Pregnancy in a rudimentary horn: multicenter's MRI features of a rare condition.

Purpose: To describe the MRI features of rudimentary horn pregnancy (RHP) with surgical correlations.

Methods: Nine women with a RHP underwent preoperative pelvic MRI. MRI protocol included T2- (n = 9), T1- (n = 7), and fat-suppressed contrast-enhanced T1-weighted sequences (n = 4).

Prospective evaluation of the effect of deferasirox on hematologic response in transfusion-dependent patients with low-risk MDS and iron overload.

Objectives: To assess the reduction of transfusions rate in transfusion-dependent patients with low-risk myelodysplastic syndrome (MDS) with iron overload treated with deferasirox.

Methods: Prospective observational study. Primary endpoint was reduction in transfusion requirements (RTR) at 3 months, (assessed on 8-week period).

Impact of Wet Macular Degeneration on the Execution of Natural Actions.

Purpose: To use eye movements to investigate how people with a central scotoma might be impaired in the execution of natural actions and whether task familiarity affects performance.

Methods: Sixteen participants with AMD and 16 age-matched controls performed two natural actions: (1) a familiar sandwich-making task and (2) a less familiar model-building task. In each action, task-relevant and task-irrelevant objects were placed on a table, covering 90°.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'genotype first' approach using aCGH on 13 unrelated patients with 19p13.3 submicroscopic rearrangement (11 deletions and 2 duplications) and review cases in the literature and in public databases.

Milk, rather than other foods, is associated with vertebral bone mass and circulating IGF-1 in female adolescents.

Summary: Low calcium intake hampers bone mineral acquisition in adolescent girls. This study explores dietary calcium sources and nutrients possibly associated with vertebral mass. Milk intake is not influenced by genetic variants of the lactase gene and is positively associated with serum IGF-1 and with lumbar vertebrae mineral content and density.

Orbitofacial cleft number 5: radiographic, anatomical, and histologic study of a 24-week-old fetus.

Background: Orbitofacial clefts are caused by a congenital absence of midfacial tissues between the eye and the upper lip just medial to the corner of the mouth. As a whole, facial clefts occur with an incidence of 1.43 to 4.

Natural course of sensitization to hen's egg in children not previously exposed to egg ingestion.

Background: Clinical adverse reactions to egg may occur in infants or children who have never eaten egg. They may be sensitized or even react at first egg ingestion. Few studies are available concerning the reality of egg white allergy in such sensitized children, the natural evolution of this condition and the appropriate decisions to make.

Drug therapy for West's syndrome.

West's syndrome resists most of the standard anticonvulsants. It may respond, however, to steroids or to some of the newer drugs like vigabatrin.

Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group.

Background: Stiripentol is an inhibitor of cytochrome P450 that showed antiepileptic efficacy in severe myoclonic epilepsy in infancy (SMEI) in association with clobazam and valproate in an open study. To confirm these results, 41 children with SMEI were included in a randomised, placebo-controlled, add-on trial.

Methods: After a baseline period of 1 month, placebo (n=20) or stiripentol (n=21) was added to valproate and clobazam during a double-blind period of 2 months.

Phenytoin administration in the newborn and infant.

To evaluate the efficacy and safety of phenytoin (PHT) in the treatment of situation-related seizures and epilepsies in the newborn and infant; the clinical histories of 82 patients were retrospectively reviewed. Sixty patients received for status epilepticus (SE), intravenous PHT followed by long-term oral administration for 27 of them. The other 22 patients had oral treatment only.

Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients.

Vigabatrin (VGB) has demonstrated high efficacy in infantile spasms (IS) due to tuberous sclerosis. Our first objective was to evaluate the cognitive long term effect outcome of children whose refractory spasms definitely disappeared when VGB was given as an add on drug. Our second objective was to determine the response of generalized epilepsy (infantile spasms) compared to partial epilepsy on cognitive impairment.

Stiripentol: efficacy and tolerability in children with epilepsy.

Purpose: Stiripentol (STP) is a new antiepileptic drug (AED) that inhibits cytochrome P450, resulting in increased plasma concentrations of concomitant AEDs. The efficacy and tolerability of STP as an add-on therapy in children were assessed.

Methods: Two hundred twelve patients with refractory epilepsy, aged from 1 month to 20.

Hemispheric specialization using SPECT and stimulation tasks in children with dysphasia and dystrophia.

Developmental dysphasia, a severe childhood learning disorder, is thought to result from problems in hemispheric specialization involving both left and right cerebral hemispheres. Regional cerebral blood flow (rCBF) was measured at rest and during stimulation of both hemispheres independently: dichotic listening for the left, dichaptic palpation for the right. Eight right-handed boys with expressive dysphasia, aged 8 to 12 years, were investigated using SPECT and compared with eight right-handed age-matched boys with Duchenne muscular dystrophy with reading disorders but normal speech.

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.

Aims: To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis.

Methods: A retrospective study was made of all the clinical records and electroencephalograms of neonates identified with pyridoxine dependent seizures between 1983 and 1994, at this hospital. Neonates whose seizures began after more than 28 days of life were excluded; in all, five patients from four families were studied.

Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis.

Objectives: Intraventricular astrocytomas (subependymal giant cell astrocytomas) of tuberous sclerosis have a poor prognosis due to the obstruction of CSF flow. The aim of this study was to determine whether they could be differentiated during childhood and at an early preclinical stage, from subependymal nodules without any growing potential.

Methods: The first two MRIs of all children referred to this neuropaediatric centre between 1987 and 1996 were retrospectively blindly reviewed.

Growth hormone therapy for Turner syndrome: evidence for benefit.

Growth hormone (GH) is registered for children with Turner syndrome (TS) in several countries. Improving the final heights (FH) is certainly the most worthy goal of therapy, but evaluation of treatment effect is complicated by methodological difficulties. Several series of FH results have now been published, with estimated benefits ranging from 0-9.

Vigabatrin withdrawal randomized study in children.

Controlled studies with new antiepileptic drugs are problematic and limited in children. Withdrawal randomization versus placebo in responders previously recognized in an open phase is a new design reported in adults which allows comparison to placebo without delaying the administration of the active compound. We applied such a design in refractory epileptic children in order to study vigabatrin (VGB) in children.

Brain functional imaging SPECT in agyria-pachygyria.

Agyria-pachygyria or lissencephaly type I, a diffuse cortical malformation, provides infantile spasms (IS) which are refractory and persisting after the first decade, an age at which IS have disappeared in the other causes. In order to study the functional postnatal development of the lissencephalic cortex, we measured regional cerebral blood flow (rCBF) using SPECT (Single photon emission computed tomography) and 133Xe in 14 children with lissencephaly, aged from 4 months to 12 years (mean = 40 months) compared to normal children of the same age range and to children with cryptogenic IS aged from 3 months to 3 years (mean = 13 months). rCBF was calculated in frontal (FR) and parieto-temporo-occipital (PTO) cortex as well as the ratio FR/PTO.

Gastroesophageal reflux after repair of congenital diaphragmatic hernia.

Seventy-four survivors of congenital diaphragmatic hernia (CDH) repair were reviewed for gastroesophageal reflux (GER). Twenty-nine patients had a prenatal diagnosis of CDH, 31 had the diagnosis established during the first 60 minutes of life, and 14 had a late diagnosis. Fifty-seven of the 60 patients with a prenatal diagnosis or diagnosis at birth had their CDH repaired during the first 24 hours of life.