distale tracheo-oesofageale fistel, ziekte van Hirshsprung en aanwijzingen voor het syndroom van Down.

In a male neonate 'blowing bubbles', three diagnoses were seen on a combined thoracic and abdominal X-ray: esophageal atresia with tracheoesophageal fistula, Hirschsprung's disease, and suspected Down's syndrome (because of the presence of II pairs of ribs).

Doppler sonography of the anterior ascending cervical arteries of the hip: evaluation of healthy and painful hips in children.

OBJECTIVE: We evaluated the Doppler sonography of small feeding arteries to the femoral head in children. SUBJECTS AND METHODS: In a prospective study of 224 hips in 112 patients (mean age, 5 years 11 months), the anterior ascending cervical arteries of the hip were identified with color Doppler sonography. Subsequently, we measured the resistive index (RI) with pulsed Doppler sonography. RESULTS: In 61% (137/224) of hips, a Doppler signal could be obtained. In asymptomatic hips (n = 64), the mean RI was 0.58. In symptomatic hips, the definitive diagnoses and mean values of RI included transient synovitis (n = 31) and 0.92, Perthes' disease (n = 9) and 0.67, and miscellaneous (n = 5) and 0.68. In 28 symptomatic hips, no definite diagnosis could be determined and the complaints spontaneously disappeared during follow-up (mean RI, 0.57). We found no statistically significant difference in the RI of symptomatic versus asymptomatic hips, except in patients with transient synovitis (p < 0.001). In 11 hips with transient synovitis that were reexamined after 4-6 weeks, the RI returned to normal (0.57). The RI in symptomatic hips showed a positive correlation with the amount of effusion (r = 0.69, p < 0.001). In symptomatic and asymptomatic hips, we found no correlation with age (p = 0.9 and 0.1, respectively). CONCLUSION: The deep capsular vessels of the hip joint can be evaluated on Doppler sonography in more than 60% of hips. Also, the RI is age independent and correlates with the amount of effusion.

Atrophy of the quadriceps muscle in children with a painful hip.

The objective of this study was to determine the degree of muscle wasting of various components of the quadriceps muscle in children with a painful hip. Between January 1994 and September 1997, 327 consecutive children with a unilateral painful hip and/or limping were evaluated prospectively with ultrasonography. Quadriceps thickness was measured on both sides. Moreover, muscle thickness was measured in 59 control subjects. The patients were divided into eight groups; transient synovitis (n = 134), Perthes' disease (n = 35), slipped capital femoral epiphysis (n = 5), osteomyelitis (n = 4), aspecific synovitis (n = 5), rheumatoid arthritis (n = 3) and miscellaneous (n = 16). In 125 patients, no sonographic and radiological abnormalities were found and during follow-up the symptoms disappeared ('no pathology' group). Ipsilateral muscle wasting was present in all patient groups, whereas the control subjects showed no significant difference in muscle thickness between legs. The degree of muscle wasting was compared between transient synovitis, the 'no pathology' group, Perthes' disease and control subjects. For both quadriceps and vastus intermedius muscles, there was a significant difference between these groups, except between control subjects and the 'no pathology' group. For the rectus femoris muscle, there was a significant difference between these groups, except between transient synovitis and 'no pathology'. Muscle wasting showed a positive correlation with duration of symptoms and pre-existing muscle mass. In conclusion, different diseases show different degrees of muscle wasting, and there are different patterns of muscle wasting of various components of the quadriceps femoris muscle.

Anterior joint capsule of the normal hip and in children with transient synovitis: US study with anatomic and histologic correlation.

PURPOSE: To study the anatomic components of the anterior joint capsule of the normal hip and in children with transient synovitis. MATERIALS AND METHODS: Six cadaveric specimens were imaged with ultrasonography (US) with special attention to the anterior joint capsule. Subsequently, two specimens were analyzed histologically. These anatomic findings were correlated with the US findings in 58 healthy children and 105 children with unilateral transient synovitis. RESULTS: The anterior joint capsule comprises an anterior and posterior layer, mainly composed of fibrous tissue, lined by only a minute synovial membrane. Both fibrous layers were identified separately at US in 98 of 116 (84%) hips of healthy subjects and in all hips with transient synovitis. Overall, the anterior layer was thicker than the posterior layer. In transient synovitis compared with normal hips, no significant thickening of both layers was present (P = .24 and .57 for the anterior and posterior layers, respectively). Normal variants include plicae, local thickening of the capsule, and pseudodiverticula. CONCLUSION: Increased thickness of the anterior joint capsule in transient synovitis is caused entirely by effusion. There is no US evidence for additional capsule swelling or synovial hypertrophy.

US of the painful hip in childhood: diagnostic value of cartilage thickening and muscle atrophy in the detection of Perthes disease.

PURPOSE: To evaluate the combined use of several ultrasonographic (US) criteria in the detection of Perthes disease. MATERIALS AND METHODS: In a prospective study, 144 consecutive children with a painful hip underwent US. The thicknesses of the (a) anterior recess of the joint capsule, (b) cartilage of the femoral head, and (c) quadriceps muscle were assessed. Sixty-eight children with no symptoms, the control group, were also examined. RESULTS: The final diagnosis was transient synovitis (n = 58), Perthes disease (n = 21), slipped capital femoral epiphysis (SCFE; n = 5), or miscellaneous (n = 6). Fifty-four patients had no US or radiographic abnormalities, and symptoms disappeared during follow-up. The anterior recess in patients with transient synovitis was significantly wider than that in the other patients and control subjects (P < .001). Patients with Perthes disease showed significant cartilage thickening in the symptomatic hip compared with the other patients and control subjects (P < .001). Patients with Perthes disease and patients with SCFE showed significant atrophy of the ipsilateral quadriceps muscle compared with all other groups (P < .001). The combined use of these US criteria for the diagnosis of Perthes disease resulted in a positive predictive value of 95%, a negative predictive value of 95%, a sensitivity of 71%, and a specificity of 99%. CONCLUSION: The combination of several US criteria increases the diagnostic value of US of the painful hip in patients with Perthes disease.

Primary hyperoxaluria type I: renal ultrasound before and after treatment.

Three patients with primary hyperoxaluria type I received therapy consisting of vitamin B6, magnesium oxide, and high oral fluid intake. Sonographic follow-up showed a variable response to treatment, ranging from normalization of renal tissue to no change at all. However, there is evidence of a correlation between laboratory findings and ultrasound findings during treatment.

Intrapelvic Wilms' tumor simulating xanthogranulomatous pyelonephritis.

A 2-year-old boy presented with an atypical renal mass with extension into the pyelocalyceal system and distal ureter which was diagnosed initially as xanthogranulomatous pyelonephritis (XGP). The final diagnosis was intrapelvic Wilms tumor extending into the ureter. In the literature, only three patients have been described with Wilms tumor extending into the ureter, none of whom had a continuous extension into the distal ureter.

Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.

Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which they named trichoscyphodysplasia and metaphyseal acroscyphodysplasia. Although the authors agree that there is more than one bone dysplasia that presents with these distinctive radiographic knee appearances, they consider that two few cases have been reported to satisfactorily classify this group of disorders.

Idiopathic isosexual central precocious puberty: magnetic resonance findings in 30 patients.

The purpose of this prospective study was to define the incidence of magnetic resonance imaging (MRI) abnormalities in the brain in patients with idiopathic central precocious puberty without any additional neurological signs and symptoms, and to evaluate the routine use of gadolinium contrast in these patients. 30 patients (29 girls, one boy; age range 1.9-11.9 years) with idiopathic central precocious puberty were studied. MRI of the brain in axial, coronal and sagittal planes was performed before and after administration of gadopentetate dimeglumine, with special attention to the region of the third ventricle. There are three major findings: (1) the height of the pituitary gland is increased up to adult size compared with normal individuals; (2) in four patients (13%) major structural abnormalities were found; three hamartomas of the tuber cinereum and one gliomatous process extending from the chiasm to the optic tract; and (3) the routine use of gadopentetate dimeglumine did not reveal new abnormalities although the lack of enhancement made a positive contribution to diagnostic certainty. We conclude that contrast enhanced MR examination is a safe and reliable method for the exclusion of abnormalities in children with precocious puberty and for the follow-up of those patients in whom abnormalities are present.

Solomon's epidermal nevus syndrome (type: linear nevus sebaceus) and hypophosphatemic vitamin D-resistant rickets.

BACKGROUND: Epidermal nevus syndrome is very variable in symptoms and associated abnormalities. Synonyms of this syndrome are linear nevus sebaceus syndrome or Schimmelpenning-Feuerstein-Mims syndrome or Solomon syndrome. The combination with vitamin D-resistant rickets is rare and only sporadically described. Less than 10 cases with this combination of symptoms have been described in the literature. OBSERVATIONS: We describe a boy suffering from epidermal nevus syndrome (type: nevus sebaceus). This child also presented with severe rickets with hyperphosphaturia, resistant to vitamin D. Our patient was seen in consultation at birth, but after a delay of 4 years we were consulted again for a second opinion and treatment; the vitamin D-resistant rickets was recognized. Treatment with 1,25-dihydroxy vitamin D3 and phosphorus resulted in healing of rickets. Removal of parts of the tumors did not influence the rickets. This is in contrast with a formerly described case. Removal of fibroangiomas led in that case to normalization of the alkaline phosphatase, calcium, and phosphate serum levels. CONCLUSIONS: The rickets results from massive phosphate excretion by defective renal tubular reabsorption of phosphate. In all patients described, rickets developed at an early age. Clinical symptoms were marked bone abnormalities, muscle weakness, and bone pain.

Plain film diagnosis in intussusception.

In early childhood intussusception a characteristic gas pattern is often visible on plain radiographs which can be used for diagnosis. To test this hypothesis, radiographs of 163 children with intussusception, and as many controls, were reviewed. By using multivariable analysis, it appeared that five out of seven parameters (reduced amount of gas in the jejunum; lateralization of the ileum; indiscernible caecum; reduced amount of feces in the colon; and visibility of the intussusceptum) had discriminatory value. For each parameter a weighting (in points) was derived and the patients were classified: the higher the score the more likely that an intussusception was present. A sensitivity of 90% and a specificity of 90% were obtained.

Ultrasonography is accurate enough for the diagnosis of intussusception.

For more than 10 years the authors have been using ultrasonography to confirm clinically suspected intussusception without performing a contrast enema. The aim of this study is to review this diagnostic policy. Between 1980 and 1989, 163 children who, on clinical examination and plain abdominal radiographs were suspected of having intussusception, underwent ultrasonography to confirm the diagnosis. In 33 children, ultrasonography did not show intussusception; of the remaining 130 children, intussusception was diagnosed in 128. In two children in whom intussusception was noted subsequently, the diagnosis was not established on ultrasound. Thus, ultrasonography had a sensitivity of 98.5% and a specificity of 100% in the diagnosis of intussusception. It is a quick, simple, noninvasive method to diagnose intussusception, with high accuracy. The role of contrast enema is limited to therapeutic application.

Congenital arterioportal fistula of the liver with reversal of flow in the superior mesenteric vein.

We report on a newborn with a large arterioportal fistula of the liver complicated by a sudden reversal of flow in the portal and superior mesenteric vein, leading to congestion and ischemia of the small intestine. Ultrasound, duplex Doppler sonography and angiographic features are presented. Ligation of the hepatic artery led to a complete recovery.

Appendicitis caused by carcinoid tumor.

A previously healthy man had a carcinoid tumor that caused obstruction and dilatation of the appendiceal lumen, with subsequent inflammation of the appendix. He had acute pain in the lower right abdomen, loss of appetite, constipation, pyrexia, and an increased erythrocyte sedimentation rate without leukocytosis. Although his clinical signs and symptoms subsided, the persistent pathologic finding of a large dilated appendix at examination with ultrasound warranted surgery, which, with microscopy, established the correct diagnosis.

Radiographic evidence of bronchopulmonary dysplasia in high-risk congenital diaphragmatic hernia survivors.

Congenital diaphragmatic hernia is a congenital malformation associated with pulmonary hypoplasia. It often leads to respiratory failure, requiring artificial ventilation with high inflation pressures and high percentages of oxygen. We evaluated radiographic evidence of bronchopulmonary dysplasia (BPD) in survivors, who presented with respiratory distress within 6 hours after birth, by a radiographic scoring system measuring the severity of BPD by the Toce score and the degree of pulmonary hypoplasia by the Touloukian score. Fifteen of 45 survivors (33 percent) had clinical and radiological lung disease resembling BPD. As a group they had significantly higher Touloukian and Toce scores than survivors without BPD. Morbidity expressed as the duration of artificial ventilation, supplemental oxygen, and hospital stay was much higher in the BPD group. The hypoplastic lung in infants with congenital diaphragmatic hernia appears to be as susceptible to barotrauma and pulmonary oxygen toxicity as the lungs of prematurely born infants. To what extent BPD occurring in congenital diaphragmatic hernia survivors might influence the future development of lung function is not yet known.

[Ultrasonography as initial imaging study can replace roentgen studies under certain circumstances in suspected congenital hip dysplasia]. / Echografie kan röntgenonderzoek onder bepaalde voorwaarden vervangen als eerste beeldvormend onderzoek bij vermoeden van congenitale heupdysplasie.

Sonography of the infant hip is increasingly used in the investigation of congenital dysplasia of the hip (CDH). It tends to replace the radiological investigation, which was the common method up till now. In this study sonography and radiological investigation were compared for 255 patient (510 hips), who had been referred to the orthopaedic surgeon on the presumption of CDH. For the sonography the predictive value of a negative finding was 99% (95% CI: 99-100%). The predictive value of a positive finding was 87% (95% CI: 78-95%). Specificity was high: 98% (95% CI: 97-99%); sensitivity lower: 95% (95% CI: 90-100%). Our conclusion is that sonography can replace the radiological investigation if it shows a normal result, for an infant older than 3 months. Additional radiological investigation is necessary if the sonography is abnormal. For infants under 3 months of age the investigation should be repeated at the age of 3 months, at any rate in case of doubt.

Iatrogenic perforation of the lamina cribrosa by nasogastric tube in an infant.

A case of iatrogenic perforation of the lamina cribrosa, followed by intracranial placement of a nasogastric tube in a preterm neonate is described. By routine ultrasound examination of the brain an echogenic structure was seen, which was radiographically diagnosed as a nasogastric tube. The tube was manually removed under antibiotic prophylaxis. No complications were observed. The false route disappeared and long-term follow-up showed no neurological side effects.

Calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS syndrome)--a new entity?

A 4-year-old boy with subcutaneous tumours is described. These tumours were calcified and had secondary osteoma formation. In addition the patient showed poikiloderma on the face and less prominently on arms and legs. X-ray films of the distal metaphyses of the radius, ulna and tibia revealed irregular mineralisation. Repeated laboratory tests revealed no abnormalities of fat, bone and mineral metabolism. This patient showed a unique combination of symptoms. We propose to call this syndrome: COPS-syndrome (Calcinosis cutis, Osteoma cutis, Poikiloderma and Skeletal abnormalities).