Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation.

Half of patients with the Dandy-Walker malformation (DWM) have normal intellectual development. We aimed to identify feature on MRI associated with good intellectual prognosis. We reviewed 20 patients with DWM diagnosed on MRI, mean age 14.6+/-9.9 years. We assessed their intellectual development and related it to the MRI features. We found two groups with a statistically different intellectual outcome. All 14 patients with normal intellectual development had a normal lobulation of the vermis, without supratentorial anomalies. Of the six patients with mental retardation, three had an abnormal vermis, together with dysgenesis of the corpus callosum. In the other three, there were normal vermian anatomy with associated anomalies. Normal lobulation of the vermis, in the absence of any supratentorial anomaly, appears to be a good prognostic factor in DWM. Preservation of cerebrocerebellar pathways and neonatal plasticity could explain the normal intellectual development. These findings might be useful in prenatal diagnosis.

[Melorheostosis associated with arteriovenous malformation of the ear]. / Mélorhéostose associée à une malformation artério-veineuse de l'oreille.

BACKGROUND: Melorheostosis is a rare bone dystrophy that may be associated with various vascular malformations. We report a case of arteriovenous fistulae of the ear associated with melorheostosis limited to the same side of the body. CASE REPORT: A 13 year-old boy presented a congenital port-wine nevus of the right side of the head complicated by an arteriovenous fistulae and angiomatous nodules of the ear. He was treated by laser, surgery of the nodules, arterial embolisations and sclerotherapy. In 1999, he had a benign trauma of the right hand. The X-ray showed hyperostosis resembling wax flowing down a candle reaching the carpus and some of the metacarpals and the phalanges of the right hand, typical of melorheostosis. The complete radiographic check-up showed the same characteristic appearance on the right side of the skull and the long bones of the right upper limb. Except a deformation of the right fingers, there were no others symptoms. DISCUSSION: Melorheostosis is a rare, sporadic and benign bone dysplasia that may be localized to a single limb or disseminated. The diagnosis is usually made in late childhood. Pain, stiffness, deformation of a limb are the main clinical manifestations. The skin may be erythematous and sclerotic. The radiographic appearance is characteristic with hyperostosis on one side of the bone resembling wax flowing down a candle. A vascular abnormality is present in 17 p. 100 of cases (hemangiomas, aneurysms, renal artery stenosis.). In these cases, melorheostosis is usually limited to the same side of the vascular lesion. We report the first case of arteriovenous fistulae of the ear associated with melorheostosis, on the same side of the body. The physiopathology of melorheostosis is still unknown but the association with a homolateral vascular abnormality suggests a localized defect in embryogenesis of the vascular and skeletal systems.

Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy.

BACKGROUND: Persistent hyperinsulinemic hypoglycaemia of infancy (PHHI) is often resistant to medical therapy. Surgery is therefore necessary. It is due to focal adenomatous islet-cell hyperplasia treatable by partial pancreatectomy, or diffuse beta-cell hyperfunction, which requires near-total pancreatectomy. Pancreatic venous sampling (PVS) is the reference technique for the preoperative diagnosis and localization of focal forms of PHHI in the pancreas. However, hypoglycaemia is necessary to analyse the results and PVS is technically challenging. Pancreatic arterial calcium stimulation (PACS) is technically easier and does not require hypoglycaemia. AIM: To study the accuracy in the diagnosis and localization of PHHI. MATERIALS AND METHODS: PACS was performed in 12 patients and correlated with histology. RESULTS: The accuracy of PACS is poor in diffuse lesions since only two of six cases were correctly identified by this test. Five of six focal lesions were correctly recognized and located. CONCLUSIONS: PACS is less accurate than PVS in PHHI. Currently, it should be performed only when PVS fails.

Intracranial venous anomalies associated with atretic cephalocoeles.

BACKGROUND: Midline scalp lesions are frequent in children. They include soft-tissue masses and atretic meningocoeles. Their recognition is important as their treatment differs. Intracranial venous anomalies are known to be associated with atretic cephalocoeles. MATERIALS AND METHODS: A retrospective study was undertaken to assess the frequency of intracranial venous anomalies associated with atretic meningocoeles (AT). Thirty-one patients with AT were studied by MRI. There were 13 meningocoeles and 14 encephalocoeles; 4 have not yet received surgery. RESULTS: Venous anomalies were found when the cephalocoeles lay above the torcular. They include absence of the straight sinus and duplication of the longitudinal sinus. CONCLUSION: Venous anomalies are frequent in atretic cephalocoeles and are part of the dysraphic state.

Role of embolisation in the treatment of bronchopulmonary sequestration.

BACKGROUND: Sequestrations represent bronchopulmonary malformations that are increasingly diagnosed antenatally. After birth, the therapeutic approach in asymptomatic children is debated, as some may spontaneously regress. OBJECTIVE: To evaluate the efficacy of embolisation of the feeding systemic artery in the treatment of bronchopulmonary sequestration. MATERIALS AND METHODS: Sixteen children with bronchopulmonary sequestration were treated by endovascular embolisation of the feeding systemic artery. RESULTS: Ten patients were considered cured by embolisation alone. One patient was operated on after unsuccessful embolisation, three had partial regression of the lung mass and two are still under follow-up. CONCLUSIONS: Our experience indicates that bronchopulmonary sequestrations in children can be treated by embolisation alone.