Mild Gait Disturbance Research Articles

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated with torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with AMC5-TOR1A have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with foetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71%, with higher mortality in males. Death occurred at a median age of 1.2 months (1 week-9 years), due to respiratory failure, cardiac arrest or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A/B motif as well as biallelic truncating variants were linked to early death. In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival.

Drop foot and adult onset tethered cord syndrome caused by filum terminal ependymoma: A case report

Introduction: Filum terminal is a fibrous tissue to stabilize the position of the spinal cord, located in both intradural and extradural sections anchored caudally to the coccyx. Tumors located at the filum terminal are a rare case. Filum terminal does not have any spinal cord component, but tumours in that area can directly cause a significant neurological disorder. Case Presentation: Presenting 43 years old man with chief complaints of drop left foot and tethered cord syndromes. MR Image revealed 9,4x10mm intradural extramedullary mass at L1 with L1-L5 disc desiccation. The patient was untethered by laminectomy and underwent total mass excision. The sample was analyzed pathologically, and the results matched myxopapillary ependymoma. Pain sensation and sensory disturbance immediately improved after surgery. The urinary disorder also gradually improved. The patient was discharged without any urinary problems. After six months of follow-up, painless, mild left lower drop foot and mild gait disturbance was found without residual urinary and other neurological disorder. Conclusion: Filum terminal ependymomas need to be considered for differential diagnoses in patients with drop foot and adult-onset tethered cord syndromes.

Mildly Impaired Foot Control in Long-Term Treated Patients with Wilson's Disease.

Abnormal gait is a common initial symptom of Wilson’s disease, which responds well to therapy, but has not been analyzed in detail so far. In a pilot study, a mild gait disturbance could be detected in long-term treated Wilson patients. The question still is what the underlying functional deficit of this gait disturbance is and how this functional deficit correlates with further clinical and laboratory findings. In 30 long-term treated Wilson patients, the vertical component of foot ground reaction forces (GRF-curves) was analyzed during free walking without aid at the preferred gait speed over a distance of 40 m. An Infotronic® gait analysis system, consisting of soft tissue shoes with solid, but flexible plates containing eight force transducers, was used to record the pressure of the feet on the floor. Parameters of the GRF-curves were correlated with clinical scores as well as laboratory findings. The results of Wilson patients were compared to those of an age- and sex-matched control group. In 24 out of 30 Wilson patients and all controls, two peaks could be distinguished: the first “heel-on” and the second “push-off” peak. The heights of these peaks above the midstance valley were significantly reduced in the patients (p < 0.05). The time differences between peaks 1 or 2 and midstance valley were significantly negatively correlated with the total impairment score (p < 0.05). Gait speed was significantly correlated with the height of the “push-off” peak above the midstance valley (p < 0.045). The GRF-curves of free walking, long-term treated patients with Wilson’s disease showed a reduced “push-off” peak as an underlying deficit to push the center of mass of the body to the contralateral side with the forefoot, explaining the reduction in gait speed during walking.

Case Report: A Case of Encephalopathy Presenting the Lentiform Fork Sign on MRI in a Diabetic Dialysis Patient

Basal ganglia lesions showing an expansile high signal intensity on T2-weighted MRI are termed the lentiform fork sign. This specific finding is mainly observed in diabetic patients with uremic encephalopathy with metabolic acidosis, although there are also reports in patients with ketoacidosis, dialysis disequilibrium syndrome, intoxication, and following drug treatment (e.g., metformin). A 57-year-old Japanese man on chronic hemodialysis for 4 years because of diabetic nephropathy was admitted to our hospital for relatively rapid-onset gait disturbance, severe dysarthria, and consciousness disturbance. Brain T2-weighted MRI showed the lentiform fork sign. Hemodialysis was performed the day before admission, and laboratory tests showed mild metabolic (lactic) acidosis, but no uremia. Surprisingly, metformin, which is contraindicated for patients with end-stage kidney disease, had been prescribed for 6 months in his medication record, and his sluggish speaking and dysarthria appeared gradually after metformin treatment was started. Thus, the encephalopathy was considered to be related to metformin treatment. He received hemodialysis treatment for 6 consecutive days, and his consciousness disturbance and dysarthria improved in 1 week. At the 8-month follow-up, the size of the hyperintensity area on MRI had decreased, while the mild gait disturbance remained. Considering the rapid onset of gait and consciousness disturbance immediately before admission, diabetic uremic syndrome may also have occurred with metformin-related encephalopathy, and resulted in the lentiform fork sign, despite the patient showing no evidence of severe uremia on laboratory data.

Case Report: A Case of Encephalopathy Presenting the Lentiform Fork Sign on MRI in a Diabetic Dialysis Patient

Basal ganglia lesions showing an expansile high signal intensity on T2-weighted MRI are termed the lentiform fork sign. This specific finding is mainly observed in diabetic patients with uremic encephalopathy with metabolic acidosis, although there are also reports in patients with ketoacidosis, dialysis disequilibrium syndrome, intoxication, and following drug treatment (e.g., metformin). A 57-year-old Japanese man on chronic hemodialysis for 4 years because of diabetic nephropathy was admitted to our hospital for relatively rapid-onset gait disturbance, severe dysarthria, and consciousness disturbance. Brain T2-weighted MRI showed the lentiform fork sign. Hemodialysis was performed the day before admission, and laboratory tests showed mild metabolic (lactic) acidosis, but no uremia. Surprisingly, metformin, which is contraindicated for patients with end-stage kidney disease, had been prescribed for 6 months in his medication record, and his sluggish speaking and dysarthria appeared gradually after metformin treatment was started. Thus, the encephalopathy was considered to be related to metformin treatment. He received hemodialysis treatment for 6 consecutive days, and his consciousness disturbance and dysarthria improved in 1 week. At the 8-month follow-up, the size of the hyperintensity area on MRI had decreased, while the mild gait disturbance remained. Considering the rapid onset of gait and consciousness disturbance immediately before admission, diabetic uremic syndrome may also have occurred with metformin-related encephalopathy, and resulted in the lentiform fork sign, despite the patient showing no evidence of severe uremia on laboratory data.

Gait Impairment in Early Multiple Sclerosis

Patients with early multiple sclerosis (MS) often have normal tests of disability on clinical examination despite reporting mild gait disturbance. To

Quantitative Evaluation of Gait Disturbance on an Instrumented Timed Up-and-go Test.

Although the 3-m timed up-and-go test (TUG) is reliable for evaluating mobility, TUG time is insufficient to evaluate mild gait disturbance; we, therefore aimed to investigate other measurements with instrumented TUG (iTUG) using a free smartphone application. Our inclusion criterion in this study is only that participants can walk without any assistance. This study included three heterogeneous groups; patients who underwent a tap test or shunt surgery, 29 inpatients hospitalized for other reasons, and 87 day-care users. After the tap test, 28 were diagnosed with tap-positive idiopathic normal-pressure hydrocephalus (iNPH) and 8 were diagnosed with tap-negative. Additionally, 18 patients were assessed iTUG before and after shunt surgery. During iTUG, time and 3-dimensional (3D) acceleration were automatically recorded every 0.01 s. A volume of the 95% confidence ellipsoid (95%CE) of all plots for 3D acceleration was calculated. Additionally, an iTUG score was defined as (95%CE volume) 0.8 / 1.9 - 1.9 × (time) + 60. The measurement reliability was evaluated using intraclass correlations and Bland-Altman plots. The participants with mild gait disturbance who accomplished within 13.5 s on the iTUG time had the 95%CE volumes for 3D acceleration of ≥70 m3/s6 and iTUG scores of ≥50. The mean iTUG time was shortened and the mean 95%CE volumes and iTUG scores were increased after the tap test among 28 patients with tap-positive iNPH and after shunt surgery among 18 patients with definite iNPH. Conversely, the mean iTUG score among 8 patients with tap-negative was decreased after the tap test. The intraclass correlations for the time, 95%CE volume and iTUG score were 0.97, 0.80 and 0.90, respectively. Not only the iTUG time but also the 95%CE volume was important for evaluating mobility. Therefore, the novel iTUG score consisting both is useful for the quantitative assessment of mobility.

Action observation and gait recovery in subject with Parkinson's disease. A new motor-cognitive combined approach. A preliminary report

Action observation (AO) has been recently described as an effective strategy in stroke rehabilitation, since it can shape neural circuit reorganization, promote neural plasticity and motor learning. Very few evidences are available for rehabilitation of patients with Parkinson disease trough AO. The specific aim of this paper is to evaluate the effectiveness of action observation as an adjunctive rehabilitative tool to improve balance, gait and to reduce falls and to investigate the changes in EEG pattern duo to the treatment's effects. Prospective quasi-experimental study, pre- and post-design. Five cognitively intact participants with mild Parkinson's disease and gait disturbance were enrolled in the study. The subjects underwent a rehabilitation programme of action observation for gait and balance recovery for 30 minutes, 3 times a week for 4 weeks. The assessments were performed at the beginning (T0) and at the end of the treatment (T1). The main outcome were: the Hoehn and Yahr scale; Unified Parkinson's Disease Rating Scale (UPDRS) motor section III, Mini Mental State Examination (MMSE), Freezing of gait Questionnaire (FOG-Q), Timed Up&Go Test (TUG), Ten meters walking test (steps and seconds) (10 MWT), Berg Balance Scale (BBS), the 39-items Parkinson's Disease Questionnaire (PDQ-39), Short-Form 12-items Healthy Survey (SF-12) and Functional Independence Measure (FIM). Action observation training was feasible, acceptable, safe, and the participants completed 100% of the prescribed training sessions. The statistical analysis performed by the t -test of the T1 vs. T0 showed statistically significant improvements for UPDRS motor section III P = 0.0082, SF12 MCS P = 0.0007, FOG Q P = 0.0030, PDQ39 P = 0.100 and for P300LD P = 0.0077. No statistically significant improvements for other scales were found. AO is a feasible and safe form of rehabilitative exercise for cognitively intact people with mild PD. Further investigation regarding the long-time effectiveness of robot training is warranted.

Toe resurfacing with a thin thoracodorsal artery perforator flap

In toe reconstruction, amputation procedures are much more common than salvage procedures. However, toe resurfacing, rather than amputation, provides superior functional and aesthetic results. In this study, we report the clinical outcomes of toe resurfacing using a thin thoracodorsal artery perforator flap. Between January 2004 and June 2013, a total of 15 patients underwent toe resurfacing using thoracodorsal artery perforator flaps. Thin flaps were harvested by discarding the deep adipose layer. Twelve cases involved a great toe defect, three, a second toe defect, three, a third toe defect, and one, a fourth toe defect. Patient ages ranged from 19 to 82 years (mean, 42.9 years). The mechanism of injury varied, including crushing injury, degloving injury, and diabetic foot infection. The size of thoracodorsal artery perforator flap ranged from 4 × 3 to 20 × 8 cm2 and the thickness of the flap ranged from 4 to 9 mm (mean, 6.5 mm). All flap survived completely without complications. The mean follow-up period was 18.8 months (range, 12-60 months). Only one patient with rheumatoid arthritis had mild gait disturbance. All patients were satisfied with the aesthetic and functional results. Toe resurfacing with thin thoracodorsal artery perforator flaps appears to be a safer and more reliable option than amputation for preserving their function. © 2015 Wiley Periodicals, Inc. Microsurgery 37:312-318, 2017.

Freiburg Neuropathology Case Conference: Contrast-enhancing White Matter Lesion Adjacent to the Lateral Ventricle

a 48-year-old right handed woman presented with progressive left side hemiparesis for over 2 weeks. initially, she observed a mild gait disturbance with a weakness of her left leg, followed by a paresis of her left arm and a hemihypoesthesia of her left side. nine years earlier the patient was diagnosed with psoriasis. as a result of the discussion of this case in our interdisciplinary board, the recommendation for stereotactic serial biopsy was given to ascertain the histopathological diagnosis. The biopsy was performed as a minimal-invasive stereotactic procedure under local anaesthesia using a stereotactic frame (Riechert–Mundinger, MHT, Bad Krozingen, Germany). Under the perioperative therapy with dexamethasone an improvement of all symptoms was observed.

Clinical, Histological, and Genetic Features of Fourth Ventricle Ependymoma in the Elderly

A 71-year-old woman presented with a rare case of geriatric ependymoma originating from the fourth ventricle manifesting as progressive gait and memory disturbance. Imaging studies revealed an extraaxial mass in the fourth ventricle protruding into the right cerebellomedullary cistern, with concomitant obstructive hydrocephalus. Surgery achieved subtotal removal since the tumor tightly adhered to the right vestibular area of the fourth ventricular floor. The histological diagnosis was ependymoma, which was also confirmed by comparative genetic hybridization. Although she developed severe laryngeal edema and worsening of the hydrocephalus postoperatively which required additional treatment, she recovered with residual mild gait disturbance, and was transferred to a rehabilitation facility. Fourth ventricle ependymoma in the elderly is rare. Comparative genetic hybridization may be important in the diagnosis of geriatric ependymoma and in the choice for adjuvant therapy as well as in estimating the prognosis for patients with rare types of ependymoma.

Embryonal tumor with abundant neuropil and true rosettes (ETANTR) with loss of morphological but retained genetic key features during progression

Embryonal tumor with abundant neuropil and true rosettes (ETANTR) is a recently recognized, rare embryonal CNS tumor, which predominantly occurs in young children and is associated with a highly aggressive disease course [1–3, 5–8, 13, 14, 18, 19, 23]. The histopathological diagnosis of ETANTR is based on the presence of primitive neuroectodermal tumor cells forming distinct multilayered ‘ependymoblastic’ rosettes and characteristic neuropil islands. Recently, genome-wide analyses have revealed a novel amplification at 19q13.42 [16, 19], which is meanwhile considered the genetic hallmark of ETANTR [13, 16]. The characteristic clinical, morphological, and genetic features support the concept of a distinct CNS PNET variant and suggest its introduction to the WHO classification of Tumors of the Central Nervous System [17]. As the amplification at 19q13.42 has also been found in the vast majority of ependymoblastomas analyzed to date [13, 16], the common genetic background suggests the fusion of these two tumor types to a single entity. Herein, we report for the first time the evolution of morphological features and genetic aberrations during the disease course in a patient with ETANTR. A 33-monthold girl presented with a 6-month history of episodic headaches, increased head circumference and mild gait disturbance. Magnetic resonance (MR) imaging showed a 9.6 9 8.6 9 11.7 cm left parieto-occipital, space-occupying, partly cystic lesion displaying T1-weighted hypoto isointense signals (Fig. 1a) with cerebrospinal fluid-intense cysts on FLAIR sequence (Fig. 1b), and marked choline/ creatine increase as a sign of cell proliferation on single voxel spectroscopy (Fig. 1c). Near-total surgical resection was performed. Histopathology revealed a primitive neuroectodermal tumor with highly cellular areas. Furthermore, hypocellular neuropil islands and multilayered rosettes were

Miller Fisher Syndrome Presenting with Pain on Eye Movement

A 19-year-old man noticed a severe tingling pain associated with eye movement six days after the onset of a mild gait disturbance. The pain disappeared when his eyes were still. Physical examination revealed a full range of eye movements (although there was diplopia), mild muscle weakness in the extremities, ataxia, decreased vibration sense and areflexia. Serum anti-GA1 IgG was strongly positive, and anti-GM1 and GQ1b IgG were weakly positive. He was diagnosed with Miller Fisher syndrome and treated with intravenous immunoglobulin, whereupon his symptoms, including the tingling pain, improved within a week.

Post‐ictal psychosis in adolescent Niemann‐Pick disease type C

We describe the presentation of an adolescent with juvenile-onset Niemann-Pick disease type C (NPC) who presented with post-ictal psychosis in the context of a developing seizure disorder. After demonstrating mild gait disturbance beginning at the age of 4 years, he was diagnosed with NPC at age 12 on the basis of 95% of cultured fibroblasts staining positive for filipin and a reduced fibroblast cholesterol esterification rate. He then developed a seizure disorder at age 15, where clusters of seizures produced typical psychotic symptoms, including hallucinations and delusions. His seizure disorder responded to valproate, which resulted in a settling of his psychotic symptoms. Whilst post-ictal psychosis is rarely reported prior to the age of 16, NPC in adolescents and adults is particularly psychotogenic and may increase the risk for post-ictal psychosis in the pediatric population.

Clinical Heterogeneity in Korean Patients with Nemaline Myopathy

PurposeNemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers. The purpose of this study was to investigate the clinical diversity and pathological features of Korean patients with NM.Materials and MethodsEight patients underwent analyses of clinical manifestations by a structured protocol. Diagnoses were established by a muscle biopsy.ResultsTwo patients had the typical congenital type, which exhibited neonatal hypotonia and delayed motor milestone, and five patients had the childhood onset type, which exhibited mild gait disturbance as a first symptom. One patient had the adult onset type, which showed acute respiratory failure. Limb weakness was proximal-dominant occurred in six patients. Hyporeflexia was observed in most patients. Elongated faces and high arched palates and feet were also observed. On light microscopy, the nemaline bodies were observed in type 1 and 2 fibers. All patients showed type 1 predominance and atrophy. In the two cases in which ultrastructural studies were performed, typical nemaline rods and disorganized myofibrillar apparatus were detected.ConclusionIn conclusion, the eight Korean patients in this study with NM shared common clinical expressions such as proximal limb weakness, reduced deep tendon reflex, and dysmorphic features. This study, however, showed that clinical heterogeneity ranged from typical congenital, mildly affected childhood to the adult onset form with acute respiratory failure. The pathological findings in this study were in accordance with those of other previous reports.

Reversible uncal herniation in a neonate with a large MCA infarct

Uncal herniation due to a large cerebral infarct is well-described in adults, with high rates of morbidity and mortality. This phenomenon, however, has not been previously reported in neonates. We present a newborn male delivered via cesarean section with difficult extraction who presented with frequent seizures. He was found to have an acute left MCA territory infarct secondary to an M1 occlusion detected on MRI/MRA. He became lethargic and developed a left uncal herniation on CT at 72 h of life. He was treated medically with osmolar agents and hemodynamic support, and had resolution of the herniation on CT at 120 h of life. At 19 months he had residual moderate right hemiparesis with only mild gait disturbance and mild speech delay. As seen in this case, uncal herniation, though rare, may occur in neonates. Also, the outcome for this neonate was much better than for typical adults with a similar disease course.

Intra-Extradural Plexiform Schwannoma of the Cervical Spine

Case report. To describe the clinical and radiographic features of an extremely rare case with intra-extradural plexiform schwannoma of the cervical spine. Plexiform schwannoma is a rare neurogenic tumor that predominantly occurs in the dermis and subcutis. Noncutaneous deep-seated lesions have rarely been described. No cases of intra-extradural plexiform schwannoma of the cervical spine have previously been reported. A 16-year-old boy presented with a 3-month history of left neck and shoulder angle pain, motor weakness of the left upper extremity, clumsiness of bilateral hands, and mild gait disturbance. Preoperative magnetic resonance imaging showed a multinodular inhomogeneous dumbbell-shaped tumor encroaching on the cord at C3-C4. T1-weighted imaging showed the tumor as inhomogeneous with slightly higher intensity than muscle. T2-weighted imaging demonstrated a multinodular inhomogeneous tumor with much higher intensity than muscle, and each nodule of the tumor displayed a peripheral rim of higher intensity and central relatively lower intensity. Through hemi-laminectomy from C3-C4 and facetectomy of the left side of C3-C4, the intradural parts of the multinodular tumor were completely extirpated and extradural parts of the multinodular tumor were enucleated as much as possible. Gross examination of the tumor showed yellowish-white soft contents that were encapsulated and multilobulated. Histologic examination revealed benign schwannoma. After surgery, preoperative neurologic symptoms completely resolved. To the best of our knowledge, this is the first reported case of intra-extradural plexiform schwannoma. Careful magnetic resonance imaging might be helpful in suggesting this rare plexiform schwannoma before surgery.

Varicella zoster virus meningoencephalitis accompanied by sporadic skin lesions in an older immunocompetent adult

A previously healthy 75-year-old man complained of persistent fever, headache, nausea, mild gait disturbance, memory disorder, and sporadic vesicular skin lesions. Viral meningoencephalitis was diagnosed, based on cerebrospinal fluid (CSF) analysis. Intensive CSF analysis suggested that the patient's illness was caused by varicella zoster virus (VZV). The patient recovered completely after treatment with intravenous acyclovir. VZV infection should be considered as a possible cause of central nervous system disease, even in an immunocompetent patient. VZV reactivation was strongly suspected because of the results of anti-VZV antibody evaluations in serum and CSF, although the skin lesions were not similar to those of herpes zoster.

Early clinical signs and imaging findings in Gerstmann–Sträussler–Scheinker syndrome (Pro102Leu)

To determine the clinical and radiologic features of Gerstmann-Sträussler-Scheinker syndrome caused by Pro102Leu mutation in PRNP (GSS102). The authors report 11 patients (nine families) with clinically and radiologically diagnosed GSS102. All patients showed mild gait disturbance, dysesthesia and hyporeflexia of the lower legs, and truncal ataxia, and 9 of 11 patients showed proximal leg muscle weakness during the early stage of the disease. Dementia was not a main symptom during the early stage. Brain MRI and EEG abnormalities were not prominent initially. SPECT (N-isopropyl-p-[(123)I]iodoamphetamine) analyzed by the three-dimensional stereotactic surface projection (SSP) method detected abnormalities in five patients early during the course of the illness. SPECT findings showed diffusely decreased cerebral blood flow, demonstrated by a mosaic pattern, with the lowest perfusion noted in the occipital lobes. In contrast, blood flow to the cerebellum was preserved. These studies suggested sites of pathology in GSS102, with the main lesions probably located in the cerebrum and the spinal cord (posterior horn and spinocerebellar tract) instead of the cerebellum. Key features for early diagnosis of Gerstmann-Sträussler-Scheinker syndrome caused by Pro102Leu mutation in PRNP (GSS102) are truncal ataxia, dysesthesia and hyporeflexia of the lower legs, and mild dysarthria. Normal cerebellar MRI and abnormal cerebral SPECT findings are characters of early GSS102.

Traitement endoscopique d’un volumineux kyste bénin symptomatique de la région pinéale responsable d’une hydrocéphalie obstructive

Asymptomatic non neoplastic cysts of the pineal region are common incidental findings in adults. On the contrary, voluminous and symptomatic cysts of the pineal region are rare and their management are not well defined. We present the case of a 32-year-old woman suffering who suffered from mild intracranial hypertension, gait disturbance and vertigo for one year. The neuroradiological workup showed a voluminous cyst of the pineal region responsible for an obstructive hydrocephalus. An endoscopic etiological treatment was decided. The operation consisted in a marsupialization of the cyst in the third ventricle with a stereotactic guidance system. A frozen section of the cyst wall failed to show tumoral cells. Immediate postoperative course was uneventful. Intracranial hypertension symptoms resolved in 24 hours. Clinical examination and neuropsychological testing were normal at two years postoperatively. The two years follow-up cerebral MRI demonstrated a remnant cystic cavity without mass effect and the patency of the aqueduct of Sylvius. Endoscopic treatment of symptomatic pineal cysts constitutes an interesting therapeutic alternative in the management of this pathology.