Rothmund-Thomson syndrome and osteosarcoma.

The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors describe an association with malignancy. We report three cases of Rothmund-Thomson syndrome associated with osteosarcoma. After cutaneous epithelioma, osteosarcoma is the most frequent malignancy. Thus, patients with RTS need a careful survey. The treatment did not differ from sporadic osteosarcoma. Chemosensitivity and toxicity are also not different.

Probable disseminated cerebral aspergillosis: recovery with medical treatment.

Cerebral aspergillosis has a very poor prognosis. When this complication occurs in the immunocompromised host, evolution is virtually fatal in all cases despite surgical and medical treatment. We describe in this report the case of a child with acute lymphoblastic leukaemia who developed pulmonary aspergillosis, and subsequent cerebral dissemination during therapeutic induction. Due to multifocal cerebral lesions, surgery was impossible. The patient was administered long term treatment including amphotericin B, flucytosine and itraconazole for 9 months, during which time a neutropenic period occurred with reactivation of cerebral mycotic lesions, in spite of modification of antileukaemic therapy. Seven years later, he nevertheless remains in complete remission without any neurological sequelae. Thus cerebral aspergillosis requires early diagnosis and can be treated using a strong combination of antimycotic drugs (amphotericin B, flucytosine and itraconazole) on a long term basis, even when aspergillomas cannot be removed surgically. Antileukaemic therapy must be concomitantly adapted to avoid or limit neutropenia.

[Precocious puberty revealing Bourneville tuberous sclerosis]. / Puberté précoce centrale révélatrice d'une sclérose tubéreuse de Bourneville.

BACKGROUND: Benign tumors are seen in tuberous sclerosis. They are found in many organs, and the precocious puberty due to hypothalamic hamartoma and tuberous sclerosis has been reported. However, precocious puberty exceptionally reveals the tuberous sclerosis. CASE REPORT: A 2 month-old boy was admitted because of the fortuitous discovery of polycystic renal disease. Precocious puberty developed at 13 months with enlargement of the penis and testes, appearance of pubic hair, acne and deepening of the voice. Linear growth was recently accelerated and the bone maturation was advanced. Plasma testosterone was elevated (460 ng/100 ml) and LH-RH injection induced rapid rises in plasma LH (2.6 to 28 mUl/ml) and FSH (2 to 8 mUl/ml). Brain imaging techniques (CT scan and NMR) showed a hypothalamic hamartoma and periventricular calcified lesions. Examination with the Wood lamp identified two white leaf macules in the dorsal area. Administration of an analogue of LH-RH effectively reduced the manifestations of precocious puberty. CONCLUSION: Tuberous sclerosis is exceptionally revealed by precocious puberty. The association of polycystic disease and precocious puberty has never before been reported in tuberous sclerosis.

Anatomical study of five prenataly diagnosed sternopagus twins.

Among conjoined twins (1 out 50000 births), thoracopagus occurs most frequently and is generally lethal. Our anatomical study of five sets of sternopagus twins (3 female, 2 male) was performed to determine the ability of prenatal sonography to detect these anomalies. Autopsy in four cases revealed identical malformations: common sternum, single malformed heart, joined hepatic parenchyma, and a common small bowel leading to a cystic dilatation situated on the ileal segment at the end of the superior mesenteric artery. The diagnosis of conjoined twins was made in all cases by prenatal sonography at the mean time of 24.6 gestation weeks (range 19-34). The malformations detected by prenatal sonography were a single cardiac mass (all cases), joined hepatic parenchymas (3 cases), and an ileal cystic dilatation (1 case). Pregnancy was terminated in four cases. In one case cesarean delivery was performed, and the infants died 48 hours later. Prenatal sonography currently seems to be the best examination for diagnosis of sternopagus twins and the detection of lethal malformations thus allowing interruption of pregnancy.

MRI evaluation of the levator ani muscle: anatomic correlations and practical applications.

A comparative study of serial anatomic sections in the transverse, frontal and sagittal planes with corresponding MRI sections of the pelvis allowed the authors to define the most suitable sectional planes and MRI modes for a morphologic study of the levator ani muscle. This study shows the value of MRI examination in the assessment of anorectal malformations.

[Torsion of normal adnexa in children]. / Les torsions d'annexe saine chez l'enfant.

Seven cases of torsion of normal uterine adnexa are reported in children aged 4 to 15 years. In one case diagnosis was made by ultrasonography, allowing conservative treatment under coelioscopy. In the 6 other cases the necrosis of the ovary required its excision. The torsion concerned the ovary and uterine tube in 6 cases and the uterine tube alone in one. In 2 cases, the apparently healthy contralateral ovary was enlarged. From this series, the authors review the clinical and ultrasonographic features of the torsion of normal uterine adnexa. Ultrasonography should be performed in emergency as the conservation of the ovary depends on the precocity of diagnosis and treatment.

[Lateral tracheal indentation or compression by the brachiocephalic arterial trunk in children]. / Empreinte ou compression trachéale latérale due au tronc artériel brachio-céphalique chez l'enfant.

Three cases of compression of the right wall of the trachea by buckling of the innominate artery in childhood are described. A coarctation of the thoracic aorta is associated in two cases, and a left cervical aortic arch in the third one. In one case, a severe tracheomalacia occurs following the surgical repair of the associated coarctation. This lateral indentation of the trachea is suggestive of right aortic arch but the absence of posterior oesophageal indentation excludes the diagnosis. Angiography is helpful and echography is unable to demonstrate the vascular origin of the tracheal compression. The authors analyse the correct diagnostic approach, emphasize the risk of tracheomalacia and the high rate of associated cardio-vascular malformations.

[Prenatal diagnosis of pulmonary hypoplasia camptodactyly syndrome. Hypothesis concerning the origin of hydramnios]. / Diagnostic prénatal du syndrome hypoplasie pulmonaire camptodactylie. Hypothèse concernant l'origine de l'hydramnios.

Camptodactyly and pulmonary hypoplasia syndrome was described for the first time in 1974. Today 15 cases have been found. None were subject to a prenatal diagnosis as any ultrasonography. The case we observe is a 27 years old woman, third gestation, showing a polyhydramnios at 25 weeks of gestation. The ultrasonographic examination showed deformation with a rounded abdomen, a narrow thoracic frame slightly concave, no gastric picture and hands in constant flexion. After elimination of the V.A.T.E.R.' syndrome the camptodactyly's syndrome with pulmonary hypoplasia was proposed. Because of the lethal character of this syndrome, the abortion was realised. The photos of the fetus were the same as the ultrasonographic pictures during the prenatal diagnosis. The absence of intrinsic (paralysis) or extrinsic (compression) movements of the fetus is very important in the genesis of "deformations". The severity of the deformities depends on the importance of akinesia.

[Injuries of the liver in children. Review apropos of 30 cases]. / Les traumatismes du foie chez l'enfant. Revue à propos de 30 observations.

Between 1970 and 1983, 30 children have been treated for a liver trauma. 16 were from 5 to 10 years old. 6 had solitary hepatic lesions and 24 had visceral or polytraumatic associated lesions. All but one were operated and 27 underwent an emergency laparotomy. Superficial tears and subcapsular hematoma were found in 11 cases while penetrating wounds (14), vascular injuries (3) and ruptures (2) represent 2/3 of the whole lesions. In five cases, hepatectomy was necessary. Half of the 6 deaths result of a vascular injury, the others of the associated lesions. We have a resolutely surgical behavior when collapse or polyvisceral lesions are patent, while in isolated blunt injury a single clinical and echographic follow up is justified. A CT scan is necessary when a penetrating wound is suspected completed with an angiography.

[Seckel's syndrome (or bird's head dwarfism). Apropos of a case]. / Le syndrome de Seckel (ou nanisme à tête d'oiseau). A propos d'une observation.

A 13-year-old boy presented with Seckel's syndrome, still called bird's head nanism, characterized by: --nanism, mental retardation, microcephaly, and protrusio of the middle third of the face. The typical facial appearance enabled a detailed study to be conducted of both clinical and radiological features, including, particularly, an architectural and structural analysis of profile teleradiographic images, providing objective data on the craniofacial deformities. Skeletal and systemic anomalies are also described, together with elements documented in the literature but absent in the present case. The etiology of this syndrome remains unknown.