Metachromatic leukodystrophy (MLD) is a rare progressive neurological disorder, often accompanied by motor impairments that are challenging to treat. In this case series, we report the course of ...treatment with intrathecal baclofen (ITB), aimed at improving daily care and comfort in children and young adults with MLD. All patients with MLD in our centre on ITB treatment for a minimum of 6 months were included (n=10; 4 males, 6 females; mean age 10y 8mo range 6–24y). Eight patients had MLD with a predominant spastic movement disorder (sMLD) and two were mainly dyskinetic. Patients with sMLD were compared with matched patients with spastic cerebral palsy (CP). Complication rates related to ITB treatment were similar in both groups. ITB treatment course in the first 6 months after pump implantation appears to show more dose increase in most patients MLD, compared to patients with spastic CP. This may be due to the progressive disease in MLD. ITB is a feasible therapy to improve daily care and comfort in patients with MLD and should therefore be considered early.
What this paper adds
Intrathecal baclofen (ITB) is a feasible therapy to improve comfort and daily care in children and young people with metachromatic leukodystrophy (MLD).
In the first 6 months of ITB treatment, MLD seems to show more dose increase compared to spastic cerebral palsy.
Resumen
Baclofen intratecal en la leucodistrofia metacromática
La leucodistrofia metacromática (LDM) es una rara enfermedad neurológica progresiva, habitualmente acompañada de déficit motor de muy difícil abordaje. En esta serie de casos reportamos el curso del tratamiento con baclofen intratecal (BIT), con el fin de mejorar el cuidado diario y el bienestar en niños y adultos jóvenes con esta afectación. Todos los pacientes de nuestro centro portadores de LDM y en tratamiento con BIT fueron incluidos (n=10; 4 varones, 6 mujeres, edad medias 10 años 8 meses rango 6‐24 años). Ocho pacientes tenían una LDM con un desorden del movimiento predominantemente espástico (LDMesp) y dos eran predominantemente diskinética. Los pacientes con LDMesp fueron comparados con pacientes portadores de Parálisis Cerebral Infantil (PCI). Las ratios de complicaciones relacionados con el tratamiento con BIT fueron similares en ambos grupos. El curso del tratamiento con BIT en los primeros 6 meses luego de la implantación de la bomba aparentemente muestra un mayor aumento de la dosis en gran parte de los pacientes con LDM, comparado con los pacientes con PCI espástica. Esto podría deberse a las características progresivas de la LDM. El BIT es una terapia factible y mejora el bienestar y cuidado diario de los pacientes con LDM, y, debería por ello, ser considerada tempranamente como tratamiento.
Resumo
Baclofeno intratecal em leucodistrofia metacromática
A leucodistrofia metacromática (LDM) é uma desordem neurológica rara e progressiva, frequentemente acompanhada por deficiências motoras que são difíceis de tratar. Nesta série de casos, reportamos o curso do tratamento com baclofeno intratecal (BIT), com o objetivo de melhorar o cuidado diário e conforto em crianças e jovens com LDM. Todos os pacientes com LDM em nosso centro para tratamento com BIT por no mínimo 6 meses foram incluídos (n=10; 4 do sexo masculino, 6 do sexo feminino; média de idade 10a 8m variação 6–24a). Oito pacientes tinham LDM com desordem do movimento predominantemente espástica (eLDM) e dois eram predominantemente discinéticos. Pacientes com eLDM foram pareados com pacientes com paralisia cerebra (PC) espástica. As taxas de complicação relacionadas ao tratamento com BIT foram similares em ambos os grupos. O curso do tratamento com BIT nos primeiros 6 meses após implantação da bomba parece mostrar maior aumento de dose nos pacientes com LDM, comparados aos com PC espástica. Isso pode ser devido à doença progressiva em LDM. BIT é uma terapia viável para melhorar o cuidado diário e conforto em pacientes com LDM, e deve portanto ser considerado precocemente.
What this paper adds
Intrathecal baclofen (ITB) is a feasible therapy to improve comfort and daily care in children and young people with metachromatic leukodystrophy (MLD).
In the first 6 months of ITB treatment, MLD seems to show more dose increase compared to spastic cerebral palsy.
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Long-term outcomes are rarely reported for patients with pediatric hydrocephalus. Ventriculoperitoneal shunting is the surgical standard; nevertheless, in selected patients, a ventriculoatrial shunt ...(VAS) remains an important alternative. This study aimed to analyze the causes of VAS revisions and complications.
Pediatric patients who underwent their first shunt operation between 1982 and 1992 were included. The timing, cause, and modality of VAS revisions were retrospectively determined.
Overall, 138 patients were treated for hydrocephalus and 61 patients received a VAS during the follow-up period. A primary VAS was the first shunt type in 42 (68.85%) patients. In 19 (31.15%) patients, conversions to second-line VAS were carried out. The rates of VAS revisions performed for dysfunction or elective lengthening of a short atrial catheter were 52.2% and 22.9%, respectively. There was no difference in the number of VAS revisions between patients with primary VASs and second-line VASs. Age at VAS and etiology of hydrocephalus had no effect on the number of revisions. Specific VAS complications were observed in 2 patients. Deep positioning of the distal catheter led to asymptomatic tricuspid regurgitation that was reversible after shortening of the atrial catheter. Another patient presented with shunt nephritis and completely recovered after the atrial catheter was replaced with a peritoneal catheter.
VAS remains an appropriate second-line alternative in selected patients. Specific VAS complications were rarely observed and completely reversible after treatment. However, regular and specific follow-up examinations are strongly recommended to avoid cardiopulmonary or renal complications.
Aim
The aim of this study was to evaluate the long‐term effect of selective dorsal rhizotomy (SDR) on the gross motor function of ambulant children with spastic bilateral cerebral palsy (CP), ...compared with reference centiles.
Method
The study used a prospective cohort design and participants comprised 29 children classified using the Gross Motor Function Classification System (GMFCS) in level I (n=7), II (n=4), or III (n=18; 18 males, 11 females; median age at time of surgery 6y 4mo; range 2y 10mo–12y 1mo), who were examined 5 years and 10 years after SDR. We used individual centiles based on Gross Motor Function Measure (GMFM‐66) scores and age, corresponding to the GMFCS levels. Individual improvement or deterioration was defined as a change of more than 20 centiles. Side effects experienced and additional treatment received after SDR were also recorded.
Results
Five years after SDR, 10 out of 28 children showed improvement, and 10 years after SDR 6 out of 20 children had improved. Spinal side effects were noted in two children and hip subluxation in three. Additional treatments included subtalar arthrodesis (n=13), endorotational osteotomy of the tibia (n=5), and botulinum toxin treatment (n=13).
Interpretation
None of the children showed deterioration of gross motor function based on centile ranking. Five and 10 years after SDR, gross motor function in some children had improved more than would have been expected according to the reference centiles. This suggests, taking the limitations of this study into account, that the applied criteria for selection were adequate. However, the children still required additional treatment after SDR.
This article is commented on by Steinbok on page 586 of this issue.
To identify factors associated with long-term improvement in gait in children after selective dorsal rhizotomy (SDR).
Retrospective cohort study.
University medical center.
Children (N=36) (age ...4-13y) with spastic diplegia of Gross Motor Function Classification System (GMFCS) level I (n=14), II (n=15), and III (n=7) were included retrospectively from the database of our hospital. Children underwent SDR between January 1999 and May 2011. Patients were included if they received clinical gait analysis before and 5 years post-SDR, age >4 years at time of SDR and if brain magnetic resonance imaging (MRI) scan was available.
Selective dorsal rhizotomy.
Overall gait quality was assessed with Edinburgh visual gait score (EVGS), before and 5 years after SDR. In addition, knee and ankle angles at initial contact and midstance were evaluated. To identify predictors for gait improvement, several factors were evaluated including functional mobility level GMFCS, presence of white matter abnormalities on brain MRI, and selective motor control during gait (synergy analysis).
Overall gait quality improved after SDR, with a large variation between patients. Multiple linear regression analysis revealed that worse score on EVGS and better GMFCS were independently related to gait improvement. Gait improved more in children with GMFCS I and II compared to III. No differences were observed between children with or without white matter abnormalities on brain MRI. Selective motor control during gait was predictive for improvement of knee angle at initial contact and midstance, but not for EVGS.
Functional mobility level and baseline gait quality are both important factors to predict gait outcomes after SDR. If candidates are well selected, SDR can be a successful intervention to improve gait both in children with brain MRI abnormalities as well as other causes of spastic diplegia.
An abdominal pseudocyst (APC) is a distal catheter site-specific failure in patients treated with ventriculoperitoneal shunts. Few studies with more than 10 patients have been reported. The aim of ...this study was to analyze causes of peritoneal catheter revisions with special emphasis on revisions because of an APC.
Pediatric patients with first shunt operation between 1982 and 1992 were included, and time, cause, and modality of peritoneal catheter revision were determined retrospectively.
One hundred thirty-eight patients were treated for hydrocephalus, and 112 patients received a peritoneal catheter during the follow-up. An APC was diagnosed in 14 (12.5%) patients, and 28 revisions were needed for its treatment. The rate of shunt infection in patients with APC was 50%, but bacterial examination of the pseudofluid culture revealed infection in only 3 patients. Age at first surgical procedure, type of first surgical procedure, and etiology of hydrocephalus were not associated with APC diagnosis. APC recurred in 4 patients. These patients had a catheter repositioning directly into the peritoneum as first surgical treatment. No recurrences were observed in patients with shunt externalization or replacement of the peritoneal catheter.
An APC is a major long-term complication after ventriculoperitoneal shunt treatment. Although a sterile inflammatory response cannot be excluded completely, our results favor the hypothesis of low-level shunt infection. In both cases, the surgical consequences are the same. An infected APC should be treated as a shunt infection. Uninfected patients can be treated with shunt externalization and replacement of only the peritoneal catheter.
•An abdominal pseudocyst (APC) is a significant long-term complication after ventriculoperitoneal shunt treatment, affecting 12.5% of patients in this study.•Studies focusing on long-term outcomes and treatment strategies are highly warranted, as only a few studies with more than 10 patients with APC have been reported.•Although a sterile inflammatory response cannot be completely excluded, our results favor the hypothesis of low-level shunt infection.•An infected APC must be treated as a shunt infection. In uninfected cases, shunt externalization and replacement of the distal catheter might be adequate to avoid surgical complications from removal of the intact ventricular catheter and shunt valve.
Purpose
Very long-term follow-up and outcome are rare for pediatric patients with hydrocephalus and shunt operations. The aim of this study was to determine the long-term mortality rates in these ...patients.
Methods
Pediatric patients with first shunt operation between 1982 and 1992 were included. For each patient, time and cause of death were determined. Further, patients with first operation from 1982 to 1987 were compared to those first operated from 1988 to 1992.
Results
One-hundred thirty-seven patients were included. Etiologies of hydrocephalus were intraventricular hemorrhage (31.4 %), meningomyelocele (25.5 %), postinfectious (11.7 %), congenital (10.2 %), posterior fossa cyst (8.8 %), aqueductal stenosis (8 %), and others (4.4 %).
Overall, 53 patients (38.7 %) died. The percentage of patients surviving 1, 2, 10, and 20 years after first operation were 82.6, 73.6, 69.4, and 65.3 %, respectively. In 23 patients, the cause of death was related to shunt treatment: shunt infection was diagnosed in 18 and acute shunt dysfunction in 5 patients. Mortality was considerably higher for patients with their first operation in time period 1982–1987 compared to time period 1988–1992 (51 versus 25 %). The reduction of mortality was mainly due to an increased survival after shunt infection. Eighty-seven patients survived more than 20 years after initial shunt operation. Of those long-term survivors, three (3.4 %) patients died 22–24 years after first operation.
Conclusion
Mortality in hydrocephalic pediatric patients is high especially in the first postoperative years but is even significant in adult patients with pediatric hydrocephalus. As deaths occur even after 20 years, routine follow-up of long-term survivors remains necessary.
Very long-term outcomes are rarely reported for patients with shunted pediatric hydrocephalus. This study aimed to determine the functional, social, and neurocognitive outcomes of such patients after ...transition to adulthood.
Adult patients with pediatric hydrocephalus who underwent their first shunt operation between 1982 and 1992 were included. Functional, social, educational, working aspects, and verbal intelligence were evaluated. In patients with average or above average verbal intelligence, detailed neuropsychological testing was performed and memory, executive functioning, selective attention, and concentration were assessed.
Overall, 137 patients underwent primary surgery because of pediatric hydrocephalus, 53 (38.7%) of whom died during the follow-up period. Of the 84 long-term survivors, 65 (77.4%) agreed to participate and were included for further analysis. Forty-five patients (69.2%) had completed secondary school, but only 34 (52.3%) were integrated in the open labor market. Although the verbal intelligence of 31 patients (47.7%) was within the normal range, 19 (29.2%) had a severe mental handicap. Shunt infections (P = 0.0025), epilepsy (P < 0.0001), and the number of shunt operations (P = 0.0082) were associated with reduced verbal intelligence. Most patients with average or above average verbal intelligence had deficits in detailed neuropsychological testing. In 23 patients, detailed neuropsychological testing was performed.
The overall long-term outcome of patients with shunted pediatric hydrocephalus is poor. These results highlight the importance of lifelong routine controls to avoid later complications. Further, repeated neuropsychological examinations might be important to understand the patient's special needs to optimize professional support.
•Patients continue to show improvement in the gait pattern 10 years after SDR.•Improvements are most evident in the kinematics of knee and ankle joints.•Children with best gross motor function ...classification level improve gait most.
Short-term benefit on gait of selective dorsal rhizotomy (SDR) surgery, which relieves spasticity of the lower extremities has been demonstrated in children with cerebral palsy (CP). However very little is known of the evolution of gait when patients become adolescents and young adults.
How does the gait pattern evolve in adolescents and young adults who underwent SDR during childhood?
A longitudinal study was performed including 19 ambulant patients with spastic diplegia due to CP or other causes (mean age at SDR: 6.6 ± 1.6 years) who were assessed four times: pre-SDR, 2 years post- SDR, 5 years post-SDR and at least 10 years post-SDR. From 2D video recordings, Edinburgh Visual Gait Score and lower limb joint kinematic parameters were calculated.
Our data show that the improvement in the gait pattern obtained short-term after SDR continues during into adolescence and adulthood. Ten years after SDR all patients improved compared to baseline. Considering the lower limb joint kinematics, most notable improvements were found at knee and ankle joints. Compared to the evaluation before SDR, the range of motion of the knee increased: the knee was more extended at initial contact and knee flexion in midswing improved. Excessive ankle plantar flexion was reduced during the entire gait cycle. Only minor changes were found at hip and pelvis. Eight patients underwent additional orthopaedic surgery in the years after SDR, and the present findings should be considered as a combination of SDR, development and additional treatment.
We demonstrate lasting improvement of gait quality in ambulant patients with spastic diplegia who underwent SDR during childhood when they become adolescents and young adults.
An historical cohort study was conducted to investigate the rate and extent of neurological recovery in obstetric brachial plexus injury (OBPI) and to identify possible prognostic factors in a cohort ...of children with OBPI from birth to 7 years. All children (n=56; 31 females, 25 males) with OBPI were evaluated at fixed time intervals by one examiner. They underwent a final neurological examination at a mean age of 3 years 10 months (range 1 to 7 years). Neurological outcome was not as favourable as is often reported: complete neurological recovery occurred in 37 out of 56 children (66%). In half of these there was delayed recovery, in which case complete neurological recovery was assessed from 1.5 to 16 months of age (median age 6.5 months, SD 4.2 months). External rotation and supination were the last to recover and recovered the least. Although biceps function at three months was considered to be the best indicator for operative treatment, external rotation and supination were found to be better in predicting eventual complete recovery. Initial symptoms directly post partum were not found to be prognostic. Functional outcome was mainly reported to be good.
Dystonic cerebral palsy is primarily caused by damage to the basal ganglia and central cortex. The daily care of these patients can be difficult due to dystonic movements. Intrathecal baclofen ...treatment is a potential treatment option for dystonia and has become common practice. Despite this widespread adoption, high quality evidence on the effects of intrathecal baclofen treatment on daily activities is lacking and prospective data are needed to judge the usefulness and indications for dystonic cerebral palsy. The primary aim of this study is to provide level one clinical evidence for the effects of intrathecal baclofen treatment on the level of activities and participation in dystonic cerebral palsy patients. Furthermore, we hope to identify clinical characteristics that will predict a beneficial effect of intrathecal baclofen in an individual patient.
A double blind placebo-controlled multi-center randomized clinical trial will be performed in 30 children with dystonic cerebral palsy. Patients aged between 4 and 25 years old with a confirmed diagnosis of dystonic cerebral palsy, Gross Motor Functioning Classification System level IV or V, with lesions in the cerebral white matter, basal ganglia or central cortex and who are eligible for intrathecal baclofen treatment will be included. Group A will receive three months of continuous intrathecal baclofen treatment and group B will receive three months of placebo treatment, both via an implanted pump. After this three month period, all patients will receive intrathecal baclofen treatment, with a follow-up after nine months. The primary outcome measurement will be the effect on activities of and participation in daily life measured by Goal Attainment Scaling. Secondary outcome measurements on the level of body functions include dystonia, spasticity, pain, comfort and sleep-related breathing disorders. Side effects will be monitored and we will study whether patient characteristics influence outcome.
The results of this study will provide data for evidence-based use of intrathecal baclofen in dystonic cerebral palsy.
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