Atypical presentation of a Langerhan's cell histiocytosis of the forearm in a child.

We report a case of a 2-year-old child presenting with right forearm pain. Based on imaging analysis, the initial diagnosis was osteomyelitis but the final diagnosis demonstrated by histology was Eosinophilic Granuloma (EG) of the forearm. We detail the rare radiological presentation of such a lesion, the various clinical presentations and the work-up advised in this context.

Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.

OBJECTIVES: To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys. METHODS: This was a retrospective multicenter study. We identified 93 fetuses presenting between 1990 and 2002 with hyperechogenic kidneys and which had a diagnosis of nephropathy confirmed later. We analyzed retrospectively the prenatal ultrasound findings of those fetuses which were found sonographically to have renal cysts. RESULTS: Of the 93 fetuses presenting with hyperechogenic kidneys and with a later diagnosis of nephropathy, there were 28 with autosomal dominant polycystic kidney disease (ADPKD), 31 with autosomal recessive polycystic kidney disease (ARPKD), 11 with Bardet-Biedl syndrome, nine with Meckel-Gruber syndrome, six with Ivemark II syndrome, one with Jarcho-Levin syndrome, one with Beemer syndrome and one with Meckel-like syndrome. One third of the fetuses (30/93) had renal cysts. Cystic characteristics (size, location, number) were not very useful for diagnosis; more useful was diagnosis of an associated malformation. Three (11%) of the fetuses with ADPKD had cysts, as did nine (29%) of those with ARPKD, three (27%) of those with Bardet-Biedl syndrome, all (100%) of those with Meckel-Gruber syndrome, three (50%) of those with Ivemark II syndrome, and each of the three cases with other syndromes (Jarcho-Levin, Beemer and Meckel-like syndromes). None of the cases with trisomy 13 had cysts. There were no associated malformations in the 12 cases with renal cysts and polycystic kidney disease; the other 18 cases with renal cysts were associated with malformations that were often specific, such as polydactyly in Bardet-Biedl and Beemer syndromes, occipital defect and Dandy-Walker malformation in Meckel-Gruber or Meckel-Gruber-like syndromes, and thoracic and/or vertebral abnormalities in Jarcho-Levin and Beemer syndromes. CONCLUSION: Renal cysts associated with hyperechogenic kidneys are not rare. The clue to diagnosis is the demonstration of an associated malformation. If no malformation is found, the main diagnosis remains polycystic kidney disease, i.e. ARPKD or ADPKD.

Meckel-Grüber syndrome: sonography and pathology.

OBJECTIVE: To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS). METHODS: This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included. Analysis included a detailed evaluation of the sonographic findings and comparison with pathological follow-up. RESULTS: Seventeen cases met the pathological criteria for a diagnosis of MGS and were included in the study. In all cases, a typical sonographic pattern was seen: the kidneys were enlarged (mean, + 4.8 SD) and showed unusual corticomedullary differentiation, occurring as early as the first trimester. In most cases, the medullary areas appeared excessively large and mottled due to the presence of multiple small cysts. CONCLUSIONS: The kidneys of fetuses with MGS are enlarged, cystic and have unusual corticomedullary differentiation. These features can be observed as early as the first and early second trimesters.

Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome.

OBJECTIVES: To describe an antenatal sonographic renal pattern encountered in Bardet-Biedl syndrome, a rare autosomal recessive disorder whose definitive diagnosis is often delayed, and to describe the evolution of the sonographic appearance of the kidneys after birth. METHODS: Among a large group of fetuses with hyperechoic kidneys, we retrospectively analyzed the prenatal sonographic findings and clinical and postnatal renal sonographic evolution of 11 patients who were found to be affected by Bardet-Biedl syndrome. RESULTS: All 11 fetuses presented enlarged homogeneously hyperechoic kidneys without corticomedullary differentiation. The diagnosis was established before birth in three fetuses thanks to their familial history. It was confirmed during childhood in the remaining eight based on the development of the classic features of the syndrome. In the postnatal period, the prenatal pattern persisted for a few months in all 11 cases. The sonographic aspects of the kidneys normalized in most cases between 1 and 2 years after birth. CONCLUSIONS: In affected families, the prenatal appearance of enlarged hyperechoic kidneys without corticomedullary differentiation should prompt a diagnosis of recurrence in the family of Bardet-Biedl syndrome, especially when polydactyly is present. In non-affected families, Bardet-Biedl syndrome should be included in the differential diagnosis whenever such an appearance is discovered in utero. The postnatal evolution of the renal sonographic findings is variable and normalization generally occurs by the age of 2 years.

Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study.

OBJECTIVE: To determine whether a specific prenatal sonographic pattern can be identified for autosomal dominant polycystic kidney disease (ADPKD) and if so whether it would be helpful in orienting complementary analysis, properly counseling parents and adapting pregnancy management. METHODS: A retrospective multicenter study was conducted in four prenatal diagnostic centers. The records of fetuses with a prenatal ultrasound examination revealing abnormal kidneys and with a final diagnosis of ADPKD were analyzed. Ultrasound analysis included: amount of amniotic fluid, bladder size, renal length, presence or absence of renal cysts and size of renal pelves, and was focused on parenchyma echogenicity and status of corticomedullary differentiation. Postnatal follow-up was reviewed. RESULTS: Of the 27 patients included in the study, 25 had hyperechogenic renal cortex and 20 had hypoechogenic medulla resulting in increased corticomedullary differentiation (CMD). In six cases, the medulla was hyperechogenic leading to absent or decreased CMD. One patient had normal cortical echogenicity and CMD. Renal cysts were present during the prenatal period in four patients (at 22 weeks in one case and after 30 weeks in three cases). In 12 patients, the cysts appeared after birth (within the first 6 months of postnatal life in 10 cases and by the age of 1 year in two cases). Elevated blood pressure was observed in only two cases and moderate chronic renal failure in one case. CONCLUSION: We have described the sonographic presentation in fetuses with ADPKD: moderately enlarged hyperechogenic kidneys with increased CMD. Although not specific to ADPKD, these findings should prompt familial screening. Other prenatal sonographic features (absent or decreased CMD and cortical cysts) are less frequent.

[Diagnostic imaging in non-accidental brain injuries]. / Pictorial essay. Imagerie dans les traumatismes craniens non-accidentels.

Diagnosis of nonaccidental injury (child abuse) may be difficult because most infants present with non-specific clinical findings and without external signs of trauma. Brain lesions severely disproportionate to the history of trauma, retinal hemorrhages and characteristic fractures or fractures of varying age are key indicators to child abuse when encountered in an infant. It is therefore incumbent upon the radiologist to recognize the radiologic findings of the various forms of nonaccidental injury and to correlate them with the physical findings in order to render a more accurate opinion. Craniocerebral injuries are not uncommon in infants who are physically abused and have a worse long-term outcome than accidental injuries. The particularities of the infant's skull and its content and the pathophysiology of cerebral nonaccidental injuries are remembered. The imaging findings in infants with blunt impact, shaken- and whiplash shaken-injuries are emphasized. The combination of edema, malignant hyperaemic cerebral swelling, hypoxic-ischemic brain injury, diffuse axonal injuries, and bilateral and/or interhemispheric subdural hematomas is almost typical of a shaken infant. MRI, with its multiplanar capability and its sensitivity to cytotoxic edema and to degraded hemoglobin, is the modality of choice for detecting cerebral lesions in nonaccidental injury.

The role of Doppler evaluation of the uterine artery in girls around puberty.

BACKGROUND: Presently, the only sonographic parameters used to follow puberty in girls are size and morphology of the uterus and ovaries. Doppler of the uterine artery appears a useful complementary parameter to follow puberty. OBJECTIVE: To determine the potential contribution of Doppler evaluation of the uterine artery in girls around puberty. MATERIALS AND METHODS: We investigated 61 healthy female volunteers aged 2-15 years (mean 10.3 years). In each girl we performed a standard pelvic transabdominal US examination, including measurement of the uterus and ovaries. Uterine arteries were visualized by colour Doppler and a pulsed signal was obtained in each patient. The blood flow velocity waveform was analysed and the pulsatility index (PI) was calculated. Growth of the uterus and ovaries was plotted against age, and the PI was compared to each of the other studied variables (age, size of uterus, volume of ovaries). RESULTS: We observed a strong negative correlation between the PI of the uterine artery and the usually studied variables. We also observed a progressive modification of the Doppler signal pattern of the uterine artery during the establishment of puberty: the narrow systolic flow waves found in prepubertal girls were progressively replaced by a systolic-diastolic flow wave. CONCLUSIONS: The demonstration of diastolic flow can confirm the onset of puberty.

[Gastric pneumatosis as a sign of duodenal stenosis in a child with Down syndrome]. / Pneumatose gastrique révélatrice de sténose duodénale chez un nourrisson trisomique 21.

A case of gastric pneumatosis is described in a 6 month old girl with Down syndrome. Plain abdominal radiographs showed a radiolucent rim within the gastric wall and a dilated stomach. Ultrasonography showed diffuse echoic streaks of air in the gastric wall, pneumobilia and gastroduodenal dilatation. Upper GI series showed duodenal stenosis. Gastric pneumatosis (air within the gastric wall), is an unusual radiographic finding. It may be of mechanical or inflammatory origin or, in some rare cases, remain unexplained.

[Periventricular leukomalacia in premature infants: prognostic role of ultrasonography and MRI]. / Leucomalacie périventriculaire du prématuré: rôle pronostique de l'échographie et de l'IRM.

PURPOSE: To evaluate the role of cranial US and MRI to establish the neurological prognosis of premature infants with periventricular leukomalacia (PVL). PATIENTS AND METHODS: Follow-up results of cranial US and early MRI evaluation (before 25 weeks*) of 28 premature infants were retrospectively reviewed and compared to the neurological outcome at 18 months* (*corrected age). RESULTS: Follow-up by cranial US was more sensitive (8/28) than early MRI to detect cystic PVL lesions because of the transient nature of these cysts. This has prognostic implications since all patients (8/8) with cystic PVL lesions had neurological sequelae. MRI was useful, as a complement to cranial US, for the evaluation of non-cystic PVL lesions. Indeed, patients with evidence of hemorrhage or paucity of white matter at MRI had a higher risk of neurological sequelae (9/11) than infants with echogenic periventricular white matter at US without evidence of white matter abnormality at MRI (p < 0.013). CONCLUSION: MRI was useful, as a complement to cranial US, to evaluate the prognosis of infants with non-cystic PVL lesions.

Monoamniotic twin cord entanglement. A case report with color flow Doppler Ultrasonography for antenatal diagnosis.

BACKGROUND: Monoamniotic twinning is a rare event with a high perinatal mortality rate from cord accidents. To date, only a few cases have been reported in which cord entanglement was diagnosed with Doppler ultrasonography. CASE: In a monoamniotic twin pregnancy, umbilical cord entanglement was diagnosed at 20 weeks' gestation by color flow Doppler ultrasonography. The entanglement was associated with growth discordance between the twins and subsequent death of the smaller fetus. CONCLUSION: The rarity of this condition hinders our understanding of the pathophysiology and development of management protocols.

Complete hydatidiform mole and coexisting normal fetuses. A report of two cases with contrasting outcomes.

BACKGROUND: Multiple pregnancies consisting of a complete hydatidiform mole and coexisting fetuses are relatively rare but may become more common due to the increasing use of ovulation-induction agents. CASES: We report on a twin and a triplet pregnancy, conceived using clomiphene citrate, with contrasting outcomes. The twin pregnancy resulted in a term delivery of a healthy singleton and the triplet pregnancy in a termination at 17 weeks followed by the development of choriocarcinoma. CONCLUSION: The few cases available suggest that a subgroup of complete moles follows a more benign course and can be managed conservatively, allowing the pregnancy to go to term with appropriate follow-up, whereas other cases follow a more aggressive course. Larger case series are needed to develop definitive protocols.

Can careful ultrasound examination of the urinary tract exclude vesicoureteric reflux in the neonate?

The aim of the study was to determine whether a urinary tract appearing normal when assessed by meticulous ultrasound (US) examination may coexist with vesicoureteric reflux (VUR) and whether a normal US scan can be used to exclude VUR, thereby avoiding unnecessary voiding cystourethrography (VCUG). The US features of 35 neonates with known VUR were reviewed. Criteria studied included pelvic dilatation above 7 mm on a transverse scan, calyceal or ureteral dilatation, pelvic or ureteral wall thickening, absence of the corticomedullary differentiation (CMD) and signs of renal dysplasia (small kidney, thinned or hyperechoic cortex and cortical cysts); all signs that have been shown to result from or to be associated with VUR. 57 refluxing renal units (RRU) were found among the 35 patients. VUR was bilateral in 22. Among the 57 RRU, at least one US anomaly that would have prompted VCUG was present in 50 (87.7%). Pelvic dilatation above 7 mm was present in 29 RRU (50.9%) only. Calyceal dilatation was present in 24 RRU, the dilatation involving the calyces but not the renal pelvis in seven. Ureteral dilatation was observed in 15 RRU. Pelvic or ureteral wall thickening was present in seven RRU. CMD was absent in 32 RRU (56.1%). US signs of dysplasia were found in 19 RRU. No US anomaly was found in seven RRU (12.3%) in six patients. A careful and meticulous US examination of the neonatal urinary tract allows the detection of over 87% of RRU by showing at least one sonographic abnormality. It is concluded that a normal appearing urinary tract on US does not usually coexist with VUR and that in such cases VCUG is not necessary.

The origin of vesico-ureteric reflux in male newborns: further evidence in favour of a transient fetal urethral obstruction.

OBJECTIVE: To present further arguments supporting a transient urethral obstruction occurring during early fetal development as an explanation of the origin of vesico-ureteric reflux (VUR) in baby boys. PATIENTS AND METHODS: The findings of ultrasonography and voiding cysto-urethrography (VCUG) in 25 baby boys with VUR were reviewed, studying mainly bladder and urethral anomalies on VCUG and bladder-wall thickness on ultrasonography. RESULTS: A bladder or urethral anomaly was found in 15 patients, comprising isolated posterior urethral dilatation in five, posterior urethral dilatation with a bladder anomaly in four, tubular appearance of the urethra in two and bladder neck hypercontractility with diverticulae in four. Bladder-wall thickness ranged from 1 to 8 mm (mean 3.7) and in eight patients, the thickness exceeded 5 mm. CONCLUSION: The bladder and urethral anomalies found in this series of patients with neonatal VUR could be explained by a transient bladder outlet obstruction that possibly occurred in utero. These findings support the theory that a significant number of cases of VUR seen in baby boys result from a transient fetal urethral obstruction.

Sonographic prediction of chronic lung disease in the premature undergoing mechanical ventilation.

The aims of the study are to investigate the possible role of ultrasound (US) of the chest in predicting the development of chronic lung disease (CLD) in patients with hyaline membrane disease (HMD) and to determine the optimal age for the sonographic examination. One hundred and five consecutive prematures undergoing mechanical ventilation were prospectively studied by US of the chest. The US examinations were performed at birth and at least once a week until discharge from the neonatal unit. The sonographic patterns observed behind the diaphragm and their evolutions were recorded and correlated with the clinical and radiological data at day 28, which corresponds to the currently accepted limit for determining the presence of CLD. CLD is currently defined as oxygen dependency on day 28 with radiographic abnormalities. A diffuse retrodiaphragmatic hyperechogenicity was observed in all the patients with HMD. The hyperechogenicity resolved completely in patients with an uncomplicated clinical evolution. In contrast, in patients with CLD the hyperechogenicity resolved only partially, resulting in less diffuse and less extensive hyperechogenicity. Day 18 was the earliest day where the persistence of the abnormal retrodiaphragmatic hyperechogenicity was observed in 100% of the patients presenting CLD at day 28. At that time, 95.2% of the patients without abnormal hyperechogenicity showed uncomplicated evolution and no CLD. US can be a useful diagnostic tool to determine the occurrence of CLD and to predict as early as day 18 the prematures at risk for the disease.

[Abdominal complications of ventriculoperitoneal shunts]. / Complications abdominales de shunts ventriculo-péritoneaux.

Three cases of abdominal complications of ventriculo-peritoneal shunts are reported. Abdominal pseudocysts were identified in 2 patients (surinfection was proven in one of them). Malposition of the shunt was demonstrated for the third patient. Ultrasound was the most helpful imaging technique for the detection of these abdominal complications. Abdominal computed tomography confirmed the sonographic findings before the patients were reoperated.

Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin.

Congenital bilateral perisylvian syndrome was diagnosed in a two-year- old boy with signs of pseudobulbar and diplegic cerebral palsy presenting on MRI a polymicrogyric appearance of the perisylvian regions. He was born from a monochorionic bi-amniotic twin pregnancy complicated by twin-twin transfusion syndrome and death of the co-twin between the 16th and 18th weeks of gestation. Ventricular enlargement and hepatic hyperechogenic lesions were seen during his sonographic intra-uterine follow-up. The authors suggest that ischaemic injury occurred in this patient as a consequence of acute haemodynamic changes induced by the death of his co-twin.

Antenatal diagnosis of short-limb dwarfism: sonographic approach.

Based on the findings in 12 patients with skeletal dysplasia diagnosed antenatally, the authors propose a tailored approach to the evaluation of foetuses with shortened long bones, depending on the time of discovery, the degree of shortening and the associated findings. During the second trimester, a very short femur [2 standard deviations (SD) - 5 mm and less] most probably corresponds to a bone dysplasia, although the differential diagnosis is mainly early intra-uterine growth retardation, and the foetal skeleton should be surveyed completely in order to find supplementary features suggestive of dwarfism. Anomalies of long bones in their shape, thickness or contour, or spinal ossification disorders or undermineralisation (best evaluated at the level of calvarial bones) are most helpful in determining the type of dysplasia. A short femur (between 2 SD and 2 SD - 4 mm) may indicate growth retardation, a chromosomal anomaly or dwarfism. Follow-up examinations are mandatory in order to differentiate between them. During the third trimester a very short femur may indicate a bone dysplasia and the work-up should be the same as in the second trimester. A short femur may correspond to dwarfism of late development, a growth-retarded foetus or constitutional shortness. Various ratios, especially that of the femur/foot, are helpful in differentiating between them. In case of previous family history, a short or very short femur usually indicates recurrence of the dwarfism. In all cases of antenatal diagnosis, confirmation of the sonographic findings should be obtained either by foetal or neonatal radiographs. The approach proposed by the authors should provide sufficient information to counsel the family not only for the ongoing pregnancy but also for subsequent ones.