Sphincter Disturbances Research Articles

Thoracic Spinal Cord Stab Injury: A Case Report and Literature Review

Thoracic spinal cord stab injuries are rare lesions. A 17-year-old boy was stabbed on his back by his classmate when he bent forward to pick up his cloth from the ground. On admission, he presented with: complete paraplegia with muscle strength of zero on all muscle groups, complete anesthesia from dermatome 10 and below, acute urinary retention, and a four-centimeter wound on the thoracolumbar region from which cerebrospinal fluid mixed with blood was oozing out. A high-dose methylprednisolone protocol was started (30 mg/kg in one hour and then 5.4 mg/kg over 23 hours) an indwelling urinary catheter placed and sterile dressing of the wound done. Antibiotics and analgesics were also administered. The computed tomography scanning revealed a spinal cord transection at T10-T11 level with incarceration of the broken knife blade. An emergency thoracic laminectomy was performed. Removal of the broken knife blade revealed complete spinal cord transection with a compressive hematoma within the spinal cord which was removed by smooth suction. The spinal dura was sutured and the wound closed in many layers. On day 14 after surgery, sensitivity was recovered with 3 on 5 muscle strength in both lower limbs except for both feet where motor function remained null. Urinary retention and fecal incontinence persisted. The patient was discharged from our service for a rehabilitation center. At 32-month follow-up, neurological examination was unchanged although patient noticed a slight improvement of sphincter disturbances.

44.: Tablet-based Data capture in Multiple Sclerosis (TaDiMuS)

We aimed to design a practical tool to collect validated, quantitative clinical data in an outpatient setting using tablet-based technology. A custom designed browser-based cross-platform software tool (Tablet-based Data capture in Multiple Sclerosis; TaDiMuS) was formulated to capture previously validated multiple sclerosis (MS) patient-reported outcomes (PRO) including quality of life, mood, cognitive, sleep and disability data. The tool was designed to provide a highly flexible and practical mechanism for semi-automated “waiting room data collection” for clinical and clinical trial purposes. Tight integration with an existing electronic medical record, and development of a secure server environment for the retention of raw data, was planned. TaDiMuS has been integrated into the MS Clinic at the Brain and Mind Research Institute and includes the following validated tools: MS Quality of Life Inventory, Short Form-36, MS Quality of Life 54, MS Neuropsychology Questionnaire, Neurological Rating Scale, Symbol Digit Modalities Test, Pittsburgh Sleep Quality Index, and MS Impact Scale-29. A simple user interface provides the capacity to add more tests. More than 50 patients have successfully completed selected tests from the suite of tools available in TaDiMuS. An internal secure wireless network is used to transfer data on-the-fly to the existing electronic medical record (Genie Solutions, Indooroopilly, QLD, Australia), and the results of questionnaires are made immediately available to the clinician in the form of a PDF document prior to the consultation. The use of tablet based technology in the waiting room is a highly feasible and practical method of capturing patient-reported outcomes in MS. TaDiMuS instantly provides the clinician with a broad suite of information at the time of consultation, potentially enhancing workflow efficiency and optimising the early detection and treatment of under-recognised MS complications, such as cognitive dysfunction or sphincter disturbance. The prospective collection of standardised PRO in the clinical setting will facilitate the inclusion of this data in future phenotyping studies that patients may elect to participate in. Prospective MS clinical trials that incorporate TaDiMuS are planned. We aimed to design a practical tool to collect validated, quantitative clinical data in an outpatient setting using tablet-based technology. A custom designed browser-based cross-platform software tool (Tablet-based Data capture in Multiple Sclerosis; TaDiMuS) was formulated to capture previously validated multiple sclerosis (MS) patient-reported outcomes (PRO) including quality of life, mood, cognitive, sleep and disability data. The tool was designed to provide a highly flexible and practical mechanism for semi-automated “waiting room data collection” for clinical and clinical trial purposes. Tight integration with an existing electronic medical record, and development of a secure server environment for the retention of raw data, was planned. TaDiMuS has been integrated into the MS Clinic at the Brain and Mind Research Institute and includes the following validated tools: MS Quality of Life Inventory, Short Form-36, MS Quality of Life 54, MS Neuropsychology Questionnaire, Neurological Rating Scale, Symbol Digit Modalities Test, Pittsburgh Sleep Quality Index, and MS Impact Scale-29. A simple user interface provides the capacity to add more tests. More than 50 patients have successfully completed selected tests from the suite of tools available in TaDiMuS. An internal secure wireless network is used to transfer data on-the-fly to the existing electronic medical record (Genie Solutions, Indooroopilly, QLD, Australia), and the results of questionnaires are made immediately available to the clinician in the form of a PDF document prior to the consultation. The use of tablet based technology in the waiting room is a highly feasible and practical method of capturing patient-reported outcomes in MS. TaDiMuS instantly provides the clinician with a broad suite of information at the time of consultation, potentially enhancing workflow efficiency and optimising the early detection and treatment of under-recognised MS complications, such as cognitive dysfunction or sphincter disturbance. The prospective collection of standardised PRO in the clinical setting will facilitate the inclusion of this data in future phenotyping studies that patients may elect to participate in. Prospective MS clinical trials that incorporate TaDiMuS are planned.

61.: Dorsal thoracic arachnoid web and the scalpel sign

We draw attention to a recently described radiological sign which will aid early identification of this rare type of intradural extramedullary thoracic spine disorder. We report three patients from a tertiary hospital in New Zealand with myelopathy due to dorsal thoracic arachnoid web, the unique radiological features, intraoperative findings and histology. The radiological “scalpel sign” was demonstrated in all three patients (two men and one woman, aged 40–50 years) with spastic paraparesis, thoracic spinal sensory level and sphincter disturbances. All patients underwent surgery with radiological improvement and subsequent resolution of symptoms. Dorsal thoracic arachnoid web is a rare but potentially curative form of thoracic myelopathy, which if identified and corrected early appears to result in good functional outcome.

The clinical outcome of lateral mass fixation after decompressive laminectomy in cervical spondylotic myelopathy

Lateral mass cervical fixation is the technique of choice for posterior cervical stabilization of the lower cervical spine in the cases of cervical spondylotic myelopathy. It is used for patients who had extensive, multiple-level laminectomies with reversed cervical lordosis. ObjectiveThe aim of this study was to evaluate the outcome of decompressive laminectomy of cervical spondylotic myelopathy with lateral mass fixation compared with decompressive laminectomy only without fixation. Patients and methodsThe study was conducted on 32 patients operated for cervical decompressive laminectomy with lateral mass fixation using polyaxial screws and rods at different levels of the subaxial cervical spine named group I, compared with 30 patients operated for cervical decompressive laminectomy only without lateral mass fixation named group II. ResultsGroup I comprised 22 males (68.8%) and 10 females (31.2%), the age ranged from 36 to 63 years. Group II comprised 18 males (60%) and 12 females (40%), the age ranged from 40 to 66 years with a mean of 51 ± 7.73. In group I, the mean operative time was 110 ± 14.16 min, the mean hospital stay was 4 ± 1.76 days and the mean blood loss was 480 ± 193.04 ml. In group II, the mean operative time was 75 ± 24.38 min, the mean hospital stay was 3 ± 1.57 days, and the mean blood loss was 220 ± 111.22 ml. There was a clinically significant difference as regards neck pain and brachialgia. In group I, neck pain improved in 68.8% and brachialgia improved in 83.3% but in group II, neck pain improved in 46.7% and brachialgia improved in 61.5%. Myelopathy and sphincteric disturbance showed clinical improvement but without clinically significant difference of both groups. ConclusionsLateral mass fixation of the cervical spine after cervical laminectomy is safe and reliable with few complications. It also improves neck pain and brachialgia.

Dynamic MRI testing of the cervical spine has prognostic significance in patients with progressive upper-limb distal weakness and atrophy

BackgroundThe syndrome of isolated progressive upper-limb distal weakness and atrophy results from disease processes affecting lower motor neurons originating in the cervical anterior horn gray matter. Lower motor neuron dysfunction restricted to the C7–T1 myotomes in the absence of neuropathy, upper motor neuron signs, sphincter disturbances or abnormality on conventional MR imaging is suggestive of either Hirayama disease (HD), or the initial manifestation of a progressive motor neuron disease such as amyotrophic lateral sclerosis (ALS). In HD the supposed etiologic mechanism is a mechanical compression of the cervical spinal cord during neck flexion; therefore, dynamic MRI (dMRI) of the cervical cord might help differentiate between these possibilities. MethodsThis was a multi-center observational cohort study. Over a 4-year period between 8/2009 and 8/2013, 22 patients were identified as having a disease consistent with HD. We identified a subgroup of patients suspected of suffering from active progressive disease and prospectively followed them after performing dynamic MRI studies of the cervical spine. ResultsTwenty-two patients were identified as having a disease consistent with HD, of whom 8 were defined as having actively progressive disease. Seven of these 8 patients demonstrated clear dynamic compression of the cervical spine during neck flexion. The patient who did not demonstrate the typical MRI changes associated with HD went on to develop generalized ALS. ConclusionsdMRI has a practical role in patients presenting with progressive upper-limb distal weakness and atrophy, and the presence of characteristic changes typical of HD may suggest a more optimistic prognosis.

Paraplegia - Possible sequelae of infected venous access site

Background: Hospital practices of present day mostly require a peripheral venous access for a patient. Most times improper handling of these access sites results in thrombophlebitis, a reason for febrile spikes. Aim: To notify amongst health care workers, how dreadful the consequences could be due to improper handling of peripheral venous access sites. Findings: We had an interesting case of a young manual labourer treated elsewhere for over a week for fever who presented to us with painful swelling of the right forearm, suggestive of thrombophlebitis. Initial investigations suggested neutrophilic leukocytosis and biochemistry was normal. High grade fever persisted even on third day, developed severe neck tenderness and radicular pain and subsequently he developed acute quadriparesis. The initial blood culture showed Staphylococcus aureus . MRI of neck showed an epidural abscess from mid cervical to lumbar level, which was immediately drained and decompressed. With neuro-rehabilitation he regained his upper limb functions partially, but continued to have paraplegia and sphincter disturbances.

An elderly woman with leg weakness

An 85-year-old woman presented to hospital in March 2012 for evaluation of left leg weakness. On the day of admission she had noticed weakness and clumsiness in the left leg...

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome mapping and exome sequencing, we identified three mutations in REEP2 in two families with HSP: a missense variant (c.107T>A [p.Val36Glu]) that segregated in the heterozygous state in a family with autosomal-dominant inheritance and a missense change (c.215T>A [p.Phe72Tyr]) that segregated in trans with a splice site mutation (c.105+3G>T) in a family with autosomal-recessive transmission. REEP2 belongs to a family of proteins that shape the endoplasmic reticulum, an organelle that was altered in fibroblasts from an affected subject. In vitro, the p.Val36Glu variant in the autosomal-dominant family had a dominant-negative effect; it inhibited the normal binding of wild-type REEP2 to membranes. The missense substitution p.Phe72Tyr, in the recessive family, decreased the affinity of the mutant protein for membranes that, together with the splice site mutation, is expected to cause complete loss of REEP2 function. Our findings illustrate how dominant and recessive inheritance can be explained by the effects and nature of mutations in the same gene. They have also important implications for genetic diagnosis and counseling in clinical practice because of the association of various modes of inheritance to this new clinico-genetic entity.

Is age an effect modifier in the relationship between HAM / TSP and depression?

It is estimated that depression occurs in approximately 30% of people living with HTLV-1. Nevertheless, the association between depression and TSP/HAM is still controversial. We have investigated if age plays a role in the association between HAM/TSP and depression among people living with HTLV-1 from Salvador, Brazil. A convenience sample was selected and 107 people infected with HTLV-1 (ELISA and W.Blot): asymptomatic = 60, (56.1%) and HAM / TSP = 47, (43.9%), were enrolled in a cross-sectional study conducted between March and November 2009 at the HTLV reference Center Bahiana School of Medicine. The instruments employed were a questionnaire, used for the collection of Clinical and epidemiological data and the Mini International Neuropsychiatric Interview, Brazilian Version 5.0.0 (M.I.N.I.), for the diagnosis of depression. HAM/ TSP was classified according to ascertainment level (probable and definite) criteria. Prevalence ratios (PR) were calculated according to gender, age, marital status, ethnicity, income and education. To analyze the effect modification, we used the homogeneity test MantelHaenzael. The prevalence of depression was 39.4 % (41/107). Overall, no significant association was observed between HAM / TSP disease and major depression. However, we found a positive association between HAM / TSP and major depression among patients aged 18 to 39 years compared to individuals >40 years (PR: 2.59, 95% CI :1.36-4. 95). The association between HAM/TSP and depression, in this age group, may occur because younger patients may be more affected by HAM / TSP symptom such as gait difficulties, erectile dysfunction and sphincter disturbances.

Spinal cord involvement in patients with cirrhosis

A severe spinal cord involvement may rarely occur in patients with cirrhosis and other chronic liver diseases; this complication is usually associated with overt liver failure and surgical or spontaneous porto-systemic shunt. Hepatic myelopathy (HM) is characterized by progressive weakness and spasticity of the lower extremities, while sensory and sphincter disturbances have rarely been described and are usually less important. The diagnosis is assigned in the appropriate clinical setting on clinical grounds after the exclusion of other clinical entities leading to spastic paraparesis. Magnetic resonance imaging is often unremarkable; however, also intracerebral corticospinal tract abnormalities have been reported recently. The study of motor evoked potentials may disclose central conduction abnormalities even before HM is clinically manifest. HM responds poorly to blood ammonia-lowering and other conservative medical therapy. Liver transplantation represents a potentially definitive treatment for HM in patients with decompensated cirrhosis of Child-Pugh B and C grades. Other surgical treatment options in HM include surgical ligation, shunt reduction, or occlusion by interventional procedures.

Lumbar Cystic Intradural Schwannoma: A Case Report

Background Data: Intradural lumbar cystic schwannomas are very rare entity and only about 10 case reports have been reported in the literature. The diagnosis and management remains a challenge for clinical physicians.Purpose: Our objective in presenting this particular case is to highlight the atypical radiological features of intradural spinal schwannoma and how to deal with it surgically and follow up. Study Design: case report. Material and Methods: A case of cystic intradural lesion in a previously healthy 29 years old male is reported. Low back pain and lately right sciatica were the only symptoms. After pre-operative evaluation and preparation, this patient was operatedon prone position under general anesthesia. Results: Although the lesion originates from nerve tissue, only 50% of cases have a direct relation with the nerve. Hence complete excision without sacrificing nerve roots is usually feasible and is curative in most cases as in our case. The patient recovered totally intact without any motor, sensory or sphincteric disturbance. The postoperative histological picture of cystic schwannoma, which was not in the preoperative list of differential diagnoses, is discussed. Conclusion: A successful surgical outcome depends on early diagnosis [beforeneurological damage has occurred], meticulous investigation [on any intractable nonspecific low back pain], and complete excision. (2014ESJ066)

Widely Disseminated Neuroblastoma Presenting as Acute Flaccid Paralysis in a Two Year Old Child: A Clinical Dilemma

Introduction: Neuroblastoma is a tumor derived from primitive cells of sympathetic nervous system and is the most common solid tumor in childhood. Most of them (75%) arise from either adrenal and rest usually in midline from pre-sympathetic ganglia. Here we present an interesting and rare presentation of neuroblastoma masquerading as acute flaccid paralysis. Case brief: A two year child presented with history of insidious onset fever and increasing weakness of bilateral lower limbs along with sphincter disturbance. On examination the child had loss of tone and power in both lower limbs with absent deep tendon reflexes. There was also sensory loss below the level of umbilicus. The upper limbs and neck muscles were normal. Significant cervical lymphadenopathy was also noted along with a palpable globular swelling in upper thoracic area posteriorly. The child was immunized as per age and stool examination for poliovirus was negative. A tubercular work-up was also negative. MRI of whole spine and abdomen showed left adrenal SOL. In addition, extensive pre and paravertebral masses with intraspinal extension and extradural soft tissue choloroma posteriorly were noted, causing cord compression and odema, consistent with a diagnosis of neuroblastoma. Case discussion: The present case highlights extensive neuroblastoma extensions and multifocality involving majority of lower cervical and thoracic spinal column, leading to compressive myelopathy. The clinical presentation as acute flaccid paralysis with fever suggested a transverse myelitis like picture requiring work-up for underlying common viral and other infectious causes. However in these cases an emergency MRI/CT is must to rule out compressive cord lesions.

Sparganosis Presenting as Cauda Equina Syndrome with Molecular Identification of the Parasite in Tissue Sections

A 52-year-old woman presented with lower back pain, progressive symmetrical paraparesis with sensory impairment, and sphincter disturbance. Magnetic resonance imaging (MRI) of the whole spine revealed multiple intradural extramedullary serpiginous-mass lesions in the subarachnoid space continuously from the prepontine to the anterior part of the medulla oblongata levels, C7, T2-T8, and T12 vertebral levels distally until the end of the theca sac and filling-in the right S1 neural foramen. Sparganosis was diagnosed by demonstration of the sparganum in histopathological sections of surgically resected tissues and also by the presence of serum IgG antibodies by ELISA. DNA was extracted from unstained tissue sections, and a partial fragment of mitochondrial cytochrome c oxidase subunit 1 (cox1) gene was amplified using a primer set specific for Spirometra spp. cox1. After sequencing of the PCR-amplicon and alignment of the nucleotide sequence data, the causative agent was identified as the larva of Spirometra erinaceieuropaei.

Transverse myelitis and acute motor sensory axonal neuropathy due toLegionella pneumophila: A case report

Guillain-Barré syndrome is a rapidly progressive symmetrical muscle weakness associated with acute inflammatory disease. Transverse myelitis (TM) is the inflammation of the spinal cord characterized by rapidly evolving muscle weakness in the lower extremities, defects in sensory level and sphincter dysfunction. Guillain-Barré syndrome, and TM association occurs very rarely in childhood. A 7-year-old girl presented with complaints of neck pain, spout-style vomiting, cough, shortness of breath, and acute paraparesis with sensory and sphincter disturbance. The patient was intubated because of increased respiratory distress. A positive direct fluorescein antigen test in bronchoalveolar lavage confirmed Legionella pneumophila infection. Imaging and neurophysiologic studies were diagnostic for TM with acute motor and sensory axonal neuropathy. She was treated with a combination of high-dose methylprednisolone and intravenous immunoglobulins, and we observed incomplete recovery. The presented case is the first child with concomitant TM and acute motor and sensory axonal neuropathy related to L. pneumophila infection.

AN UNUSUAL CASE OF PROGRESSIVE CEREBELLAR ATAXIA

IntroductionAtaxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder due to mutations in the senataxin gene resulting in progressive cerebellar ataxia, peripheral neuropathy and occasional oculomotor apraxia.1...

Clinical cerebral dysfunction sclerosis in Africa

WCN 2013 No: 1209 Topic: 2 — Movement Disorders Exercise training — Effects of MOTOmed® exercise on typical motor dysfunction in Parkinson's disease M. Laupheimer, S. Hartel, S. Schmidt, K. Bos. Institut fur Sport und Sportwissenschaft, Karlsruhe, Germany Objective: Additionally to regular medication, alternative drug-free treatments, such as exercise or physical therapy, do not cause any side effects and play an important role in Parkinson's treatment. Recent scientific findings suggest very positive effects of movement training at high cadence, the so-called “Forced Exercise” (FE). The present paper investigates the effects of a home-based passive FE cycling training on general motor function and quality of life in Parkinson's patients. Patients & methods: 44 Parkinson's patients (68.5 ± 7.8 years) were randomized to control group (n= 23; age: 71.3 ± 4.0 years) and intervention group (n= 21; age: 67.5 ± 7.8 years). The intervention group completed a 10 week FE cycling program with a motor-assisted movement therapy device. The subjects were encouraged to perform a daily 40 minute MOTOmed® training session, at up to 90 revolutions per minute, in addition to their regular therapy (medication and physical therapy). Motor function and quality of life measures were assessed three times during the study period, a total of 25 test items were recorded (TMTBattery = 15items, tremor spiral test = 2 items, PDQ-8 = 8 items). Subjects of the control group continued their standard therapy. Results: The results of the study show significant improvements in walking ability (walking time: F = 13.31; p = .000; p.Eta2 = .241; walking steps: F = 6.44; p= .000; p.Eta2= .133) and hand coordination (diadochokinesia of the right arm: F= 3.76; p= .03; p.Eta2= .082). Conclusion: Device-supported FE movement training of the lower extremities leads to improvements in walking ability and hand motor function, which suggest that FE may be affecting central motor control processes. To proof these findings the authors recommend further studies. doi:10.1016/j.jns.2013.07.411 Abstract — WCN 2013 No: 1232 Topic: 2 — Movement Disorders Clinical cerebral dysfunction sclerosis in Africa WCN 2013 No: 1232 Topic: 2 — Movement Disorders Clinical cerebral dysfunction sclerosis in Africa A.E. Bukusi, R.N. Mbugua. Researcher (Global Mental Health), Kenya Neurological Society, Kenya; Clinical Research, Kenya Medical Research Institute, Nairobi, Kenya Objective: To report on the occurrence of clinical cerebral dysfunction sclerosis. Methods/subjects: All the patients referred to the clinic by neurologists and other specialists for electrophysiological tests with diverse neurological complaints. The patients were examined and diagnosed as having sclerosis on clinical grounds and established criteria are reported. Results:Out of 2831patients referred for electrophysiological tests over a ten year period, nine patients were diagnosed as having definite sclerosis on clinical grounds. Four of these had supporting laboratory findings (MRI scans, CSF studies and visual evoked responses). The presenting symptoms were predominantly visual disturbances and somatic sensorimotor disturbances which were seen in all the patients. Cerebellar dysfunction was observed less frequently, in less than half of the patients while sphincter disturbances were conspicuously rare. The sex distribution was overwhelmingly in favour of the female at a ratio of 7:2. Conclusions: Cerebellar dysfunction sclerosis occurs most in African countries and may not be as rare as previously suggested and its prevalence is certainly on the increase. The development of higher incidence rates in communities where the illness was previously unknown may present opportune settings for the study of aetiological factors of this illness as it emerges. There is a need therefore for proper epidemiological studies to evaluate these factors, especially environmental factors, as the new disease continues to appear. doi:10.1016/j.jns.2013.07.412 Abstract— WCN 2013 No: 343 Topic: 2 — Movement Disorders A long-term, open-label study of levodopa–carbidopa intestinal gel in advanced Parkinson's disease patients: Functional and health-related quality-of-life endpoints WCN 2013 No: 343 Topic: 2 — Movement Disorders A long-term, open-label study of levodopa–carbidopa intestinal gel in advanced Parkinson's disease patients: Functional and health-related quality-of-life endpoints D.G. Standaert, H.H. Fernandez, P. Odin, R.A. Hauser, A.J. Espay, M. Steiger, S. Chouinard, O. Suchowersky, E. Yakupov, E.P. Merikle, W.Z. Robieson, K. Chatamra, J. Benesh. University of Alabama at Birmingham, Birmingham, AL, USA; Cleveland Clinic, Cleveland, OH, USA; Klinikum-Bremerhaven, Bremerhaven, Germany; Skane University Hospital, Lund, Sweden; University of South Florida, Tampa, FL; University of Cincinnati Academic Health Center, Cincinnati, OH, USA; Walton Centre for Neurology and Neurosurgery, Liverpool, UK; University of Montreal, Montreal, QC, Canada; University of Alberta, Edmonton, AB, Canada; Kazan StateMedical University, Kazan, Russia; AbbVie Inc., North Chicago,

Split cord malformation types I and II: a personal series of 131 patients

A personal series of 131 patients with split cord malformation (SCM) operated on is presented. Age, gender, symptoms and signs, radiological and operative findings, complications, associated anomalies, outcome, and pathological specimens were analyzed. There were 88 girls (73 %) and 43 boys (27 %). The female predominance was slightly more remarkable in type I SCMs than in type II SCMs. The presenting symptoms can be summarized as skin lesions, spina bifida aperta, scoliosis or kyphoscoliosis, sphincter disturbance, foot deformities and weakness, and/or atrophy in the lower extremities. The ages of patients with neurological deficits and orthopedic deformities were significantly older than those without deficits (P = 0.030). The duration of symptoms was longer in the patients with neurological deficits and orthopedic deformities than that in those without deficits (P = 0.00095). In six patients, composite SCMs were present. Only one patient with a type II SCM did not have an associated spinal cord lesion. A type I SCM was more frequently encountered in patients with spina bifida (P < 0.0005). Transient postoperative complications were seen in 29 patients (22 %). There was no permanent complication. Retethered cord syndrome developed in five patients with a type I SCM. The risk of neurological and orthopedic deficits increases with the age of the patient. The risk of permanent deficit after surgery is very low. The whole spine must be examined for additional lesions. All patients should be surgically treated when diagnosed, especially before the development of orthopedic and neurological manifestations, and all associated lesions should also be treated at the same session.

Pure psychiatric presentation of Fragile X‐associated tremor/ataxia syndrome

Fragile X syndrome is a leading cause of intellectual disability in childhood related to the presence of more than 200 repeats of CGG triplets in the FMR1 gene [1]. By contrast, premutation carriers (number of CGG triplets between 55 and 200) have normal development but are at high risk of developing in their late adulthood the so-called Fragile Xassociated tremor/ataxia syndrome (FXTAS) [2]. This syndrome is characterized by late-onset cerebellar ataxia and intention tremor often associated with executive dysfunction. Other frequent clinical manifestations are parkinsonism, psychiatric symptoms, peripheral neuropathy and lower limb weakness [2–4]. The case of a patient affected by FXTAS whose presentation was psychiatric, without tremor and without ataxia, is reported. A 66-year-old right-handed man was referred for behavioural disturbances. He had been in good health until 10 years ago when he presented a first major depressive episode that lasted several months under antidepressant drugs. Three years before admission, his wife began complaining of short lasting episodes of sudden irritability and aggressive behaviour. He was treated by tianeptin and bromazepam for ‘atypical’ depression, but the symptoms kept worsening. His wife became frightened to stay alone with him. Antipsychotic drugs were prescribed with partial efficacy. A few weeks before admission, the patient saw an ear, nose and throat specialist for brief episodes of vertigo. A benign paroxysmal positional vertigo was diagnosed and a brain MRI was systematically prescribed, which revealed symmetrical abnormalities in the cerebellum. The patient was referred to our neurological department. He was kind and alert. His speech was adapted and coherent. He had no particular complaint but admitted having difficulties controlling himself on some occasions. On examination, motor and sensory testing was unremarkable. He had no rest, postural or intention tremor in either hand. He had no truncal or segmental ataxia but a slightly wide-based gait. Tandem walking was possible. Muscle tone and oculomotor movements were normal. There was no dysarthria, sphincter disturbances or orthostatic hypotension. Mini-mental state examination score was 28/30. He performed the clock drawing test well but otherwise showed mild dysexecutive symptoms and reduction of speed processing. Evaluation by a psychiatrist revealed no personality disorder but some elements of delusional jealousy, without depressed mood. The aspect of brain MRI was that of global brain atrophy with large ventricles and typical hyperintense signal in both middle cerebellar peduncles (Fig. 1). The diagnosis of FXTAS was considered. Data about the patient’s family were scarce as they were living in Algeria. He was an only child, but his mother had two daughters and two sons from another marriage. One of his half-brothers had three daughters, one of whom had two sons with severe behavioural disturbances in childhood. The other one had two daughters, one of whom had a son with severe intellectual disability. Genetic testing with both PCR and southern blot methods confirmed a premutation in the FMR1 gene with 95 repeats of the CGG triplet. The potential links between FMR1 premutation and psychiatric comorbidities are under debate [5]. Here, the appearance after the age of 50 of atypical psychiatric symptoms strongly suggests a causal link with the presence of the premutation. More generally, physicians must pay attention to familial history of both psychiatric and neurological symptoms when facing late-onset atypical psychiatric symptoms. Because the prevalence of the Fragile X premutation is high in the general population (estimated around one in 813 in males and one in 259 in females [2]), general neurologists should be aware of this diagnosis. Genetic counselling does not only involve the patient but also his whole family, as his daughters are obligate carriers. This was particularly true in the present case, as two of his daughters were actively considering pregnancy.

English

Background: Acute flaccid motor paralysis is a common neurological emergency with diverse causes and variable outcome. There is paucity of reports documenting the clinical profile of hypokalemia paralysis in neurological practice. AIMS: To study the clinical features, etiology and correlation of hypokalemia with ECG changes and outcome of the subjects with hypokalemic paralysis in a tertiary care teaching hospital in central India. MATERIALS AND METHODS: This study encompassed consecutive subjects with acute flaccid paralysis with hypokalemia from 2009 to 2011. Subjects with Gullain Barre syndrome (GBS), porphyria were excluded. Detailed clinical examination, urine analysis, renal function tests and ECG were carried out. Patients received intravenous or oral potassium supplementation and the underlying causes were treated. STATISTICAL ANALYSIS: The data were analyzed by Fisher exact test, correlation and coefficient test, using EPI Info software. RESULTS: Thirty patients aged 19 to 55 years, including 21 males 09 females were included. Secondary causes such as diarrhea were preset in 23 patients and cause could not be found in 6 patients. All the patients had quadriparesis and (MRC) grade (0 to IV). Deep tendon reflexes were reduced in all patients. Respiratory paralysis occurred in one patient. All patients had potassium levels between patients with severe 0.9 to 3.4mg/L. All patients had ECG change of hypokalemia. More sever hypokalemia needed longer time to recover. One patient died because of respiratory failure. CONCLUSION: Diagnosis of hypokalemic acute paralysis should be considered in any patient presenting with sudden onset, aflexic, pure motor weakness involving one or more limbs without alteration in level of consciousness or sphincter disturbances. It is imperative for physicians, particularly those working in acute care setting, to be aware of this condition.

Clinical Reasoning: A 39-year-old man with abdominal cramps

A 39-year-old lawyer presented with intermittent spasms and pain in his abdominal muscles, particularly the right upper quadrant. These had occurred since his mid-20s and there had been long asymptomatic periods, including 8 years prior to the most recent 4-month exacerbation. Trivial movement triggered a spasm of the abdominal muscles, leading to severe pain, which made breathing uncomfortable and interfered with sleep. The symptoms subsided spontaneously after 4 to 5 days, leaving him with a sore abdomen for several weeks. Past attacks had also been precipitated by specific forms of repetitive exercise such as jogging. He described ill-defined numbness in the left leg, but denied any muscle twitching, weakness, back pain, or sphincter disturbance. There was no significant past medical or family history.