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Biomedical subjects

Laurent Garel

Publications and source records attributed to Laurent Garel.

At least 19 recordsLinked to original sources

Recurrent pancreatitis in mitochondrial cytopathy.

Diabetes mellitus and exocrine insufficiency are the commonest pancreatic manifestations of mitochondrial diseases. In contrast, pancreatitis has rarely been described in mitochondrial syndromes. We report on a patient with Kearns-Sayre syndrome and recurrent episodes of acute pancreatitis for which no explanation could be found other than the associated mitochondrial dysfunction. Interestingly, pharmacological disruption of mitochondrial metabolism in various models as well as in patients can cause pancreatitis, further supporting this association. A diagnosis of pancreatitis should be considered in any patients with mitochondrial disease and recurrent abdominal pain.

Acute Disease↗

Perinatal assessment of hereditary cystic renal diseases: the contribution of sonography.

The aims of this review article were to clarify the steps that may lead to a proper diagnosis of fetal and neonatal renal cystic diseases. All the hereditary cystic diseases are reviewed and a classification is proposed. The various sonographic patterns that can be used to ascertain the diagnosis are also reviewed. Finally, tables with differential diagnoses are presented to help the reader in the work-up of such pathologies.

Female↗

The role of cardiac magnetic resonance in the diagnosis of anomalous pulmonary venous return with subsequent Amplatzer device treatment.

We report the case of a young girl with a mixed total anomalous pulmonary venous return (cardiac and supracardiac) treated sequentially by partial neonatal surgery, and then catheterization at age 19 with installation of an Amplatzer device as a treatment of the remaining anomaly. We describe the usefulness of magnetic resonance imaging in both the diagnosis and follow-up of this anomaly.

Adult↗

Imaging characteristics of two subtypes of congenital hemangiomas: rapidly involuting congenital hemangiomas and non-involuting congenital hemangiomas.

BACKGROUND: Common infantile hemangiomas (COMMON) occur in approximately 10% of infants by the age of 1 year, with a female predominance. Some hemangiomas can be fully developed at birth and are thus called congenital hemangiomas (CH). Within this population, two courses have been identified: rapidly involuting CH (RICH) and non-involuting CH (NICH). Little has been reported on the clinical prognosis and imaging features of these entities. OBJECTIVE: To describe the imaging characteristics of two subtypes of CH, i.e. RICH and NICH, and to compare them with COMMON. MATERIALS AND METHODS: We retrospectively gathered data on 26 children presenting with CH, i.e. lesions fully developed at birth. These lesions were divided into two groups according to the clinical course: suspected RICH (n=8) and suspected NICH (n=18). We used US, CT or MRI and angiography to identify the gross anatomy and structure and the vascularization. Imaging findings were compared with the clinical course and pathology results, when available. The imaging findings in these patients were compared retrospectively with those in 26 patients with COMMON randomly chosen from the database of our multidisciplinary clinic. RESULTS: When compared with COMMON imaging characteristics, NICH and RICH had distinctive features on US such as being heterogeneous (72% of NICH and 62.5% of RICH vs 42.3% of COMMON), visible vessels (72% of NICH and 62.5% of RICH vs 15.4% of COMMON), calcifications (17% of NICH and 37.5% of RICH vs no case of COMMON). On CT and/or MRI, we compared imaging features such as well-defined limits (67% of NICH and 60% of RICH vs 100% of COMMON), and fat stranding (29.4% of NICH and RICH vs 7.7% of COMMON). CONCLUSION: Distinctive imaging characteristics are observed in cases of CH with US findings of visible vessels and calcifications statistically significant.

Adolescent↗

Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia.

BACKGROUND: In patients with impalpable testes,laparoscopy or open surgery is considered conclusive in establishing the absence of testicular tissue. METHODS: Retrospective chart review. RESULTS: Over a 22-year period, 4 out of 82 patients with a diagnosis of bilateral anorchia by laparoscopy or laparotomy had persistent testicular tissue suggested by endocrine evaluations. The clue to the presence of testicular tissue was: (1) a pubertal rise in plasma testosterone (2 patients); (2) the presence of possible Müllerian structures and of a detectable plasma anti-Müllerian hormone (1 patient), and (3) the fact that one of the gonads had not been seen at surgery (1 patient who still had a testosterone response to hCG postoperatively). Testes were localized by venography (3 patients) and laparotomy (1 patient). CONCLUSION: A surgical diagnosis of bilateral anorchia needs to be confirmed by hCG stimulation, gonadotropin levels, or other markers of testicular function.

Anti-Mullerian Hormone↗

Fetal hydronephrosis: is there hope for consensus?

This review article aims at summarizing the data regarding fetal and neonatal hydronephrosis, at correlating controversial data with the differences in the practice of obstetrical sonography from one country to another, and finally, at presenting our own criteria for fetal renal collecting system dilatation along with our own guidelines of postnatal investigation.

Diagnosis, Differential↗

Complications of ENT infections: pseudoaneurysm of the internal carotid artery.

Ear, nose and throat infections are common, especially in children and young adults. Since the advent of antibiotics, complications from tonsillitis and pharyngeal abscess are rare, but potentially lethal. Vascular complications can be imaged with Doppler ultrasound and CT scan. The treatment of infectious vascular complications represents a significant challenge. We describe the case of a young girl presenting with a pseudoaneurysm of the internal carotid and thrombosis of the internal jugular vein. Endovascular therapy was utilized to treat the patient.

Aneurysm, False↗

Unilobar congenital pulmonary lymphangiectasis mimicking congenital lobar emphysema: an underestimated presentation?

BACKGROUND: Congenital lobar emphysema (CLE) is characterized by unilobar alveolar distension secondary to bronchomalacia or absent cartilage. In contrast, congenital pulmonary lymphangiectasis (CPL) is defined as distended lymphatics in the bronchovascular bundle, in the interlobular septa, and in the subpleural space. Little information is available regarding the radiologic presentation of CLE as it correlates with histological diagnosis. METHODS: In a retrospective chart review from 1995 to 2002, 8 patients (5 boys and 3 girls) with clinical and radiologic diagnosis of CLE were reviewed. RESULTS: The mean age at diagnosis was 26 months (range, 11 days to 10 years). All but one had classic respiratory symptoms of CLE. Six of 7 chest computed tomography (CT), scans were suggestive of CLE. Of 8 patients, 3 were treated without pulmonary resection with resolution of symptoms. Five patients underwent lobectomies, and histology results showed CPL in 3. CT failed to identify CPL in all cases. CONCLUSIONS: Diagnosis of CLE is not as straightforward as the literature suggests. Even retrospectively, radiologic distinction between CLE and CPL could not be achieved by an experienced pediatric radiologist. CPL, thus, mimics CLE clinically and radiologically and, therefore, should be considered in the differential radiologic diagnosis of CLE.

Child↗

[Anatomic variations of the spermatic vein and endovascular treatment of left varicoceles: a pediatric series].

OBJECTIVE: To report on the high incidence of anatomical variants of the origin and course of the internal spermatic vein (ISV) discovered at the time of percutaneous embolization of left varicoceles in a pediatric population. METHODS: We reviewed retrospectively the 65 cases of left varicocele treated by percutaneous embolization (grade II and III) in our institution between 1990 and 2000. The course of the left renal vein (LRV), the origin of the ISV, and the number of ISVs and their pathway were recorded in all cases, according to the Bähren classification. RESULTS: In 37/65 (57%), the ISV was single and arose from a normal LRV (type I). The following variants were encountered: type V--circumaortic LRV 9/65 (14%); type IVb--intrarenal origin of ISV 8/65 (12%); type II--multiple ISV 5/65 (8%); and pelvic collaterals 6/65 (9%). CONCLUSION: Venous anatomical variants are frequently encountered (43%) at the time of left varicocele embolization in children. Such variants often impose some adjustments to the technique of embolization and, at times, hamper the procedure.

Adolescent↗