Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis. Some observations suggest that these dominant mutations induce a gain-of-function effect on the channel. Here, we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with dominant mutations in PIEZO2. These siblings also displayed deficits in proprioception and touch sensation. Whole-exome sequencing performed in the three affected siblings revealed the presence of a rare homozygous variant (c.2708C>G; p.S903*) in PIEZO2. This variant is predicted to disrupt PIEZO2 function by abolishing the pore domain. Sanger sequencing confirmed that all three siblings are homozygous whereas their parents and an unaffected sibling are heterozygous for this variant. Recessive mutations in PIEZO2 thus appear to cause a progressive phenotype that overlaps with, while being mostly distinct from that associated with dominant mutations in the same gene.

Tetralogy of Fallot: Preoperative assessment with MR and CT imaging.

Tetralogy of Fallot has a broad anatomical spectrum. In mild forms of the condition the obstruction is only located in the right ventricular infundibulum, whereas in severe forms the pulmonary valve is atretic, the pulmonary arteries are absent and the lung is supplied by aorto-pulmonary collateral arteries. Surgical management differs from conventional surgery in the former situation, whereas in the latter it is complex and requires reconstruction of the pulmonary arteries (unifocalization) carried out in more than one stage and with a high morbidity rate. The key factors to establish before corrective surgery are the levels and degree of obstruction of the right ventricular outflow tract, the development of the pulmonary arteries and the presence of collateral arteries. The main role of magnetic resonance imaging along with that of computed tomography angiography are discussed and illustrated.

The place of interventional radiology in Crohn disease in children.

The interventional radiologist plays an important role in the treatment of complicated Crohn disease in children. Interventional radiology includes percutaneous drainage of abscesses and insertion of suitable intravenous lines. A multidisciplinary approach is mandatory for the management of these patients.

Fetal urinoma: two new cases and a review of the literature.

OBJECTIVE: To evaluate the functional prognosis of kidneys affected prenatally by urinomas. METHODS: This was a retrospective review of cases of fetal urinoma reported in the literature, as well as two of our own cases. RESULTS: Twenty-three patients with a prenatal diagnosis of urinoma (five bilateral) were included in the analysis. Postnatal ipsilateral renal function was observed in only six of the 28 renal units (i.e. around 20%). CONCLUSIONS: Although the precise causes of urinomas are still unknown, this review shows that in the event of a fetal urinoma, the probability of a non-functional dysplastic ipsilateral kidney lies at around 80%. In-utero puncture only appears to be justified in cases where fluid accumulation has mass effects on adjacent major structures.

Fetal magnetic resonance imaging in the prenatal diagnosis of cerebellar hemorrhage.

We report the case of a fetus with a sonographic mid-gestation diagnosis of hyperechogenic cerebellum suspected to be of hemorrhagic origin on fetal brain magnetic resonance imaging (MRI). No etiological factors for fetal hemorrhage were found other than a maternal heterozygocity for factor V Leiden. Following termination of the pregnancy, autopsy confirmed the prenatal diagnosis of massive cerebellar hemorrhage without underlying vascular anomaly. As an additional tool to ultrasonography, fetal brain MRI can affirm the hemorrhagic origin of hyperechogenic cerebellar lesions, especially by showing a high signal on T1-weighted images.

Prenatal prognosis of congenital diaphragmatic hernia using magnetic resonance imaging measurement of fetal lung volume.

OBJECTIVES: To investigate the correlation between fetal lung volume (FLV), measured with magnetic resonance imaging (MRI), and postnatal mortality in newborns with prenatally diagnosed isolated congenital diaphragmatic hernia (CDH). METHODS: In a 4-year prospective multicenter study, 77 fetuses with isolated CDH diagnosed between 20 and 33 weeks' gestation underwent fast spin-echo T2-weighted lung MRI. These MRI-FLV measurements were compared with a previously published normative curve obtained in 215 fetuses without thoracoabdominal malformations and with normal ultrasound biometric findings. FLV measurements were correlated with postnatal survival. The mean gestational age at MRI was 31.3 weeks. RESULTS: The measured/expected FLV ratio was significantly lower in the newborns with CDH who died compared with those who survived (23.6 +/- 12.2 vs. 36.1 +/- 13.0, P < 0.001). When the ratio was below 25%, there was a significant decrease in postnatal survival (19% vs. 40.3%, P = 0.008). Survival was significantly lower for neonates when one lung could not be seen by fetal MRI compared with those fetuses with two visible lungs on MRI (17.9% vs. 62.1%, P < 0.001). CONCLUSION: In isolated CDH, FLV measurement by MRI is a good predictor of postnatal mortality due to pulmonary hypoplasia.

Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases.

BACKGROUND AND PURPOSE: Pericallosal lipomas are rare tumors. Few reports have included their imaging characteristics. Furthermore, little is known about their evolutive course. Our purpose was to describe the imaging features of seven cases of pericallosal lipoma diagnosed in utero and followed up after birth. METHODS: We reviewed seven cases of pericallosal lipoma diagnosed by obstetric sonography (n = 7) and examined by fetal MR imaging (n = 5). Analysis of the complementary findings provided by fetal MR imaging was conducted. All findings were correlated with the postnatal imaging and clinical findings. RESULTS: Obstetric sonography easily showed the pericallosal lipoma in all seven patients. In one, however, it was misinterpreted as intracranial hemorrhage. The morphology and integrity of the underlying corpus callosum were less easy to assess by using sonography. Fetal MR imaging confirmed the fatty content and location of the lesion in all five cases. It showed the choroidal extension in two patients and the type of associated callosal anomaly in another patient better than did sonography. In two patients, the lipoma grew, as revealed by subsequent postnatal MR imaging. The results of the neurologic examinations remained normal for the five surviving patients at a mean follow-up of 3 years (1 month-9 years). CONCLUSION: Obstetric sonography is able to easily show pericallosal lipoma. Fetal MR imaging may be useful to characterize the lipomatous nature and the extension of the lipoma and the status of the corpus callosum. Long-term follow-up is necessary to understand the clinical consequences of such lesions.

Fetal lung volume: estimation at MR imaging-initial results.

PURPOSE: To plot normal fetal lung volume (FLV) obtained with fast spin-echo magnetic resonance (MR) images against gestational age; to investigate the correlation between lung growth and fetal presentation, sex, and ultrasonographic (US) biometric measurements; and to investigate its potential application in fetuses with thoracoabdominal malformations. MATERIALS AND METHODS: In a prospective multicenter study, 336 fetuses suspected of having central nervous system disorders underwent fast spin-echo T2-weighted lung MR imaging. Data obtained at 21-38 weeks gestation in 215 fetuses without thoracoabdominal malformations and with normal US biometric findings were selected for an FLV normative curve. FLV measurements obtained at pathologic examination with an immersion method were compared with MR FLV measurements in 11 fetuses. MR FLV values in 16 fetuses with thoracoabdominal malformations were compared with the normative curve. RESULTS: Normal FLV increased with gestational age as a power curve; the spread of values increased with age. Interobserver correlation was excellent (R(2) = 0.96). FLV measurements at MR imaging were 0.90 times those at pathologic examination. A constant ratio (0.78) between FLV on the left and right sides was observed. No significant difference in FLV was observed between fetal presentations. Normal FLV was observed in all fetuses with cystic adenomatoid malformations and in four of six with oligohydramnios. Lowest FLV values were observed in fetuses with diaphragmatic hernia. CONCLUSION: In fetuses with normal lungs, FLV distribution against gestational age is easily assessed in utero with fast spin-echo T2-weighted MR imaging. These preliminary findings illustrate the potential for comparing FLV measurements in fetuses at risk of lung hypoplasia with normative values.

MRI spectrum of cortical malformations in tuberous sclerosis complex.

The diagnostic and prognostic value of magnetic resonance imaging in the tuberous sclerosis complex has increasingly been recognized. In this paper, we review the presumed pathogenesis of the cerebral dysgenesis seen in this condition in the light of magnetic resonance imaging features of selected patients. In addition to typical findings related to tubers, we show and discuss varied cortical malformations (from simple localized cortical dysplasia to transmantle dysplasia and schizencephaly) similar to those seen in sporadic cerebral dysgenesis. These cases support the hypothesis that the tuberous sclerosis complex focally affects the radial glial-neuronal complex as a basic unit for brain development. Abnormal stem cells would create dysplastic glia and neurons that fail to differentiate, proliferate, migrate and form a normally organized cortex.

Sporadic case of trichorhinophalangeal syndrome type III in a European patient.

Trichorhinophalangeal syndrome type III (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984 in Japanese patients, one sporadic case [Sugio and Kajii, 1984: Am. J. Med. Genet. 19:741-753,1984] and two families [Niikawa and Kamei, 1986: Am. J. Med. Genet. 24:759-760; Nagaï et al., 1994: Am. J. Med. Genet. 49:278-280], and more recently in a Turkish family [Itin et al., 1996: Dermatology 193:349-352]. We report an additional observation in a patient of European descent, who presented with short stature, cone-shaped epiphyses, sparse hair, a pear-shaped nose, normal intelligence and severe brachydactyly. Neither parent had manifestations of TRP and there was no other reported case in the family, indicating a presumably fresh mutation. Our observation refines the clinical spectrum of TRP III in another ethnic background and may be of help in identifying the gene or genes for TRP syndromes.

A pilot study for identifying at risk thyroid lesions by means of a decision tree run on clinicocytological variables.

Fine-needle aspiration biopsy (FNAB) is safe, inexpensive, minimally invasive, and highly accurate in the diagnosis of nodular diseases of the thyroid. However, FNAB does not provide a reliable benign versus malignant diagnosis for 100% of the cases analysed. It is possible to increase the accuracy of the cytological diagnosis by means of information contributed by different clinical variables. In the present study we evaluate the diagnostic value of 10 variables in addition to FNAB on a series of 218 specimens for which we obtained histological diagnoses including 37 cancers (17%). The diagnostic information contributed by these variables was analyzed by means of the Decision Tree technique, an artificial intelligence-related method which forms part of the Supervised Learning algorithms. The results show that Decision Trees enable some subpopulations of patients with uncertain FNAB results to be characterized.

Renal sinus hyperechogenicity in acute pyelonephritis: description and pathological correlation.

This paper reports on the association between renal sinus hyperechogenicity and acute pyelonephritis. The medical records and imaging studies of 18 children displaying this pattern were retrospectively studied. Thickening of the renal pelvis and renal enlargement were the most frequent associated sonographic abnormalities. Further subtle findings can be found on sonography and colour/power Doppler. Their identification can help in the diagnostic approach to acute pyelonephritis and may obviate the need for other imaging modalities such as enhanced CT or 99mTc-DMSA scintigraphy. Renal sinus hyperechogenicity was also identified in a parallel study performed in female rabbits with experimental pyelonephritis and was shown, histologically, to be related to exudates of fibrin and polymorphonuclear leukocytes, interstitial oedema and micro-abscesses.

[The contribution of imaging in dentistry and oral medicine]. / Apports de l'imagerie en dentisterie et stomatologie.

This article discusses the new trends since 1991 in imaging modalities in dentistry and stomatology with special attention for computed tomography, ultrasonography and magnetic resonance imaging.

MR imaging of fetal cerebral anomalies.

BACKGROUND: Prenatal diagnosis of fetal brain anomalies relies mainly upon ultrasonography. However, even in the most experienced hands, the technique has limitations for some difficult diagnoses. MRI is an excellent imaging modality for the paediatric and adult brain. OBJECTIVE: To assess the value of prenatal MRI when a cerebral anomaly was detected by US and where the prognosis depended on the identification of other anomalies undetectable by US, or where fetuses were at risk for a CNS lesion even when the US was normal. MATERIALS AND METHODS: Four hundred prenatal MRI examinations were performed since 1988, and confirmed by postnatal follow-up or pathological examination. Two-thirds of the examinations were performed after 25 weeks of gestation, one-third between 21 and 26 weeks. Fetal immobilisation was obtained by maternal premedication with flunitrazepam, administered orally 1 h before the examination. The examinations were performed on 1.5 T scanners using one or two surface coils. RESULTS: Prenatal MRI allowed the diagnosis of serious unsuspected lesions such as neuronal migration disorders, ischaemic and haemorrhagic lesions and the abnormalities observed in tuberous sclerosis. It helped to characterise ventricular dilatation and anomalies of the corpus callosum and of the posterior fossa. CONCLUSIONS: MRI is a valuable complementary tool when prenatal US is incomplete, doubtful or limited. Prenatal MRI is particularly useful for the detection of ischaemic and haemorrhagic lesions, neuronal migration disorders and tuberous sclerosis lesions. Detection of these associated anomalies worsens the fetal prognosis, has medico-legal implications and modifies obstetric management. Normal prenatal MRI does not exclude an anomaly.

Fetal endocardial fibroelastosis: ultrasonographic findings in two cases.

EFE is a rare cardiac disorder with poor prognosis and uncertain cause. Primary and secondary forms have been described. Most authors consider that all EFE is secondary--a reactive process set off in the endocardium by stress on the myocardium. We report two cases representing the primary dilated form and the secondary contracted form. The dilated form was associated with intracavitary thrombus of the left ventricle. In both cases, an unusual presence of subendocardial calcifications was noted. The ultrasonographic findings are discussed.

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.

Anomalies of fetal development in GK rats.

Fetal development was investigated in Goto-Kakizaki (GK) rats. Between days 15 and 20 after identification of a positive sperm plug, the GK rats gained less weight than control animals. The number of conceptuses in each litter was not significantly different in control and GK rats. The incidence of abortive fetal development, however, averaged 39.7% +/- 9.1% in GK rats, compared with only 5.6% +/- 0.2% in control animals. The placental weight in living fetuses was slightly lower in GK rats than control rats. The crown-rump length was identical in the fetuses of control and diabetic mothers. The number of ossification points in the lumbosacral spine, pelvic girdle and anterior and posterior limbs was significantly lower in fetuses of GK rats than control animals. These anomalies could not be blamed on a lower plasma insulin concentration in GK than control animals, whether before or during (days 15-20) pregnancy. Moreover, in both control and GK rats, the insulinogenic index was raised during pregnancy. These findings indicate that GK rats represent a new model for the study of diabetes-related fetal anomalies, their pathogenesis and prevention.