Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis.

Leukodystrophies are a group of rare neurodegenerative disorders, usually presenting in infancy with a variable combination of cognitive, motor, and coordination impairment. Adult-onset cases are even more rare, often representing a diagnostic challenge even for experienced neurologists. Here, we present a case of a 44-year-old man with subacute and rapidly progressive spastic paraplegia, whose brain MRI revealed white matter abnormalities compatible with a diagnosis of leukodystrophy. We discuss how to apply a simplified diagnostic algorithm to distinguish acquired leukoencephalopathies from leukodystrophies and how to delve into the maze of genetic testing for white matter diseases. In our patient, we reached the diagnosis of a treatable disorder, whose early recognition is essential to prevent severe neurologic deterioration.

Very Early-Onset Alzheimer's Disease in the Third Decade of Life with de novo PSEN1 Mutations.

Mutations in Presenilin-1 (PSEN1) have been found to be associated with very early onset Alzheimer's disease (VEOAD). Here, we reported two patients with VEOAD caused by de novo PSEN1 mutations. A 33-year-old man with a de novo p.F177S mutation in PSEN1 presented with progressive decline in memory and daily function. A 37-year-old woman with a de novo PSEN1 p.L381V mutation presented with onset memory impairment, developed cerebellar syndrome, rigidity, and spastic paraparesis. The Amyloid/Tau/Neurodegeneration (ATN) biomarker profiles of both patients were A + T + (N)+. Our finding increases the genetic knowledge of VEOAD and extends the ethnic distribution of PSEN1 mutations.

Causes of lower extremity weaknesses after posterior lumbar spine fusion surgery and therapeutic effects of active surgical exploration.

BACKGROUND: This study was aimed at investigating the causes of lower extremity weaknesses after posterior lumbar spine fusion surgery and looking at subsequent treatment strategies. METHODS: Patients who underwent posterior lumbar spine fusion surgery in the Peking University First Hospital between January 2009 and December 2018 were counted. Those who needed secondary surgery because of subsequent lower extremity weaknesses were selected. CT scans and MRIs were used to evaluate the reasons for weaknesses before secondary surgery. Muscle strength was evaluated after surgery. RESULTS: Thirty patients (30/4078, 0.74%) required a secondary surgery because of lower extremity weaknesses after posterior lumbar spine fusion surgery. The main causes of weakness were (1) internal fixation malposition and loosening (11 patients, 36%), (2) epidural hematomas (9 patients, 30%), (3) insufficient decompression (5 patients, 17%), and (4) nerve root edemas (5 patients, 17%). Weakness occurred on average 2.9 days after surgery (1-9 days). Twenty-seven patients (90%) got improved muscle strength after their secondary surgery. CONCLUSIONS: Iatrogenic neurologic deficits and lower extremity weaknesses were rare complications after posterior lumbar spine fusion surgeries, but important to recognize and manage. The main causes of weakness were internal fixation malposition and loosening, epidural hematomas, insufficient decompression, or root edemas. There may be positive, therapeutic effects to subsequent, active surgical exploration.

Spastic paraparesis associated with advanced liver cirrhosis: a condition obscure in terms of treatment and prognosis.

Hepatic myelopathy or spastic paraparesis of liver disease is an insidious onset condition with pure motor spastic paraparesis without sensory, bladder or bowel involvement in patients with chronic liver disease, in which the neurological dysfunction cannot be explained by other causes. It is a rare, relentlessly progressive and mostly irreversible neurological complication resulting from portosystemic shunts occurring spontaneously, created surgically or due to 'functional shunting'. In some cases, no evidence of shunting is elicitable due to difficulty in locating the hidden collaterals. We report this rare case of a 33-year-old man with chronic liver disease presenting with spastic paraparesis after 11 months of resolution of an episode of hepatic encephalopathy.

[Intrathecal baclofen therapy in brain injury and recovery of persistent vegetative state. Apropos of a case]. / Baclofeno intratecal en daño cerebral y recuperación de estado vegetativo persistente. A propósito de un caso.

Patients with brain injury and spasticity are candidates for intrathecal baclofen therapy (ITB) when maximal doses of oral antispastic drugs fail. Some authors have described an improvement in the level of consciousness in patients with brain injury and disorder of consciousness treated with ITB for spasticity. We present the case of a 43-year-old patient with brain injury, spasticity, and permanent vegetative state (PVS) who showed an improvement in the level of consciousness after ITB for spasticity. We performed an ITB infusion test, assessing the spasticity with the Modified Ashworth Scale (MAS) and level of consciousness with the Coma Recovery Scale-Revised (CRS-R) and observed an improvement in the spasticity and the level of consciousness. Consequently, the ITB pump was implanted and the patient recovered from PVS to minimal conscious state (MCS). We conclude that ITB is indicated in patients with brain injury and spasticity. We suggest the improvement in the level of consciousness as a possible additional benefit. There is a lack of evidence to recommend ITB in patients with altered level of consciousness.

Spinal Intramedullary Epidermoid Cyst: Case Report and Updated Literature Review.

BACKGROUND: Epidermoid cysts are rare benign neoplasms within the neuroaxis and account for <1% of all intraspinal tumors. They can be congenital or acquired. Being a slow-growing tumor, the clinical presentation is widely variable depending on the location, size, or age of the patient. OBJECTIVES: Because of the rarity of this entity, the diagnosis and treatment are often delayed. We wanted to offer an updated overall view on spinal epidermoid cysts to facilitate diagnosis and treatment decisions. METHODS: We present the case of a patient with thoracic intramedullary epidermoid cyst and we conduct a review of reported cases in the literature using PubMed database. RESULTS: From 1962 to September 2019, we gathered 91 articles with a total of 139 cases (ours included). There is a slightly female predominance and a bimodal age distribution. Acquired cysts are seen in 38.1% of patients. The most frequent symptom was pain, followed by motor deficit, sensitive deficits, and sphincter deficiencies. The mean time delay to diagnosis is 26.36 ± 53.29 months. The most common localization was in the lumbar area and one third of the tumors were intramedullary. A good outcome was achieved in most of the treated cases. CONCLUSIONS: To achieve a good outcome, an early recognition of this disease is essential. The management consists in most cases of surgical resection. Although recurrence is low, it can significantly alter the quality of life of our patients, and, therefore, gross total resection should be our goal.

Acute encephalopathy followed by delayed myelopathy: A rare presentation of organophosphate poisoning.

Organophosphorus compounds (OPC) are commonly used pesticides and suicidal ingestion is a common mode of poisoning. The manifestation of OPC poisoning and its severity depend upon the type, dose and potency of the OPC consumed. Neurological presentations are well defined clinical syndromes consisting of early, intermediate and delayed manifestations (rare), categorised on the basis of time elapsed since OPC exposure. We report a rare delayed manifestation of organophosphorus poisoning in the form of pure motor spastic paraparesis due to dorsal myelopathy. A possibility of delayed manifestations of toxicity should be considered in individuals presenting with features suggestive of myelopathy and a previous history of organophosphate exposure.

Unusual Calcification in Intramedullary Epidermoid Cyst.

BACKGROUND: Calcified intraspinal epidermoids are a rare entity. We discuss the various pathogenesis and the clinical implication of such a finding during surgery. CASE DESCRIPTION: A 32-year-old female presented with progressive spastic paraparesis with incontinence. Imaging showed an unusual intralesional calcification, which was removed. Postoperatively she had no fresh deficits. CONCLUSIONS: To our knowledge this is the first reported case of spinal intramedullary epidermoid with intralesional calcification.

Intramedullary Capillary Hemangioma Presenting with Hydrocephalus and Spastic Paraparesis in 2-Month-Old Infant.

BACKGROUND: Intramedullary capillary hemangiomas are rare lesions with only 14 cases reported so far and are found in middle-aged persons. Until now only a single case has been reported in the pediatric population. Ours was the second pediatric case and the youngest of all to be diagnosed with an intramedullary capillary hemangioma. CASE DESCRIPTION: We are reporting the case of a 2-month male child who presented with features of hydrocephalus and spastic paraparesis. On magnetic resonance imaging he had features suggestive of a D10-11 intradural extramedullary lesion and hydrocephalus. We did a ventriculoperitoneal shunt followed by excision of the lesion in the same sitting. Intraoperatively it was found to be an intramedullary lesion, and histopathologic examination showed features suggestive of capillary hemangioma. Postoperatively he recovered well and there is no recurrence 18 months after surgery. CONCLUSIONS: Intramedullary capillary hemangiomas are extremely rare lesions in infants but should be kept in mind while treating any patient with the spinal lesion. Further reporting of similar cases will help in understanding the natural history, pathogenesis, and management.

Effects of a 6-month self-rehabilitation programme in addition to botulinum toxin injections and conventional physiotherapy on limitations of patients with spastic hemiparesis following stroke (ADJU-TOX): protocol study for a randomised controlled, investigator blinded study.

INTRODUCTION: Home-based self-rehabilitation programmes combined with botulinum toxin injections (BTIs) appear to be a relevant approach to increase the recommended intensive rehabilitation of patients with spasticity following a stroke. The literature highlights a lack of evidence of beneficial effects of this adjuvant therapy to reduce limitations of patients with stroke. The aim of this study is to assess the effects of a 6-month self-rehabilitation programme in adjunction to BTI, in comparison with BTI alone, to reduce limitations of patients with spasticity following a stroke. METHODS AND ANALYSIS: 220 chronic patients will participate to this multicentre, prospective, randomised, controlled, assessor blinded study. All patients will benefit from two successive BTI (3 months apart), and patients randomised in the self-rehabilitation group will perform in adjunction 6 months of self-rehabilitation at home. All patients continue their conventional physiotherapy. The main outcome is the primary treatment goal (PTG), which will be determined jointly by the patient and the medical doctor using Goal Attainment Scaling. Impairments and functions, quality of life, mood and fatigue will be assessed. Botulinum toxin will be injected into the relevant muscles according to the PTG. Patients in the self-rehab group will be taught the self-rehabilitation programme involving respectively 10 min of stretching, 10 min of strengthening and 10 min of task-oriented exercises, corresponding to their PTG. Compliance to the self-rehabilitation programme will be monitored. ETHICS AND DISSEMINATION: Patients will sign written informed consent. Ethical approval was obtained from ethics committee. The results will be disseminated in a peer-reviewed journal and presented at international congresses. The results will also be disseminated to patients. TRIAL REGISTRATION NUMBER: NCT02944929.

Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review.

Hirayama disease (HD)/cervical flexion-induced myelopathy (CFIM) is a lower motor neuron disease conventionally affecting a single upper extremity. We describe three men progressing after a long stable period to develop severe spastic paraparesis and bladder disturbances as a protracted implication of HD. The age at onset was 20, 24, and 15 years, while the age at presentation was 27, 41, and 57 years, respectively. The second phase of disease progression occurred after 4, 13, and 28 years of stationary period. All had CFIM with characteristic magnetic resonance imaging features as observed during progressive stages. The anterior dural shift extended variably from C4 to D4 levels with a median value of 5 mm and was maximum at C6 to C7 levels, pushing the cord anteriorly causing compression. This study emphasizes the need to recognize this unusual subgroup of HD and mandates long-term follow-up with timely intervention in arresting the progression/improving the deficits.

Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report.

RATIONALE: Vacuolar myelopathy is one of most common cause of spastic paresis in patients with human immunodeficiency virus (HIV) infection. However, X-linked adrenoleukodystrophy (X-ALD), which is a metabolic disorder caused by impairment of peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFA), also manifests as various neurological deteriorations including adult onset spastic paraparesis. To the best of our knowledge, there has been no report of newly developed spastic paresis due to X-ALD in a patient with HIV infection. PATIENT CONCERNS: A 30-year-old male had presented with progressive spastic paraparesis for 1 year. DIAGNOSIS: X-ALD. INTERVENTION: Brain and spine magnetic resonance imaging (MRI), VLCFA, and genetic test. OUTCOMES: His spinal MRI mimicked vacuolar myelopathy, but he was finally diagnosed with X-ALD using the VLCFA and genetic test. LESSONS: Although rare, isolated spastic paraparesis can occur in HIV patients; additional tests such as VLCFA can be useful for the differential diagnosis. More data are needed to understand the pathological mechanisms underlying the two diseases.

Epilepsy and ovarian failure: Two cases of adolescent-onset ovarioleukodystrophy.

Vanishing white matter disease (VWM) was described by Van der Knaap in 1996. This association with premature ovarian failure is known as ovarioleukodystrophy. This is a rare entity caused by a mutation in one of the subunits of eukaryotic initiation factor 2B (EIF2B). The onset in adulthood or late in adolescence is very infrequent. A 41-years-old woman and her 37-years-old sister developed epilepsy in association with premature ovarian failure at the age of 13 and 18 respectively. The oldest-one started 17 years later progressive subcortical cognitive decline with predominant behavioural disorders and a progressive spastic paraparesis in association with symmetric cystic changes in the with matter of both hemispheres. In both patients we found the c.1117C>T (p.Arg373Cys) mutation in homozygosis in the EIF2B4 gen.

Partial splenic artery embolization for severe hepatic myelopathy in cirrhosis.

Hepatic myelopathy (HM) is a devastating but rare complication of cirrhosis and portal hypertension that profoundly affects quality of life and improves only with liver transplantation. We present a case where progressive severe spastic paraparesis due to HM was substantially reversed with partial splenic artery emobilization (PSAE). (Hepatology 2018;67:1169-1171).

An epidemic of spastic paraparesis of unknown aetiology in Northern Mozambique.

This case study is based on a real-life outbreak investigation undertaken in Mozambique in 1981. This case study describes and promotes one particular approach to unknown disease outbreak investigation. Investigational procedures, however, may vary depending on location and outbreak. It is anticipated that the epidemiologist investigating an unknown disease outbreak will work within the framework of a "multidisciplinary investigation team". It is through the collaborative efforts of this team, with each member playing a critical role, that outbreak investigations are successfully completed. Some aspects of the original outbreak and investigation have, however, been altered to assist in meeting the desired teaching objectives and to allow completion of the case study in less than 3 hours.