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The purpose of this study is to quantify the prevalence of pseudotumors in patients with well-functioning and painful metal-on-metal total hip arthroplasty, to characterize the pseudotumor with the use of MARS-MRI, and to assess the relationship between pseudotumors and metal ions. We retrospectively reviewed 102 single surgeon patients. The results showed that 68.6% developed pseudotumor with 60.9% of the asymptomatic group developing pseudotumor. The symptomatic group had a higher proportion of patients with elevated serum cobalt levels (P=0.035). There was no difference found with elevated metal ions and prevalence of pseudotumor, but elevated cobalt levels were associated with larger pseudotumor size (P=0.001). The available evidence indicated that most patients that develop pseudotumors are asymptomatic, and that elevated serum cobalt levels may be associated with symptoms and pseudotumor size., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Purpose: There is conflicting evidence whether custom instrumentation for total knee arthroplasty (TKA) improves component position compared to standard instrumentation. Studies have relied on long-limb radiographs limited to two-dimensional (2D) analysis and subjected to rotational inaccuracy. We used postoperative computed tomography (CT) to evaluate preoperative three-dimensional templating and CI to facilitate accurate and efficient implantation of TKA femoral and tibial components., Methods: We prospectively evaluated a single-surgeon cohort of 78 TKA patients (51 custom, 27 standard) with postoperative CT scans using 3D reconstruction and contour-matching technology to preoperative imaging. Component alignment was measured in coronal, sagittal and axial planes., Results: Preoperative templating for custom instrumentation was 87 and 79 % accurate for femoral and tibial component size. All custom components were within 1 size except for the tibial component in one patient (2 sizes). Tourniquet time was 5 min longer for custom (30 min) than standard (25 min). In no case was custom instrumentation aborted in favour of standard instrumentation nor was original alignment of custom instrumentation required to be adjusted intraoperatively. There were more outliers greater than 2° from intended alignment with standard instrumentation than custom for both components in all three planes. Custom instrumentation was more accurate in component position for tibial coronal alignment (custom: 1.5° ± 1.2°; standard: 3° ± 1.9°; p = 0.0001) and both tibial (custom: 1.4° ± 1.1°; standard: 16.9° ± 6.8°; p < 0.0001) and femoral (custom: 1.2° ± 0.9°; standard: 3.1° ± 2.1°; p < 0.0001) rotational alignment, and was similar to standard instrumentation in other measurements., Conclusions: When evaluated with CT, custom instrumentation performs similar or better to standard instrumentation in component alignment and accurately templates component size. Tourniquet time was mildly increased for custom compared to standard.

Understanding acetabular cup orientation is important in all aspects of total hip arthroplasty including preoperative planning, intraoperative positioning, and postoperative analysis. New concepts in ideal cup orientation such as 'combined anteversion' have emerged. Using computer navigation and three-dimensional imaging, the potential for accuracy and precision of implantation have improved. Nevertheless, the varying manner in which the terms "anteversion" and "abduction" are often used in the literature is indicative of a nebulous understanding of the complex spatial anatomy of acetabular cup orientation.

A 13-year-old girl presented with an afebrile seizure followed by prolonged confusion and visual hallucinations. Initial investigations in the form of blood tests, cerebrospinal fluid analysis and head imaging by CT, were normal. She represented with two further episodes within a period of 3 weeks. Further investigations considering infective, metabolic and some autoimmune causes of encephalopathy were negative. An MRI head scan was normal. Thyroid function testing disclosed primary hypothyroidism and elevated antithyroid antibodies. She responded well to glucocorticoid therapy for presumed Hashimoto's encephalopathy (HE). HE describes patients with various neurological manifestations with elevated titres of antithyroid antibodies. There are no clear criteria for diagnosis, with many cases labelled as HE. Responses to corticosteroid therapy are favourable. In patients with unexplained encephalopathy, HE should be considered given the favourable response to glucocorticoid therapy.

We describe two cases of a non-epileptic florid movement disorder presenting as status epilepticus. Both patients presented with florid jerking of the limbs and eyes. Convulsive status epilepticus related to presumed meningitis or encephalitis was suspected in both cases. The patients received treatment for seizures, without resolution of the abnormal movements, resulting ultimately in anaesthetic, intubation and ventilation. EEGs showed no epileptic discharges. The diagnosis was opsoclonus myoclonus syndrome in both. One patient was treated with adrenocorticotropic hormone (40 IU/day), the other with prednisolone (4 mg/kg/day) with rapid resolution of symptoms. Neither patient had an underlying neoplasm or infectious agent identified. To date, neither patient has suffered a relapse of symptoms nor does either show any sign of developmental delay. These cases show that the movements in opsoclonus myoclonus syndrome can be sufficiently florid to mimic convulsive status epilepticus. Video footage of both patients at the time of diagnosis is presented online.

Introduction: Hypothalamic hamartomas (HHs) are commonly associated with severe epilepsy resistant to anticonvulsant therapy. Historically, surgical resection of HHs resulted in considerable morbidity., Discussion: Two series of patients who successfully underwent resection using a transcallosal approach have now been published; we report the first UK experience of this technique in a series of five patients with HHs and gelastic epilepsy resistant to anticonvulsant therapy. Patients were assessed pre- and postoperatively for seizure activity, endocrine function, ophthalmology, and neurocognitive function. Two patients had precocious puberty and all had evidence of developmental delay and behavioral problems. Postoperatively, all children experienced at least a 50% reduction in seizure frequency with abolition of major seizure types; one child remains seizure-free. One child developed a mild postoperative right hemiparesis and one developed transient diabetes insipidus., Conclusion: There were no adverse developmental effects of surgery. Transcallosal resection of HHs ameliorates resistant epilepsy syndromes associated with HH.

Background: Early onset idiopathic generalised dystonia is a progressive and profoundly disabling condition. Medical treatment may ameliorate symptoms. However, many children have profound, intractable disability including the loss of ambulation and speech, and difficulties with feeding. Following the failure of medical management, deep brain stimulation (DBS) of the globus pallidus internus (GPi) has emerged as an alternative treatment for the disorder., Methods: We describe four children who presented with dystonia., Results: Following the failure of a range of medical therapies, DBS systems were implanted in the GPi in an attempt to ameliorate the children's disabilities. All children found dystonic movements to be less disabling following surgery. Compared with preoperative Burke, Fahn and Marsden Dystonia Rating Scale scores, postoperative scores at 6 months were improved., Conclusions: DBS is effective in improving symptoms and function in children with idiopathic dystonia refractory to medical treatment. Whilst surgery is complex and can be associated with intraoperative and postoperative complications, this intervention should be considered following the failure of medical therapy.

Background: ARX is a paired-type homeobox gene located on the X chromosome that contains five exons with four polyalanine (PolyA) tracts, a homeodomain, and a conserved C-terminal aristaless domain. Studies in humans have demonstrated remarkable pleiotropy: malformation phenotypes are associated with protein truncation mutations and missense mutations in the homeobox; nonmalformation phenotypes, including X-linked infantile spasms (ISS), are associated with missense mutations outside of the homeobox and expansion of the PolyA tracts., Objective: To investigate the role of ARX, we performed mutation analysis in 115 boys with cryptogenic ISS. This included two pairs of brothers., Results: We found an expansion of the trinucleotide repeat that codes for the first PolyA tract from 10 to 17 GCG repeats (c.333&#95;334ins[GCG]7) in six boys (5.2%) ages 2 to 14, from four families, including the two pairs of brothers. In addition to ISS, all six boys had severe mental retardation and generalized dystonia that appeared around the age of 6 months and worsened, eventually leading to stable severe quadriplegic dyskinesia within age 2 years. Three children experienced recurrent, life-threatening status dystonicus. In four children brain MRI showed multiple small foci of abnormal cavitation on T1 and increased signal intensity on T2 in the putamina, possibly reflecting progressive multifocal loss of tissue., Conclusion: The phenotype of infantile spasms with severe dyskinetic quadriparesis increases the number of human disorders that result from the pathologic expansion of single alanine repeats. ARX gene testing should be considered in boys with infantile spasms and dyskinetic cerebral palsy in the absence of a consistent perinatal history.

Neurological deterioration during an episode of diabetic ketoacidosis is usually assumed to be caused by cerebral oedema. We present a case of cerebral venous sinus thrombosis presenting in a similar manner, also associated with severe iron deficiency anaemia. Computed tomography scanning provided the correct diagnosis and allowed institution of anticoagulation with improvement in neurological outcome. Neuroimaging should always be performed in suspected cerebral oedema associated with diabetic ketoacidosis in order to exclude other pathologies.

A case is reported of a 3 year old boy with an acute history of cerebellar impairment and x ray evidence of apparent chest infection. At postmortem examination, his lungs but not the nervous system were found to be massively infiltrated by Langherans histiocytes. In retrospect, the acute ataxia was diagnosed as a paraneoplastic phenomenon secondary to Langherans cell histiocytosis (LCH). This represents a unique occurrence complicating LCH in childhood.

This randomized, prospective study assessed postoperative pain control in 119 patients undergoing total joint arthroplasty. Group 1 (59 patients) received scheduled, around-the-clock, oral opioids and group 2 (60 patients) received oral opioids on an as-needed basis. Both groups had parenteral opioids available for breakthrough pain. The average scores for group 1 were lower than group 2. Differences were significant in sensory scores (AM day 1; AM and PM day 2), affective scores (PM day 2), total pain (PM day 2), visual analog scale (PM day 2), and present pain intensity index (AM day 1; PM day 2). Group 1 averaged 2.05 breakthrough pain doses and group 2 averaged 3.47 doses (P=.003), an average savings of 17.2% of the cost of pain medications during the first 2 postoperative days. The results indicate that scheduled, around-the-clock, oral opioids are an effective treatment regimen for postoperative pain control in total joint arthroplasty patients.

Purpose: To explore parents' opinions and concerns about seizures, anticonvulsants, and the effect of treatment in children with Angelman syndrome., Design: A postal questionnaire was sent to members of one of the UK lay groups for Angelman syndrome (ASSERT) who had a child affected by Angelman syndrome. The questionnaire requested general medical information and information about the epilepsy, its treatment, and treatment responses., Results: One hundred and fifty questionnaires were sent out with an ASSERT routine mailing and 78 completed questionnaires were returned. Forty three patients were boys and 35 were girls; ages ranged from 1.7 to 25 years (mean 7.5 years). The overall general clinical and cytogenetic data were mostly consistent with previous reports. Epilepsy was reported in 68 children, most of whom had a detectable cytogenetic deletion. The most common seizure types reported by the families were absence seizures, tonic clonic seizures, drop attacks, and myoclonic seizures; in four patients only febrile seizures occurred. The age at onset of the seizures was < 2 years in more than half of the patients. Anti-epileptic drug treatment with valproate (VPA), clonazepam (CZP), and lamotrigine (LTG) as monotherapy or a combination of VPA and CZP or VPA and LTG was more often viewed favourably and considered effective with fewer side effects on the child's behaviour and alertness, versus more frequent adverse effects and increased frequency and severity of seizures with carbamazepine (CBZ) and vigabatrin (VGB) in monotherapy or in combination with other anti-epileptic drugs. Seizures did tend to improve with age but were still present and disabling at older ages., Conclusions: This is the first study to record parents' opinions about seizures, anti-epileptic drugs, and treatment responses in children with Angelman syndrome, and it is one of the largest series on epilepsy and Angelman syndrome to be reported to date.

Objective: To investigate the prevalence of currently recognised inherited prothrombotic states in a population of children with arterial stroke., Methods: Children with arterial stroke presenting to a tertiary level paediatric neurology centre between 1990 and 1996 were investigated for inherited prothrombotic states., Results: Sixty seven children with arterial stroke were investigated. Abnormalities were initially identified in 16 patients; however, only eight children (12%) had an inherited prothrombotic state. This was type 1 protein S deficiency in one patient, the factor V Leiden mutation in six, and activated protein C resistance (without the factor V Leiden mutation) in one. The prevalence of the factor V Leiden mutation was not significantly higher in children with arterial stroke (12%) than in a control population of children without thrombosis attending the same institution (5.2%; Fisher's exact test, p=0.19; difference in prevalence between patients and controls (95% confidence interval)=6.8% (-2.78% to 16.8%))., Conclusions: Currently recognised inherited prothrombotic tendencies were rarely associated with stroke in this group of children, although larger numbers of patients would be needed to confirm this. Age appropriate normal values should be used when interpreting the results of a prothrombotic screen. Prothrombotic abnormalities seen acutely are as often transient as inherited. Longitudinal assessment and family studies are required before low concentrations of an anticoagulant protein found acutely can be attributed to an inherited abnormality.

Fazio-Londe disease is a label sometimes applied to a degenerative disease of the motor neurons characterized by progressive bulbar paralysis in children. It is very rare with only 22 case reports describing 24 children including four sibling pairs. In two reports mothers and sons were affected. The neuropathology is described in only four cases. Previous authors have recognized that the condition is very heterogeneous. The clinical features of five children with this type of progressive bulbar paralysis, diagnosed at this hospital between 1969 and 1989, are reviewed, and in two cases neuropathological findings are detailed. Based on this experience, suggested criteria for diagnosis include clinical features of a pure motor neuronopathy affecting the bulbar nuclei, exclusion of other causes of progressive bulbar paralysis and positive support for the diagnosis from electromyography and/or pathological examination. A review of the literature, combined with the present series, suggests that there are at least three distinct subtypes: a very rare autosomal dominant form (as described by Fazio) and two variants with probable autosomal recessive inheritance either with early onset of respiratory symptoms and rapid progression to death or later onset, less prominent respiratory symptoms and protracted clinical course. There is strong concordance for each clinical pattern within families.

A patient is described who has features of Pearson syndrome and who presented in the neonatal period with a hypoplastic anemia. He later developed hepatic, renal, and exocrine pancreatic dysfunction. At the age of 5 years he developed visual impairment, tremor, ataxia, proximal muscle weakness, external ophthalmoplegia, and a pigmentary retinopathy (Kearns-Sayre syndrome). Muscle biopsy confirmed the diagnosis of mitochondrial myopathy. Analysis of mtDNA from leukocytes and muscle showed mtDNA heteroplasmy in both tissues, with one population of mtDNA deleted by 4.9 kb. The deleted region was bridged by a 13-nucleotide sequence occurring as a direct repeat in normal mtDNA. Both Pearson syndrome and Kearns-Sayre syndrome have been noted to be associated with deletions of mtDNA; they have not previously been described in the same patient. These observations indicate that the two disorders have the same molecular basis; the different phenotypes are probably determined by the initial proportion of deleted mtDNAs and modified by selection against them in different tissues.

Two siblings with developmental delay and a non-progressive cerebellar ataxia are described. The electroencephalograms in both children showed a rather unusual pattern of high amplitude 10-12/s rhythms maximal anteriorly, while extensive neuronal migration abnormalities were apparent on Magnetic Resonance scans. There were no dysmorphic features, metabolic abnormalities, chromosomal defects or evidence of prenatal environmental toxins. It is considered that these siblings have an autosomal recessive neuronal migration defect which has not previously been reported.

The previously unreported association of neonatal hemangiomatosis and infantile spasms is described in a 4-month-old female. The high mortality and morbidity of this neurocutaneous syndrome necessitates prompt recognition and investigation, to enable identification of associated internal lesions.

A series of 26 cases of meningitis occurring in one year in a defined area is presented. The clinical features, and complications are reviewed. Neisseria meningitidis occurred twice as commonly as Haemophilus influenzae, suggesting that the pattern of infection differs from that reported in England and Wales. An incidence of 4.6/100,000 for N. meningitidis is reported exceeding rates of infection in previous UK "epidemics".