Juvenile rheumatoid arthritis and lymphoedema: lymphangiographic aspects.

We report a 5 1/2-year-old boy with juvenile rheumatoid arthritis (JRA) and lower-limb lymphoedema. US, MRI and lymphangiography were performed. Based on the lymphangiographic study, we propose a pathogenesis based on obstruction of normal superficial lymphatic vessels in the affected limb.

Surgery of epilepsy associated with focal lesions in childhood.

Object: Surgery in children with epilepsy is a new, evolving field. The important practical issues have been to define strategies for choosing the most suitable candidates and the type and optimal timing of epilepsy surgery. This study was undertaken to elucidate these points.

[Radiologic approach to community-acquired pneumonia].

X-ray investigation is of real use in the therapeutic decision in cases of acute lower respiratory tract infections in children. Systematic lateral chest radiography must be abandoned. Follow up chest radiography may be performed 2 weeks after initiating the treatment.

Clinical features of 52 neonates with hyperinsulinism.

Background: Neonatal hyperinsulinemic hypoglycemia is often resistant to medical therapy and is often treated with near-total pancreatectomy. However, the pancreatic lesions may be focal and treatable by partial pancreatic resection.

Methods: We studied 52 neonates with hyperinsulinism who were treated surgically.

CT scan patterns of pulmonary alveolar proteinosis in children.

Background: To study computed tomographic (CT) findings in children with pulmonary alveolar proteinosis (PAP) more extensively.

Objective: To describe the CT features at the time of diagnosis and after therapeutic broncho-alveolar lavage (BAL).

Materials And Methods: We retrospectively reviewed the CT scans of five children (aged 3 months to 4 years) examined because of incidental bronchitis (n = 1), disease in a sibling (n = 1) and relapsing fever, cough and dyspnoea (n = 3).

Malignancies in pediatric patients with ataxia telangiectasia.

Background: Patients with ataxia telangiectasia (AT), known to have an inherent increased susceptibility to the development of cancer, may present with malignancies that are unusual for the patient's age, are often difficult to diagnose clinically and radiographically and respond poorly to conventional therapy.

Materials And Methods: We reviewed the clinical presentation and imaging studies of 12 AT patients who developed malignancies.

Results: Eight of the twelve patients developed non-Hodgkin's lymphoma (CNS, thorax, bone), two developed Hodgkin's disease, and two were diagnosed with gastrointestinal mucinous adenocarcinoma.

Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.

Two types of histopathological lesions, a focal adenomatous hyperplasia of islet cells of the pancreas in about 30% of operated sporadic cases, and a diffuse form can be observed in congenital hyperinsulinism, or Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI). In sporadic focal forms, specific losses of maternal alleles (LOH) of the imprinted chromosomal region 11p15, restricted to the hyperplastic area of the pancreas, were observed. Similar mechanisms are observed in embryonal tumors and in the Beckwith-Wiedemann syndrome which is also associated with neonatal but transient hyperinsulinism.

Imaging of lung vascularization and perfusion in children.

Imaging techniques to evaluate lung perfusion are continuously evolving. Chest film is still the first step. Spiral CT has revolutionized chest imaging in children, MRI is still progressing and thanks to it, multiplanar abilities will probably take a great importance in the future.

Failure of third ventriculostomy in the treatment of aqueductal stenosis in children.

Object: The goal of this study was to analyze the types of failure and long-term efficacy of third ventriculostomy in children.

Methods: The authors retrospectively analyzed clinical data obtained in 213 children affected by obstructive triventricular hydrocephalus who were treated by third ventriculostomy between 1973 and 1997. There were 120 boys and 93 girls.

[Persistent hyperinsulinemic hypoglycemia in the newborn and infants].

Persistent hyperinsulinemic hypoglycaemia of infancy (PHHI) is the most frequent cause of hypoglycaemia in infancy. Clinical presentation is heterogeneous, with variable onset of hypoglycaemia and response to diazoxide, and presence of sporadic or familial forms. Underlying histopathological lesions can be focal or diffuse.

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

Congenital hyperinsulinism, or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a glucose metabolism disorder characterized by unregulated secretion of insulin and profound hypoglycemia. From a morphological standpoint, there are two types of histopathological lesions, a focal adenomatous hyperplasia of islet cells of the pancreas in approximately 30% of operated sporadic cases, and a diffuse form. In sporadic focal forms, specific losses of maternal alleles (LOH) of the imprinted chromosomal region 11p15, restricted to the hyperplastic area of the pancreas, were observed.

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria.

Unlabelled: Primary persistent hyperinsulinaemic hypoglycaemia of infancy is rare. Diazoxide treatment remains the mainstay of medical therapy in long-term management. We reviewed 77 cases of primary persistent hyperinsulinism in neonates and infants who were treated with diazoxide and studied criteria predictive of therapeutic efficacy.

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.

[[Intrahepatic arteriovenous fistula. Prenatal diagnosis, physiopathological study and neonatal management]l].

A case of arteriovenous fistula of the liver diagnosed at 30 weeks of gestation is reported. The etiologies of an hypoechogenic structure in the fetal liver are discussed showing the contribution of pulsed wave Doppler and color Doppler to the diagnosis. The clinical evolution towards heart failure led us to examine the pathophysiology of such a lesion.

Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role.

Aims: To determine whether the presence of abnormal B-cell nuclei predicts the existence of a focal or of a diffuse form of persistent neonatal and infantile hyperinsulinaemic hypoglycaemia in a series of 20 infants.

Methods And Results: Intra-operative frozen sections were performed on small specimens from the pancreatic head, isthmus and tail. In 13 cases, abnormal B-cell nuclei were identified, but even a near-total pancreatectomy was insufficient to cure some of these patients, in whom no focal lesion was detected.

Lung growth and maturation after tracheal occlusion in diaphragmatic hernia.

Tracheal occlusion (TO) was performed at 120 d of gestation by noninvasive endoscopic technique using a releasable latex balloon, in fetal lambs with diaphragmatic hernia (DH) established at 85 d. The lungs were studied at 139 d in five fetuses with DH + TO, five fetuses with DH only, and six control fetuses. Fluid retention consecutive to TO allowed fetal lungs to grow.

Percutaneous transluminal angioplasty of renal artery stenosis in children.

Twenty percutaneous transluminal renal angioplasties were performed on 16 children (mean age 8.7 years) with hypertension secondary to renal artery stenosis (RAS). The aetiologies were neurofibromatosis (n = 1), Williams syndrome (n = 2), Takayasu arteritis (n = 1) and fibromuscular dysplasia (n = 12).

Papillomas and carcinomas of the choroid plexus in children.

Object: Choroid plexus tumors are rare intraventricular tumors (1% of all intracranial tumors) that occur mainly in children. The pathophysiological characteristics of associated hydrocephalus, surgical management, and oncological issues related to these tumors remain a matter of debate. To understand more about these tumors, the authors have reviewed their experience with the management of 38 children with choroid plexus tumors.

Hydrocephalus and craniosynostosis.

Object: A retrospective study of 1727 cases of craniosynostosis was undertaken to determine the interrelationship between abnormal cerebrospinal fluid (CSF) hydrodynamics and craniosynostosis.

Methods: The patients were divided into two groups: nonsyndromic craniosynostosis and syndromic craniosynostosis. Cases of occipital plagiocephaly without suture synostosis and cases of shunt-induced craniosynostosis were excluded from the study.

Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis.

The detection of pituitary stalk interruption syndrome (PSIS) by magnetic resonance imaging is a diagnostic marker of permanent GH deficiency (GHD), but the pathogenesis of PSIS is unknown. Fifty-one patients (27 males) with GHD and PSIS were classified according to whether the GHD was isolated (group 1, 16 cases) or associated with other anterior pituitary abnormalities (group 2, 35 cases). The 2 groups had similar characteristics (frequencies of perinatal abnormalities, ages at occurrence of first signs and at diagnosis, height, GH peak response to stimuli other than GHRH), but associated malformations were less frequent in group 1 (12%) than in group 2 (54%; P < 0.

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

Sporadic persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or nesidioblastosis is a heterogeneous disorder characterized by profound hypoglycemia due to inappropriate hypersecretion of insulin. An important diagnostic goal is to distinguish patients with a focal hyperplasia of islet cells of the pancreas (FoPHHI) from those with a diffuse abnormality of islets (DiPHHI) because management strategies differ significantly. 16 infants with sporadic PHHI resistant to diazoxide and who underwent pancreatectomy were investigated.

Congenital lumbosacral lipomas.

Congenital lumbosacral lipomas can be responsible for progressive defects. The general feeling is that tethering of roots, filum, or cord probably explains this evolution, and that untethering of these structures could prevent late deterioration. Like the vast majority of neurosurgeons, we too have routinely and systematically operated on lumbosacral lipomas, even in the absence of neurological deficits.

Arteriovenous malformation of the vein of Galen in children.

Arteriovenous malformation of the vein of Galen (VGM) is a unique vascular anomaly in children. Its extra parenchymal location allows for aggressive endovascular treatment. Depending on the age of the child, the clinical presentation of VGM varies from congestive heart failure to hydrocephalus.

Giant perimedullary arteriovenous fistulas of the spine: clinical and radiologic features and endovascular treatment.

Purpose: To present the clinical and radiologic features of giant perimedullary arteriovenous fistulas (GAVFs) in 12 consecutive cases and to evaluate the results of endovascular treatment.

Methods: We retrospectively reviewed the clinical and radiologic data as well as the results of balloon endovascular treatment obtained from 1980 to 1989.

Results: GAVFs, defined as large intradural perimedullary direct arteriovenous high-flow shunts, are revealed mainly in childhood either by subarachnoid hemorrhage or by progressive neurologic disorders.