Intraventricular baclofen for palliative management of acquired generalized dystonia in pediatric patients: a case series and literature review.

Dystonia represents a significant source of disability in children. Generalized dystonia, which involves multiple body regions, leads to impaired mobility and motor function, resulting in substantial challenges in daily activities. Surgical treatments are used when medical treatments fail. Intrathecal baclofen (ITB) or deep brain stimulations (DBS) are the most employed surgical therapies. When these options are not feasible or ineffective, some authors have explored the use of intraventricular baclofen (IVB). In this report, we present four cases of pediatric patients with generalized dystonia who underwent treatment with IVB, resulting in notable improvements. To further explore the potential of this treatment modality, we conducted a comprehensive literature review. The findings from our study provide a comprehensive overview that can guide palliative management in similar cases.

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy.

Spinal muscular atrophy 1 (SMA1) is a severe early genetic disease with degeneration of motor neurons. Motor development is still suboptimal after gene replacement therapy in symptomatic patients. In this study, compound muscle action potential (CMAP) amplitudes were explored as predictors of motor recovery after gene therapy. Thirteen symptomatic SMA1 patients were prospectively included at the Necker Enfants Malades Hospital, Paris, France (Cohort 1) and 12 at the other pediatric neuromuscular reference centers of the French Filnemus network (Cohort 2). In Cohort 1, median CMAP amplitudes showed the best improvement between baseline and the 12 months visit compared to the other tested nerves (ulnar, fibular and tibial). High median CMAP amplitudes at baseline was associated with unaided sitting achievement at M6 (AUC 90%). None of the patients with CHOPINTEND at M0 < 30/64 and median CMAP < 0.5 mV achieved unaided sitting at M6 and this result was confirmed on Cohort 2 used as an independent validation data. Thus, median CMAP amplitude is a valid biomarker for routine practice to predict sitting at M6. A median CMAP amplitude over 0.5 mV at baseline may predict better motor recovery.

Functional and surgical treatments in patients with spinal muscular atrophy (SMA).

Spinal muscular atrophies (SMA type 1, 2, 3) present with various severities according to the motor semeiology related to lesions of the peripheral nervous system (lesions of the anterior horn cells motoneuron or even brain stem). Early motor deficiency causes skeletal deformities responsible for the alteration or even absence of motor skills acquisition. The management of these patients involves several practitioners: pediatric neurologist, pediatric pneumologist, physical medicine and rehabilitation therapist, pediatric orthopedic surgeon, psychologist, physiotherapist, etc. Therefore, this multidisciplinary management must take place in a reference center. This has allowed for improvement of the natural history of SMA. Despite the severity of clinical presentation, especially in SMA type 1 or 2, the functional aspect is always to be taken into account in the first instance. Furthermore, the natural history of the disease is currently being modified by the emergence of innovative therapies that will change the evolution of the disease and its management. Indeed, current treatment objectives are the comfort of installation and the fight against neuro-orthopedic degradation. Although the rise in the number of innovative therapies has led to increased expectancies, such as motor function improvement, practitioners should be aware that these innovative treatments should be balanced against child development and the disease's natural history. Scoliosis surgery is almost systematic in SMA type 2 because of trunk muscular deficiency, especially intercostal muscle insufficiency, and spino-pelvic complex disorder. However, surgical techniques have evolved to become less invasive and more growth friendly in order to follow child development. The final goal of surgery in SMA patients is to obtain a 3-dimensional deformity correction along with a spino-pelvic realignment in order to allow for a comfortable seated position, which is the position of function in these patients, and to allow for better ventilation. Faced with this global approach and innovative therapies, global assessment is warranted not solely in an isolated manner, as is usually the case during hospital stays with traditional scales, but rather during daily activities. This is the case of daily monitoring, which allows for motor skill and activity assessments throughout the day. The principle is to characterize, according to SMA type and treatment, the activity type (standing, seated, walking), duration, intensity and frequency. The ultimate goal would be to identify the variety and occurrence of motor activities, and finally to clarify if the different treatments, including innovative therapies, lead to functional improvement in these patients. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Effet indésirable rare d'un anti-IL-1RA.

INTRODUCTION: Anakinra is an anti-IL-1RA targeting IL-1ß with a central role in the occurrence of auto-inflammatory diseases. Its use is not without risk. CASE REPORT: We report a case of late onset auto-inflammatory syndrome treated with anti-IL-1RA whose progression was marked by deep isolated thrombocytopenia, rapidly regressive after discontinuation of anakinra. CONCLUSION: Immuno-allergic thrombocytopenia to anakinra is a rare, but serious adverse event.

Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy with an impact on patients' quality of life and wide genetic heterogeneity. Next-generation sequencing (NGS) has extended the molecular diagnosis. This study aims to describe a cohort of patients with CMT onset in childhood to explore genotype-phenotype correlations. MATERIAL AND METHODS: This is a retrospective and single-center study. Between 1992 and 2016, patients with CMT diagnosed in childhood and a molecular diagnosis were included. The follow-up was done at the Marseille Timone Teaching hospital and symptoms were retrieved over time in the patients' files, as well as from molecular data and an electrodiagnostic exam. We distinguished three groups: PMP22 compared CMT (CMT1A), MFN2 compared CMT (CMT2A2) and "all genes except PMP22". RESULTS: Seventy-five patients were included with 11 different genes involved, PMP22 being the most frequent (61.3%), then MFN2 (14.7%) and other sporadic mutations in various genes. Limitations in walking tended to occur earlier and more often, and distal strength impairment tended to progress further in CMT2A2 and "others genes than PMP22". The mean age at diagnosis was 8.4 years with a mean age when parents first expressed concern of 4.1 years. Only three patients lost their ability to walk. We describe two cases of digenism and one case of GAN mutation with a CMT-like presentation. An electromyogram was not systemically performed. CONCLUSION: There is a wide genetic and clinical heterogeneity in CMT. We tend to describe more severe patterns in CMT2A2 and less progressive presentations in CMT1A considering distal strength impairment and limitations walking. Prospective studies with more objective principal judgement criteria would be necessary to confirm these observations.

Infant botulism: Two case reports and electroneuromyogram findings.

Botulism is an uncommon severe neuromuscular disorder. We report two recent cases of confirmed infant botulism diagnosed in an 11-week and a 5-month-old infant along with electroneuromyogram (ENMG) findings. Then, we discuss the EMG features of infant botulism. In severe forms of infant botulism, presence of these features might help decide to use botulinum immune globulin. To our knowledge, case 1 is the first case reported in France based on confirmed dust contamination.

Muscle Shortening and Spastic Cocontraction in Gastrocnemius Medialis and Peroneus Longus in Very Young Hemiparetic Children.

OBJECTIVES: Muscle shortening and spastic cocontraction in ankle plantar flexors may alter gait since early childhood in cerebral palsy (CP). We evaluated gastrosoleus complex (GSC) length, and gastrocnemius medialis (GM) and peroneus longus (PL) activity during swing phase, in very young hemiparetic children with equinovalgus. METHODS: This was an observational, retrospective, and monocentric outpatient study in a pediatric hospital. Ten very young hemiparetic children (age 3 ± 1 yrs) were enrolled. These CP children were assessed for muscle extensibility (Tardieu scale XV1) in GSC (angle of arrest during slow-speed passive ankle dorsiflexion with the knee extended) and monitored for GM and PL electromyography (EMG) during the swing phase of gait. The swing phase was divided into three periods (T1, T2, and T3), in which we measured a cocontraction index (CCI), ratio of the Root Mean Square EMG (RMS-EMG) from each muscle during that period to the peak 500 ms RMS-EMG obtained from voluntary plantar flexion during standing on tiptoes (from several 5-second series, the highest RMS value was computed over 500 ms around the peak). RESULTS: On the paretic side: (i) the mean XV1-GSC was 100° (8°) (median (SD)) versus 106° (3°) on the nonparetic side (p = 0.032, Mann-Whitney); (ii) XV1-GSC diminished with age between ages of 2 and 5 (Spearman, ρ = 0.019); (iii) CCIGM and CCIPL during swing phase were higher than on the nonparetic side (CCIGM, 0.32 (0.20) versus 0.15 (0.09), p < 0.01; CCIPL, 0.52 (0.30) versus 0.24 (0.17), p < 0.01), with an early difference significant for PL from T1 (p = 0.03). CONCLUSIONS: In very young hemiparetic children, the paretic GSC may rapidly shorten in the first years of life. GM and PL cocontraction during swing phase are excessive, which contributes to dynamic equinovalgus. Muscle extensibility (XV1) may have to be monitored and preserved in the first years of life in children with CP. Additional measurements of cocontraction may further help target treatments with botulinum toxin, especially in peroneus longus.

Management of drooling in children with cerebral palsy: A French survey.

AIM: To characterise children with cerebral palsy (CP) and pathological drooling in France, and to describe care pathways, assessment and treatment. METHOD: A transversal, observational, descriptive survey of the practices and opinions of 400 health professionals potentially involved in the care of children with CP, was carried out nationally across France in 2013. RESULTS: The response rate was 36%. Seventy-five questionnaires were returned and analysed (52%). A small proportion of children were specifically treated for drooling (<25%). Assessments were carried out in 75% of cases and 91% of professionals prescribed treatments. Use of assessment tools varied widely. The most common treatment was oro-facial rehabilitation (95% of professionals), followed by anticholinergic drugs (Scopolamine(®)) (94%) botulinum toxin injections (BT) (66%) and surgery (34%). Scopolamine was considered to be less effective than BT and to have more side effects. CONCLUSION: The rate of pathological drooling in children with CP is likely underestimated and under treated in France. There is a lack of knowledge regarding assessment tools. Aside from rehabilitation, current practice is to prescribe medication as the first-line treatment, however professionals consider that BT is more effective and has less side effects.

Planovalgus foot deformity in cerebral palsy corrected by botulinum toxin injection in the peroneus longus: Clinical and radiological evaluations in young children.

BACKGROUND: In children with cerebral palsy (CP), overactivity of the peroneus longus (PL) muscle is a major contributor to pes planovalgus. This retrospective study assessed whether abobotulinumtoxinA injections into a PL showing premature activity on electromyography (EMG) clinically improved foot morphology in children with CP. METHODS: Study participants were <6 years old, had a diagnosis of CP, good functional abilities (Gross Motor Function Classification System level 1 or 2), equinovalgus (initial contact with the hallux or head of the first metatarsal) and overactive PL on EMG. The fore-, mid- and hindfoot were evaluated clinically and radiologically before and after injection of abobotulinumtoxinA (6-7 U/kg) into the PL. Radiological data were compared with reference values for children without pes planovalgus. RESULTS: In total, 16 children (8 males; 10 hemiplegia, 6 diplegia; mean age: 3.2±1.5 years) received treatment. Mean pre-and post-treatment angles in clinical assessment of dorsiflexion of the talocrural articulation did not differ with both knees flexed (24.4±7.5 vs. 22.2±8.0 degrees; P=0.19) or extended (17.2±8.0 vs. 16.6±6.8 degrees; P=0.36). Radiographic data pre-treatment versus reference data revealed forefoot pronation (metatarsal stacking angle 2.1±8.3 vs. 8.0±2.9 degrees; P=0.002), midfoot planus (lateral talo-first metatarsal 28.5±15.0 vs. 13.0±7.5 degrees; P<0.001; talocalcaneal angle 54.6±8.6 vs. 49.0±6.9 degrees; P=0.004) and significantly decreased calcaneus dorsiflexion, without hindfoot equinus (calcaneal pitch angle 7.9±6.0 vs. 17.0±6.0 degrees; P<0.001). After treatment, the metatarsal stacking angle did not differ from reference values (P=0.15). As compared with before treatment, treatment improved mean angles for metatarsal stacking (2.1±8.3 vs. 7.1±3.9 degrees, respectively, P=0.002), lateral talo-first metatarsal and talocalcaneal (both P<0.001), with no change in the hindfoot. CONCLUSION: PL may be an early target for abobotulinumtoxinA treatment in pes planovalgus associated with premature PL activity in children with CP.

[Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome]. / Rachitisme carentiel compliquant une maladie de Chanarin-Dorfman.

Vitamin D deficiency rickets remains a public health issue in many parts of the world. In France, this diagnosis has almost disappeared since 1992 with routine vitamin D supplementation for children. Therefore, it is more difficult for doctors to identify risk factors and early signs of this disease. In this article, we report a rickets diagnosis acquired by vitamin D deficiency in a child who presented with the onset of a genu valgum and difficulty walking at the age of 9½ years. This patient was a Comorian child followed up from his birth for Dorfman-Chanarin syndrome. Dorfman-Chanarin syndrome is a rare disease, with about 80 cases reported in the literature. It belongs to the group of neutral lipid storage diseases (NLSD) characterized especially on the skin by ichthyosis. This child presented risk factors for vitamin D deficiency (dark skin color, prolonged and exclusive breastfeeding, premature end of supplementation, and particularly severe ichthyosis) that should have alerted us to the risk of vitamin D deficiency and the need for supplementation. This case highlights the importance of vitamin D, especially if there are risk factors such as ichthyosis, and the need to remain watchful in monitoring all chronic diseases.

[Functional and orthopaedic aspects of dystrophinopathies]. / Aspects fonctionnels et orthopédiques des dystrophinopathies.

Although the clinical picture and the natural progression of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) differ, borderline forms exist. Classical orthopaedic treatment is based on self-rehabilitation (by the parents and the patient), physical therapy, posture alignment with orthotics, ergotherapy to set up technical aides, notably positioning in an electric wheelchair to provide more satisfactory autonomy. The functional aspect predominates over pure orthopaedics. Although surgical indications have evolved for the lower limbs, pelvic-spinal arthrodesis for treatment of scoliosis remains the reference treatment, but the methods have evolved since the advent of corticotherapy for DMD. Corticotherapy slows the progression of motor deficits, the age at which walking ability is lost is delayed (shifting from 10 years to 13-14 years depending on the studies), scoliosis progresses later, respiratory insufficiency is better controlled, and therefore survival is prolonged (between 20 and 40 years). However, although this functional aspect seems to respond better to the progress in overall treatment, it also results from a multidisciplinary approach to the disease. Nevertheless, assessment is required, not at a time t as reflected by the scales currently in use, but during daily activities as proposed by qualitative and quantitative monitoring seeking to model nyctohemeral functional motor skills. The principle is to characterize the type of activity (sitting, standing, lying down, walking), its duration, its intensity (walking speed), its frequency (number of activity changes, number of walking episodes), and their sequence (temporal sequence, organization of activity variation). The goal is to identify the variety of functional motor skills and their occurrence over time to determine whether treatment contributes a functional benefit and whether this benefit is put into practice daily.

[Global functional management of mucopolysaccharidoses]. / Prise en charge globale fonctionnelle des mucopolysaccharidoses.

The management of mucopolysaccharidoses (MPS) requires a multidisciplinary approach and all medical and paramedical specialties may be involved because of the multiorgan nature of the disease. For this reason, patients should ideally be managed in a reference center and their management should be coordinated by an experienced physician who has access to the various specialists through a multi-disciplinary approach. The management is focused on assessments of the numerous features of the disease, study their progression and the effectiveness and pitfalls of specific and non-specific treatments. The main concerns of reeducation and rehabilitation should be to preserve global function through specific goals to be set along with the child and its family. This is a very demanding approach for the patient and family in which education plays a fundamental role in order to ensure optimal management.

Dynamic EMG of peroneus longus in hemiplegic children with equinovarus.

OBJECTIVE: In hemiplegic children the appearance of equinovarus is correlated with premature electromyography (EMG) activity of the gastrocnemius medialis (GM) prior to initial contact. The goal was to analyze the onset of EMG activation in the GM and, more particularly, the peroneus longus (PL) in cases of equinovarus: is PL activity likewise premature? MATERIAL AND METHODS: As 15 hemiplegic children (age 5 years±1.5) with equinovarus walked, their PL and GM EMG activity was being recorded. The latter was normalized in terms of gait cycle percentage (0-100%) and detected through semi-automatic selection with activation threshold set at 20µV. A paired t-test compared activation onset of the PL versus the GM muscles. RESULTS: As regards the healthy limb, activity onset of the GM (+14.55%) and the PL (+19.2%) muscles occurred only during the ST. In cases of equinovarus, activation of the GM (-5.2%) and the PL (-6.1%) occurred during the SW and was premature. For each muscle, comparison between the healthy and the hemiplegic side was highly significant (P<0.001). CONCLUSION: Premature PL and GM EMG activity preceding initial contact corresponds not to a disorder secondary to imbalance but rather, more probably, to motor command dysfunction. While the PL consequently contributes to equinus deformity, its possible role in varus genesis is less evident. EMG study needs to be completed by comparing PL and tibialis posterior strength while taking foot bone morphology into full account.

Novel inter-hemispheric white matter connectivity in the BTBR mouse model of autism.

Alterations in the volume, density, connectivity and functional activation of white matter tracts are reported in some individuals with autism and may contribute to their abnormal behaviors. The BTBR (BTBR T+tf/J) inbred strain of mouse, is used to model facets of autism because they develop low social behaviors, stereotypical and immune changes similar to those found in people with autism. Previously, it was thought a total absence of corpus callosal interhemispheric connective tissues in the BTBR mice may underlie their abnormal behaviors. However, postnatal lesions of the corpus callosum do not precipitate social behavioral problems in other strains of mice suggesting a flaw in this theory. In this study we used digital pathological methods to compare subcortical white matter connective tracts in the BTBR strain of mice with those found in the C57Bl/6 mouse and those reported in a standardized mouse brain atlas. We report, for the first time, a novel connective subcortical interhemispheric bridge of tissue in the posterior, but not anterior, cerebrum of the BTBR mouse. These novel connective tissues are comprised of myelinated fibers, with reduced myelin basic protein levels (MBP) compared to levels in the C57Bl/6 mouse. We used electrophysiological analysis and found increased inter-hemispheric connectivity in the posterior hemispheres of the BTBR strain compared with the anterior hemispheres. The conduction velocity was slower than that reported in normal mice. This study shows there is novel abnormal interhemispheric connectivity in the BTBR strain of mice, which may contribute to their behavioral abnormalities.

Trained modulation of sensorimotor rhythms can affect reaction time.

OBJECTIVE: Brain-computer interface (BCI) technology might be useful for rehabilitation of motor function. This speculation is based on the premise that modifying the EEG will modify behavior, a proposition for which there is limited empirical data. The present study examined the possibility that voluntary modulation of sensorimotor rhythm (SMR) can affect motor behavior in normal human subjects. METHODS: Six individuals performed a cued-reaction task with variable warning periods. A typical variable foreperiod effect was associated with SMR desynchronization. SMR features that correlated with reaction times were then used to control a two-target cursor movement BCI task. Following successful BCI training, an uncued reaction time task was embedded within the cursor movement task. RESULTS: Voluntarily increasing SMR beta rhythms was associated with longer reaction times than decreasing SMR beta rhythms. CONCLUSIONS: Voluntary modulation of EEG SMR can affect motor behavior. SIGNIFICANCE: These results encourage studies that integrate BCI training into rehabilitation protocols and examine its capacity to augment restoration of useful motor function.

A novel P300-based brain-computer interface stimulus presentation paradigm: moving beyond rows and columns.

OBJECTIVE: An electroencephalographic brain-computer interface (BCI) can provide a non-muscular means of communication for people with amyotrophic lateral sclerosis (ALS) or other neuromuscular disorders. We present a novel P300-based BCI stimulus presentation - the checkerboard paradigm (CBP). CBP performance is compared to that of the standard row/column paradigm (RCP) introduced by Farwell and Donchin (1988). METHODS: Using an 8x9 matrix of alphanumeric characters and keyboard commands, 18 participants used the CBP and RCP in counter-balanced fashion. With approximately 9-12 min of calibration data, we used a stepwise linear discriminant analysis for online classification of subsequent data. RESULTS: Mean online accuracy was significantly higher for the CBP, 92%, than for the RCP, 77%. Correcting for extra selections due to errors, mean bit rate was also significantly higher for the CBP, 23 bits/min, than for the RCP, 17 bits/min. Moreover, the two paradigms produced significantly different waveforms. Initial tests with three advanced ALS participants produced similar results. Furthermore, these individuals preferred the CBP to the RCP. CONCLUSIONS: These results suggest that the CBP is markedly superior to the RCP in performance and user acceptability. SIGNIFICANCE: The CBP has the potential to provide a substantially more effective BCI than the RCP. This is especially important for people with severe neuromuscular disabilities.

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the other forms of ARCA has been obtained only recently, and they appear to be rarer. Little is known about the epidemiological features and the relative frequency of the ARCAs and only few data are available about the comparative features of ARCAs. We prospectively studied 102 suspected ARCA cases from Eastern France (including 95 from the Alsace region) between 2002 and 2008. The diagnostic procedure was based on a sequential strategic scheme. We examined the clinical, paraclinical and molecular features of the large cohort of patients and compared features and epidemiology according to molecular diagnosis. A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjögren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2). The group of patients with no identified mutation had a significantly lower spinocerebellar degeneration functional score corrected for disease duration (SDFS/DD ratio; p = 0.002) and comprised a significantly higher proportion of cases with onset after 20 years (p < 0.01). Extensor plantar reflexes were rarer and cerebellar atrophy was more frequent in the group of patients with a known non-Friedreich ARCA compared to all other patients (p < 0.0001 and p = 0.0003, respectively). Lower limb areflexia and electroneuromyographic evidences of peripheral neuropathy were more frequent in the Friedreich ataxia group than in the group with a known non-Friedreich ataxia and were more frequent in the later group than in the group with no identified mutation (p = 0.0001 and p = 0.01, respectively). The overall prevalence of ARCA in Alsace is 1/19,000. We can infer the prevalence of FRDA in Alsace to be 1/50,000 and infer that AT is approximately eight times less frequent than FRDA. MSS, AOA2 and ARSACS appear only slightly less frequent than AT. Despite the broad variability of severity, Friedreich ataxia patients are clinically distinct from the other forms of ARCA. Patients with no identified mutation have more often a pure cerebellar degenerative disease or a spastic ataxia phenotype. It appears that ARCA cases can be divided into two major groups of different prognosis, an early-onset group with a highly probable genetic cause and an adult-onset group with better prognosis for which a genetic cause is more difficult to prove but not excluded. ARCAs are rare, early-disabling and genetically heterogeneous diseases dominated by FRDA. Several of the recently identified ARCAs, such as AVED, ARSACS, AOA1, AOA2 and MSS, have a prevalence close to AT and should be searched for extensively irrespective of ethnic origins. The strategic scheme is a useful tool for the diagnosis of ARCAs in clinical practice.

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.

Bilateral periventricular nodular heterotopia (BPNH) is the most common form of periventricular heterotopia. Mutations in FLNA, encoding filamin A, are responsible for the X linked dominant form of BPNH (FLNA-BPNH). Recently, atypical phenotypes including BPNH with Ehlers-Danlos syndrome (BPNH-EDS) have been recognised. A total of 44 FLNA mutations have so far been reported in this phenotype. Most of these mutations lead to a truncated protein, but few missense mutations have also been described. Here, the results of a mutation screening conducted in a series of 32 BPNH patients with the identification of 12 novel point mutations in 15 patients are reported. Nine mutations were truncating, while three were missense. Three additional patients with BPNH-EDS and a mutation in FLNA are described. No phenotype-genotype correlations could be established, but these clinical data sustain the importance of cardiovascular monitoring in FLNA-BPNH patients.

[Two key describers of the sacro-acetabular relationships: the angles of sacral and acetabular incidence]. / Deux descripteurs clé des relations sacro-cotyloïdiennes : les angles d'incidence sacrée et cotyloïde Mise en évidence par le logiciel De-Visu.

PURPOSE OF THE STUDY: Implantation of total hip arthroplasties raises several important questions concerning the relationship between the orientation of the lumbosacral joint and the acetabular-femoral joint; in other words, between the position of the patients trunk and the orientation of the acetabula. To elucidate better these complex relationships, we conducted a morphometry study on a sample of 51 dry pelves: pelv 26 female and 25 male specimens. MATERIAL AND METHODS: Three-dimensional coordinates of 47 homologous points were recorded for each pelvis. Data were then processed with De-Visu, a graphic visualization software. Seven parameters were compared: sacral slope, sacral incidence, and five parameters quantifying the three-dimensional orientation of the acetabula. RESULTS: The graphic modelization enabled an integral 3-D visualization of each pelvis. The sagittal view enabled simultaneous visualization of the sacrum, the sacroiliac joints, the acetabula, and their alignments, as well as the variability of their spatial relation. The position reference chosen to simulate the upright position aligned the anterior iliac spines and the superior pubic point. This position was found pertinent because the mean value of the sacral slope (41.8) and the sacral incidence (54) were not different from published series. The sacral slope was the most strongly correlated with the acetabular parameters. It exhibited a positive correlation with sagittal acetabular slope (r=0.59) and acetabular inclination (r=0.59). It exhibited a negative correlation with acetabular anteversion (R=0.45). The correlation with the sagittal acetabular slope was very strong for anteversion (r=0.92), and rose with acetabular inclination (r=-0.66). The angle formed by the two acetabular axes was highly variable (37). The correlation between this angle and inclination was very high in males (r=-0.88) and non-significant in females. There was however a very strong correlation with anteversion in females (r=-0.74) which was non-significant in males. This contrasting finding was related to the wide spread of the inclination values in males and anteversion values in females. DISCUSSION: We demonstrated a new sagittal parameter: the acetabular incidence. The summit of this angle is the center of the acetabulum. The sides are the pelvic thickness and the acetabular axes. This parameter was negatively correlated with the sacral incidence. It account simultaneously for the sagittal position of the sacrum in relation to the acetabula and for the degree of acetabular anteversion and inclination. We have demonstrated that the geometric sum of these two angles, sacral incidence and acetabular incidence, is equivalent to the sacro-acetabular angle demonstrated by Lazennec and Saillant. These authors showed that the sacro-acetabular angle is the sum of two positional parameters, the sacral slope and the sagittal acetabular tilt (or slope). The three angles -- sacral incidence, acetabular incidence, sacro-acetabular angle -- are anatomic angles which do not vary with the pelvic position.