High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
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Biomedical subjects
Publications and source records attributed to L Guibaud.
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Intrahepatic portosystemic anastomoses are macroscopic communications between the venous portal system and the systemic circulation and located partly in the liver. We report 4 new cases of type II shunts, which illustrate the circumstances of the diagnosis of these exceptional anomalies. For 2 children, the diagnosis was done antenataly by US and spontaneous involution in a few months was observed. In the third case the malformation was evidenced fortuitously at 3 weeks of life, and this 6-year-old child remains completely asymptomatic so far. Then, in the fourth case, a cerebral venous thrombosis was fortuitously and antenatally evidenced in an otherwise uneventful pregnancy and portosystemic shunt was demonstrated postnataly in the extensive work up of the neonate.
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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.
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.
OBJECTIVE: To describe a cervical neuroblastoma revealed in the prenatal period. METHOD: We were recently confronted with a case of fetal solid neck mass suggestive of teratoma, which proved postnatally to be a neuroblastoma. Combining this case with a review of recent literature, we have evaluated the diagnostic tools required for increased precision in the prenatal diagnosis and perinatal management of fetal solid neck masses. RESULTS: Detailed ultrasound and MRI of fetal neck and liver, in conjunction with amniocentesis for measurement of homovanillic acid levels, should enable fetal medical practitioners to consider the diagnosis of fetal cervical neuroblastoma. CONCLUSION: Fetal cervical neuroblastoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck masses.
Congenital genu recurvatum (CGR) is an extremely rare condition observed at birth. It is associated with, among other malformations, genetic entities such as the Larsen syndrome. When CGR is isolated, orthopedic treatment will usually lead to a good functional prognosis. We report the first case of isolated CGR diagnosed prenatally and suspected to be a consequence of reduced amniotic fluid volume due to leakage following amniocentesis. The etiology and management options for CGR are briefly discussed.
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Bilateral internal carotid artery agenesis is an uncommon disease, difficult to differentiate from bilateral carotid artery thrombosis. A few case reports have described the contribution of conventional angiogram to make the diagnosis and recognize the anatomic details of this rare malformation. Advantages of CT angiography as a non-invasive radiologic tool are discussed in this case report.
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.
Ultrasound is a routine imaging modality that is quite valuable to assess the pediatric abdomen. The objective of this article is to describe the sonographic appearance of the pancreas and spleen in children. Our goal is to emphasize normal variants and specific pediatric diseases, even if some of them may be encountered in adults.
PURPOSE: To evaluate the role of MR Cholangiography in a pediatric population with biliary complications after liver transplantation and particularly with anastomotic stenosis. PATIENTS AND METHODS: Ten MR cholangiography studies were performed in 10 children with liver transplant who were suspected of having biliary complications between December 1996 and April 1998. The findings on MR were correlated with the results from liver biopsy, liver ultrasound, liver function tests and with clinical information when available. RESULTS: MR cholangiography identified 9 children with biliary tree dilatation, 4 with anastomotic stenosis, 5 with multiple bile ducts stenosis, 2 with stones in the intra-hepatic biliary tree and 2 with abnormalities suspicious for acute cholangitis. Three of 4 anastomotic stenoses were confirmed and treated by percutaneous cholangiography. There was no correlation between the different exams in 6 children but MR cholangiography confirmed the final diagnosis. CONCLUSION: In children with liver transplantation, MR cholangiography may be useful to evaluate and to confirm a diagnosis of bile duct complications and it is helpful in the absence of correlation between liver biopsy, ultrasound and liver function test.
We retrospectively studied the cases of 19 patients suffering from low flow vascular malformations who were treated with Ethibloc sclerotherapy. Out of 10 venous angiomas, 5 entirely disappeared, 3 considerably decreased and 2 remained unaltered. Out of 7 cystic lymphangiomas, 7 were completely cured and in the 2 other cases, outcome was quite good. Post-treatment complications consisted in a local inflammatory reaction. This reaction occurred immediately and disappeared within a few days without after-effects. It materialized as an Ethibloc exteriorization among 5 patients suffering from venous angiomas and 3 patients suffering from lymphangiomas and as an inflammatory lump for 2 venous angiomas carriers and for 4 lymphangiomas carriers. This lump was located at the puncture point of the product and it was due to some Ethibloc residue. Fourteen of these local reactions spontaneously decreased; 5 of them required a surgical operation but in all cases, after-effects were minor. These satisfactory results (volume decreasing in 90% of the malformations) as well as the mildness of the side effects encourage to use Ethibloc in the treatment of low flow vascular malformations. In our experience, Ethibloc is particularly appropriate for the treatment of large lymphangiomas.
PURPOSE: To describe the diagnostic features, appearance, and vascularization pattern of venous malformations (VMs) at Doppler ultrasonography (US). MATERIALS AND METHODS: Between February 1991 and May 1997, 51 soft-tissue VMs were studied with Doppler US in patients between 1 day and 21 years of age (mean age, 9 years). These VMs were located in the maxillofacial region (n = 19), trunk (n = 5), and upper (n = 10) and lower (n = 17) extremities. Twenty-three VMs had venographic confirmation, seven had only histologic confirmation, and 21 had both venographic and histologic confirmation. US was performed with 7.5- or 7-10-MHz linear transducers, a low pulse repetition frequency (mean, 1,680 Hz), and the lowest wall filter (25-50 Hz). RESULTS: At gray-scale US, VMs appeared as hypoechoic, heterogeneous lesions in 82% of cases. All lesions displayed compressibility. In eight lesions (16%), phleboliths were identified, thus confirming the diagnosis of VM. Analysis of vascular flow revealed monophasic, low-velocity flow in 40 VMs (78%), with an average flow velocity of 0.22 kHz. Biphasic flow was noted at the periphery of three lesions, which is indicative of a mixed capillary-venous malformation. The remaining eight lesions did not display any flow. CONCLUSION: In pediatric patients, Doppler US is a noninvasive, easily available, and rapid mode of investigation of vascular lesions and can help confirm the diagnosis of VM when it shows a characteristic flow pattern.
OBJECTIVE: The aim of this study was to compare digital and conventional radiography for diagnostic accuracy, direct costs, and quality of care. MATERIALS AND METHODS: Diagnostic accuracy was assessed by a critical review of the literature on sensitivity, specificity and ROC analysis of these imaging techniques and by a survey with a panel of radiologists. Direct costs and quality of care were evaluated with a before/after study of the implementation of digital radiography in a Department of Radiology in 'Hospices Civils de Lyon' (France). We included 292 patients and measured duration of examinations and direct costs of equipment, films, maintenance and depreciation. To evaluate any changes in working conditions and patient management, a questionnaire was filled out by the staff of the department. RESULTS: Diagnostic accuracy with digital radiography was equivalent to that of conventional radiography but there were wide variations depending on the type of examination. In 1993, although digital radiography resulted in savings of FF 18,000 including tax (US$ 3600) on film consumption for 1 year of examinations, there was a global additional cost of FF 253,000 (US$ 50,600) for maintenance and depreciation. Results showed a nonsignificant tendency to reduced procedure times for all examinations. Working conditions improved, including greater availability for the patient, improved safety, and increased job interest. CONCLUSION: Digital radiography can be introduced into a large hospital to improve patient and staff conditions, at a higher cost than analog radiography, and depending on the type of examinations performed by the radiology department.