Gait in normal pressure hydrocephalus: characteristics and effects of the CSF tap test / Marcha na hidrocefalia de pressão normal: características e efeitos do tap-test

ABSTRACT Normal pressure hydrocephalus (NPH), described by Hakim and Adams in 1965, is characterized by gait apraxia, urinary incontinence, and dementia. It is associated with normal cerebrospinal fluid (CSF) pressure and ventricular dilation that cannot be attributed to cerebral atrophy. Objectives: To evaluate gait characteristics in patients with idiopathic NPH and investigate the effect of the CSF tap test (CSF-TT) on gait. Methods: Twenty-five patients diagnosed with probable idiopathic NPH were submitted to the CSF-TT. The procedure aimed to achieve changes in gait parameters. Results: Fifteen gait parameters were assessed before and after the CSF-TT. Five showed a statistically significant improvement (p < 0.05): walking speed (p < 0.001), cadence (p < 0.001), step length (p < 0.001), en bloc turning (p = 0.001), and step height (p = 0.004). Conclusion: This study demonstrated that gait speed was the most responsive parameter to the CSF-TT, followed by cadence, step length, en bloc turning, and step height.

RESUMO A hidrocefalia de pressão normal (HPN), descrita por Hakim-Adams em 1965, caracteriza-se por apraxia de marcha, incontinência urinária e demência e está associada com pressão normal do líquido cefalorraquidiano e dilatação ventricular não atribuída a atrofia cerebral. Objetivos: Avaliar as características da marcha em pacientes com HPN idiopática e o efeito do "tap-test" (TT) na marcha. Métodos: Vinte e cinco pacientes com o diagnóstico HPN idiopática provável, foram avaliados com o TT. O procedimento tem como objetivo causar mudanças nas características da marcha. Resultados: Quinze parâmetros da marcha foram avaliados com o TT. Cinco mostraram melhora estatisticamente significativa (p < 0,05): velocidade da marcha (p < 0,001), cadência (p < 0,001), comprimento do passo (p < 0,001), giro em "bloco" (p = 0,001) e altura do passo (p = 0,004). Conclusão: Este estudo demonstrou que a velocidade da marcha foi o parâmetro que mais respondeu ao efeito do TT, seguido da cadência, comprimento do passo, giro em "bloco" e altura do passo.

Balance impairment does not necessarily coexist with gait apraxia in mild and moderate Alzheimer's disease / Comprometimento do equilíbrio e apraxia da marcha não necessariamente coexistem na doença de Alzheimer leve e moderada

ABSTRACT Currently, there are no studies reporting how much balance impairment coexists with gait apraxia in mild and moderate Alzheimer’s disease (AD). Objectives To assess correlations among gait apraxia, balance impairment and cognitive performance in mild (AD1, n = 30) and moderate (AD2, n = 30) AD. Method The following evaluations were undertaken: gait apraxia (Assessment Walking Skills); balance performance (Berg Balance Scale); Clinical Dementia Rating and Mini-mental State Examination (MMSE). Results While disregarding AD subgroups, Berg Balance Scale and the MMSE correlated significantly with Assessment Walking Skills and 23% of all subjects scored below its cut-off. After stratification, Berg Balance Scale correlated significantly with Assessment Walking Skills in both AD subgroups, and with the MMSE only in AD1. Conclusions Balance impairment does not necessarily coexist with gait apraxia. Gait apraxia is more prevalent in moderate AD when compared with mild AD.

RESUMO Apraxia da marcha e desequilíbrio são condições subinvestigadas na doença de Alzheimer (DA) leve e moderada. Objetivo Verificar a correlação da apraxia da marcha com desequilíbrio e cognição em 30 idosos com DA leve (DA1) e 30 idosos com DA moderada (DA2). Método Foram feitas as seguintes avaliações: apraxia da marcha (Assessment Walking Skills); equilíbrio (Berg Balance Scale); Clinical Dementia Rating e Mini-exame do estado mental – MEEM. Resultados Desconsiderando-se os grupos, Berg Balance Scale e MEEM correlacionaram-se significativamente com a Assessment Walking Skills, enquanto 23% dos participantes pontuaram abaixo da note de corte da mesma. Considerando-se os grupos, Berg Balance Scale correlacionou-se significativamente com a Assessment Walking Skills em ambos os grupos, embora o MEEM o tenha feito apenas em DA1. Conclusões Desequilíbrio e apraxia da marcha não necessariamente coexistem com apraxia da marcha. Prevalência de apraxia da marcha foi maior na DA moderada do que na DA leve.

Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature.

INTRODUCTION: Klippel-Feil syndrome is characterized by a congenital fusion of cervical vertebrae. Intracranial teratomas are nongerminomatous germ cell tumors and they account for 0.3 to 0.9% of all intracranial tumors. Teratomas with malignant transformation refer to lesions which give rise to malignant cancer of somatic type. The association between tumors of dermoid origin and Klippel-Feil malformation is extremely rare. Only 23 other cases have so far been reported, and only one case of dermoid tumor with areas of dedifferentiation on squamous cell carcinoma has been described. CASE PRESENTATION: We report the case of a 72-year-old white man with a 2-year history of gait and balance disturbances. A brain magnetic resonance imaging revealed a fourth ventricle neoplastic process with infiltrative features. He was operated through a suboccipital craniectomy with a C1 laminotomy and bilateral vertebral artery transposition. At 6-months follow-up, magnetic resonance imaging showed an early regrowth of the fourth ventricle tumor, with the same radiological features. CONCLUSIONS: Patients with Klippel-Feil malformation could develop posterior fossa dermoid tumors. The malignant potential of such tumors must be considered and surgery is recommended. Particular attention must be focused on the histopathological analysis in order to identify possible foci of malignant transformation.

Multiple spinal arteriovenous fistulas: A case-based review.

The occurrence of multiple spinal dural arteriovenous fistulas (AVFs) is rare. The majority of cases reported are synchronous and the lesions are mainly found at different spinal levels. Metachronous AVFs have been defined as lesions that manifest in a temporal sequence after treatment of a first AVF. In this report, we present two distinct cases of multiple spinal AVFs. Also, we review the main features of the cases previously reported, with emphasis on the proposed theories for the origin of multiple AVFs. In patients with failure to improve after treatment of a spinal DAVF, a whole-spine angiographic examination is mandatory, not only to ascertain the complete closure of the treated fistula, but also to look for a possible second lesion at a different spinal level.

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

BACKGROUND: The thyroid hormone receptor α gene (THRA) transcript is alternatively spliced to generate either thyroid hormone receptor (TR)α1 or a non-hormone-binding variant protein, TRα2, the function of which is unknown. Here, we describe the first patients identified with a mutation in THRA that affects both TRα1 and TRα2, and compare them with patients who have resistance to thyroid hormone owing to a mutation affecting only TRα1, to delineate the relative roles of TRα1 and TRα2. METHODS: We did clinical, biochemical, and genetic analyses of an index case and her two sons. We assessed physical and radiological features, thyroid function, physiological and biochemical markers of thyroid hormone action, and THRA sequence. FINDINGS: The patients presented in childhood with growth failure, developmental delay, and constipation, which improved after treatment with thyroxine, despite normal concentrations of circulating thyroid hormones. They had similar clinical (macrocephaly, broad faces, skin tags, motor dyspraxia, slow speech), biochemical (subnormal ratio of free thyroxine:free tri-iodothyronine [T3], low concentration of total reverse T3, high concentration of creatine kinase, mild anaemia), and radiological (thickened calvarium) features to patients with TRα1-mediated resistance to thyroid hormone, although our patients had a heterozygous mis-sense mutation (Ala263Val) in both TRα1 and TRα2 proteins. The Ala263Val mutant TRα1 inhibited the transcriptional function of normal receptor in a dominant-negative fashion. By contrast, function of Ala263Val mutant TRα2 matched its normal counterpart. In vitro, high concentrations of T3 restored transcriptional activity of Ala263Val mutant TRα1, and reversed the dominant-negative inhibition of its normal counterpart. High concentrations of T3 restored expression of thyroid hormone-responsive target genes in patient-derived blood cells. INTERPRETATION: TRα1 seems to be the principal functional product of the THRA gene. Thyroxine treatment alleviates hormone resistance in patients with mutations affecting this gene, possibly ameliorating the phenotype. These findings will help the diagnosis and treatment of other patients with resistance to thyroid hormone resulting from mutations in THRA. FUNDING: Wellcome Trust, NIHR Cambridge Biomedical Research Centre, Marie Curie Actions, Foundation for Development of Internal Medicine in Europe.

Sudden paraplegia in a case of apparently isolated frontal embryonal tumour with abundant neuropil and true rosettes.

The exceptional case of a 19-month-old boy with an apparently isolated frontal lesion and a huge holocord neoplastic involvement, presenting with a subtly indolent preoperative course and a particularly tumultuous evolution, is reported. The diagnosis of embryonal tumour with abundant neuropil and true rosettes was posed.

[Pseudohypoparathyroidism revealed by Fahr syndrome]. / Un syndrome de Fahr révélateur d'une pseudohypoparathyroïdie.

Fahr syndrome is defined by the presence of striopallidal notched bilateral and symmetric calcifications at the base of the skull. We report an observation of a 12-year-old girl who presented gait impairment, seizures, somnolence and aphasia. Brain computed tomodensitometry identified intracranial calcifications. The tests demonstrated pseudohypoparathyroidism.

Higher level gait disorders in subcortical chronic vascular encephalopathy: a single photon emission computed tomography study.

BACKGROUND: the so-called higher level gait disorders include several types of gait disorders in which there are no major modifications in strength, tone, sensitivity, coordination and balance. Brain activation sites related to walking have been investigated using SPECT in humans. The aim of the study was to investigate brain activation during walking in subjects with high-level gait disorders due to chronic subcortical vascular encephalopathy. SUBJECTS: twelve patients with a chronic vascular encephalopathy were enrolled in the study. Seven subjects had apraxic gait while in the other five the gait was normal. All patients had undergone a recent cerebral magnetic resonance that revealed diffused chronic ischemic lesions within the white matter. METHODS: all 12 patients underwent a regional cerebral blood flow (rCBF) brain SPECT study with (99m)Tc-Bicisate on two separate days and under two different conditions: at rest (baseline) and while walking (functional). RESULTS: the rCBF increase induced by the treadmill test (functional-baseline), bilaterally in the medial frontal gyrus and in the anterior lobes of the cerebellum, resulted significantly (P < 0.001) lower in patients with gait apraxia versus those without it. CONCLUSIONS: this study of the brain with SPECT records the areas of perfusion deficit that appear in apraxic subjects when they walk, compared with the recordings obtained with the same investigation performed at rest.

[Primary hyperparathyroidism as a differential diagnosis of Creutzfeldt-Jakob disease]. / Hyperparathyroïdie primitive : un diagnostic différentiel de la maladie de Creutzfeldt-Jakob.

We report the case of a 79-years-old woman, hospitalized for a suspicion of Creutzfeldt-Jakob disease because of subacute dementia associated with gait disorder. Laboratory testing revealed elevated serum calcium at 3.51 mmol/l (N=2.25-2.60 mmol/l) caused by a hyperparathyroidism. After symptomatic treatment of hypercalcemia by biphosphonate, cognitive functions as well as the gait disorder improved quickly. A double parathyroid adenoma was removed surgically. Primary hyperparathyroidism is a curable cause of a Creutzfeldt-Jakob like syndrome. Serum calcium should be checked in this clinical setting.

Gait apraxia: further clues to localization.

BACKGROUND/AIMS: Gait apraxia characterized primarily by gait ignition failure has been linked to lesions involving the dorsomedial frontal lobes, but the precise locus within this general region has not been determined. It has previously been hypothesized by Thompson and Marsden that disease, disconnection, or dysfunction of supplementary motor area (SMA) may account for the similarities in the gait disorders observed in Binswanger's disease, hydrocephalus, frontal lobe lesions, and Parkinson's disease. We reevaluate this hypothesis. METHODS: Clinical description and MRI of 2 subjects with gait apraxia characterized primarily by gait ignition failure. RESULTS: Both subjects had incapacitating gait disorders characterized by particular difficulty with initiating gait and making turns. Both had MRI-demonstrated lesions of the SMA region, parasagittal convexity premotor cortex, or subjacent white matter bilaterally, one due to primary CNS lymphoma, one due to a lobar atrophy. CONCLUSIONS: In both these cases, the lesions were substantially more limited and focal than any reported heretofore in the literature on gait apraxia or freezing of gait. The clinicopathologic correlation in these cases provides partial support for the Thompson and Marsden hypothesis, but also may implicate parasagittal convexity premotor cortex in the genesis of gait apraxia.

Gait disorders in patients with fibromyalgia.

OBJECTIVES: The objective of this study was to compare gait in patients with fibromyalgia and in matched controls. METHODS: Measurements must be obtained in patients with fibromyalgia, as the evaluation scales for this disorder are semi-quantitative. We used a patented gait analysis system (Locometrix Centaure Metrix, France) developed by the French National Institute for Agricultural Research. Relaxed walking was evaluated in 14 women (mean age 50+/-5 years; mean height 162+/-5 cm; and mean body weight 68+/-13 kg) meeting American College of Rheumatology criteria for fibromyalgia and in 14 controls matched on sex, age, height, and body weight. RESULTS: Gait during stable walking was severely altered in the patients. Walking speed was significantly diminished (P<0.001) as a result of reductions in stride length (P<0.001) and cycle frequency (P<0.001). The resulting bradykinesia (P<0.001) was the best factor for separating the two groups. Regularity was affected in the patients (P<0.01); this variable is interesting because it is independent of age and sex in healthy, active adults. CONCLUSION: Measuring the variables that characterize relaxed walking provides useful quantitative data in patients with fibromyalgia.

Neuropsychological evaluation of late-onset post-radiotherapy encephalopathy: a comparison with vascular dementia.

It is known that radiotherapy (RT) may cause cerebral injury. The most frequent neurotoxic effect of RT at any age is diffuse cerebral injury. Brain injury by therapeutic irradiation has traditionally been classified according to its time of onset into acute, early delayed, and late forms. The latter is not reversible. The neurocognitive sequelae of cranial irradiation can be mediated through vascular injury. Because the pathologic changes are most profound in the white matter, we compared a group of patients treated by RT (n=34) with a group of patients affected by subcortical vascular dementia (sVaD, n=34). Patients with a total radiation does <35 cGy did not show any sign of cognitive impairment. All the patients with a total irradiation dose >45 cGy did show profound cognitive and behavioural alteration. The patients who received a total dose of brain radiation comprised between 35 and 45 cGy did show slowness of executive function, and profound alterations of frontal functions, such as attention focusing, mentation control, analogical judgement and insight. The patients who suffered from the consequences of RT had slowness of executive functions, and profound alterations of frontal functions, such as attention focusing, mentation control, analogical judgement and insight, similar to those obtained by the patients suffering from subcortical vascular dementia. High dose RT might result in a severely demented, bedridden patient, who "has been cured" from his primary disease, the brain tumour. This constellation demands serious consideration before RT is given.

[Using the gait laboratory for the investigation of orthopaedic clinical problems in children]. / Einsatz des Ganglabors bei klinisch-orthopädischen Fragestellungen in der Kinderorthopädie.

AIM OF THE STUDY: We point out multiple applications of a gait laboratory in solving different problems in the children's orthopaedic field. With typical examples we show how biometrical data of the gait laboratory can be helpful to solve problems in orthopaedic examinations. MATERIAL AND METHOD: The range of questions to be solved in the gait laboratory differs from individual diagnostic examinations of a patient up to the control of devices in the functional use at the patient. As a typical example for the individual examination we show the gait analysis in a 14-year-old girl with idiopathic chondrolysis of the hip joint. The functional use of orthopaedic devices will be shown in youths with neuroorthopaedic diseases. As a very special question to the gait lab we describe the supply of children and youths with optimal sport shoes for running. RESULTS: The biometrical measurement techniques generate exact data to solve individual diagnostic and therapeutic questions. Orthopaedic devices can be tested in their functional efficiency and quality. Special questions can be answered very flexible. CONCLUSION: Diagnosis and therapy in orthopaedics and children's orthopaedics rely on exact data. However, details of the dynamics during movement are neither visible to the most experienced orthopaedic surgeon nor can they be documented by conventional diagnostic imaging procedures. The present technical potential of biometric assessment methods allow to precise and correct some empirical knowledge, they open a wide field of new applications in diagnostic and therapeutic examinations.

Frontal ataxia in childhood.

Frontal ataxia may be the result of a unilateral frontal lesion. In this report three cases are presented with ataxia due to right frontal lesions. One case concerns a boy presenting with an unsteady gait and titubation of the trunk, mimicking developmental disequilibrium and with complex partial seizures. It proved to be caused by a small right-sided cavernoma in the middle frontal gyrus. After surgical intervention the symptoms and the seizures disappeared. Two subsequent cases concern teenage patients presenting with headache after an ENT infection and on physical examination mild dysmetric function of the upper limbs and slight disequilibrium, due to right-sided frontal lobe abscesses. After neurosurgical and antibiotic therapy the symptoms were relieved. The frontal origin of ataxia should be considered in children presenting with a "cerebellar syndrome". Frontal gait disorders consist of a clinical pattern of different gait disorders. The syndrome has been mentioned in the literature under different names. Our patients show signs compatible with the term frontal disequilibrium, a clinical pattern of frontal gait disorder. This assumes walking problems characterized by loss of control of motor planning, leading to imbalance. Remarkably, frontal ataxia may mimic developmental delay as demonstrated in the first case and may be the leading mild symptom in extensive frontal lobe damage as demonstrated by the two other cases. We suppose that frontal ataxia is the result of a disturbance in the cerebellar-frontal circuitries and an impairment of executive and planning functions of the basal ganglia-frontal lobe circuitry.

Cervical ependymoma presenting with brainstem and cerebellar signs: case report.

This case report demonstrates cervical spinal cord pathology which presented with brainstem and cerebellar signs consequent to the peritumoural oedema that extended rostrally to the pontomedullary junction. A Medline search of the literature back to 1960 failed to produce any previous report of a cervical ependymoma presenting with brainstem and cerebellar signs purely consequent to oedema. This case highlights the need to look further afield when presented with the scenario of clinical features of a brainstem lesion with only oedema apparent on cranial imaging. It indicates the need to include cervical imaging well below the foramen magnum in these circumstances.

Paraneoplastic chorea: case study with autopsy confirmation.

A 67-year-old man presented with a 7-month history of insidiously progressive chorea, ataxia, and vertigo. Neurologic examination revealed deficits referable to the basal nuclei, cerebellar vermis, and vestibular nuclei. Small-cell lung cancer was diagnosed by fine-needle biopsy of a parahilar mass. After chemotherapy, the patient's chorea worsened. Anti-Hu antibodies were present in serum and cerebrospinal fluid. Microscopic examination of the brain at autopsy revealed diffuse perivascular lymphocytic infiltrates, microglial activation, and neuronophagia throughout the neuraxis, including the brainstem, cerebellum, lenticular nuclei, striatum, and cerebral cortex. Prominent loss of Purkinje cells was seen in the cerebellar vermis and hemispheres to a lesser degree. Chorea is extremely rare as a paraneoplastic manifestation of cancer. The florid presentation and the positive findings contrasted with an unremarkable MRI of the brain. This case illustrates the preeminence of symptoms and signs over negative MRI findings in paraneoplastic encephalitis.

[Children with stumbling gait due to acute spinal cord compression]. / Kinderen met een wankel looppatroon door acute ruggenmergcompressie.

Three previously healthy children, two girls aged 2 and almost 5 years and a boy aged 20 months, developed a progressively stumbling gait within days. In two this occurred after a period of weeks during which they complained of, or seemed to have back pain. In all three cases acute spinal cord compression by a malignant tumour was diagnosed. Histological examination revealed Ewing sarcoma, granulocytic sarcoma and T-cell lymphoma. Surgical decompression led to complete neurological recovery. Although rare, acute spinal cord compression during childhood is a medical emergency because of the risk of neurological morbidity. Back pain, weakness and a stumbling gait usually are the first symptoms. Sensory symptoms and sphincter dysfunction may develop later. Early recognition is essential, as prognosis depends on neurological findings and duration of symptoms when treatment is started.