神经系统疾病

Background: Lhermitte-Duclos is a rare hamartomatous lesion of the cerebellar cortex with both neoplastic and hamartomatous features. Also known as dysplastic cerebellar gangliocytoma, they usually occur in the setting of Cowden’s syndrome, an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs. Although enlargement of the internal granular layer of the cerebellum is a consistent finding in our case, the background setting of Cowden’s syndrome was not present in our case.

Case description: We present a unique case of LDD in the absence of Cowdens syndrome in a 58-year old gentleman who presented with cerebellar signs, a first to be reported in literature. Here we describe our clinical vignette. C

onclusion: Most of the cases of LDD, reported in literature, were associated with Cowdens disease, however our case is the first to present without Cowdens disease. To date no other similar cases have been reported in literature.

Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). Discal herniation requiring surgery is unusual in alkaptonuria, with only a few reports. The authors report the case of an elderly patient with lumbar disc herniation who underwent discectomy and in whom the nucleus pulposus was discovered to be black. Alkaptonuria was diagnosed after discectomy. The symptoms in the patient disappeared after surgery.

Protein misfolding has been implicated in a large number of diseases, which are now grouped under the name of Protein conformational disorders (PCDs). Few examples of diseases that fall in this group are Alzheimer’s disease, Parkinson’s disease and Huntington’s disease. All these disorders are characterized by sets of protein that misfold and aggregate in specific tissues. In order to identify and develop possible routes of therapeutic strategies, scientists have discovered several modifiers for these fatal diseases. These modifiers, primarily identified using models systems, include heat shock proteins, components of UPS pathway and autophagy, transcription factors, detoxifying enzymes, several RNA binding proteins, and RNA species, among other examples. These reviews will focus primarily on cellular processes that are affected in Polyglutamine disorders.

Cytoskeletal proteins, and the molecules that control their assembly/disassembly, regulate neurite and spine growth and retraction, which are necessary for normal brain function. The neuron begins as a spherical shape, then lamellipodia and filopodia form nascent neurites which differentiate into dendrites and axons. These processes, also involved in neuronal plasticity, require changes in the dynamics of the cytoskeleton proteins and their intracellular binding partners, including collapsin-response mediator proteins (CRMPs). Abnormal changes in CRMP signaling induce structural/ functional abnormalities in neurons which are characteristics of various neurological disorders. Modulation of these pathways may represent unexplored areas for treatment of these diseases.

On average, every 40 seconds, someone in the United States has a stroke. Women have a higher lifetime risk of stroke, with 1 in 5 chances during age 55-75; but they have a lower age-adjusted incidence below this age range. Migraines and hormone-releasing contraception are two relevant risk factors that contribute to the development of a stroke in women. We present a case of a 37-year-old Hispanic woman with an implantable hormonal device (Implanon®) that developed a posterior inferior cerebellar artery infarct (PICA), and during evaluation a history of intermittent migraines was noted, which was not previously diagnosed or treated by a medical provider. Clinically, the patient presented with acute vertigo, severe headache and associated neck pain, nausea, vomiting and gait instability. Brain Magnetic Resonance Imaging (MRI) revealed an acute infarct involving the right PICA territory and neck MR angiography demonstrated absent visualization of the posterior inferior cerebellar arteries bilaterally. Historically hormonal contraception has been linked to increase risk of thromboembolic events, in particular when it was associated with high doses of estrogen. The newer hormonal contraception, which now has lower estradiol levels still, has a trend to increase risk of thromboembolic events, although the results from various studies are not that clear. This rationale makes it seem plausible that the answer relies on progestin’s hemostasis effect. The combination of migraines and hormone-releasing contraception in woman <45 years of age, are not well described. We conclude that, although the hormonal implantable device and migraines individually increases the risk for cardiovascular events, their combined risk may be additive and should be considered in the appropriate clinical setting.

Background: Disorders of movement are important features of Neuro-Wilson’s disease (NWD) and their recognition helps in early diagnosis. We studied the various types of movement disorders including any novel phenomenology found in our cohort of NWD, along with radiological correlations.

Method: A total of 129 consecutive patients of WD (M:F) were examined in Movement Disorders clinic of a tertiary care neurological institute at Kolkata, India. A semi-structured interview and examination determined the various types of movement disorders detected, after proper informed consent. Neuro-imaging (MRI of 1.5 Tesla system) was carried out whenever possible.

Results: The common movement disorders were dystonia (91.8%), Parkinsonism (83.72%), and tremor (53.49%). Others were movement induced focal myoclonus (12.4%), ataxia (11.63%), choreo-athetosis (15.5%). The less frequent movement disorders were akathisia (5.2%) and tics disorder (5.42%) and oromandibular dyskinesias (2.33%). MRI lesions were found to be associated with jaw opening dystonia (caudate), neck dystonia (putamen and pons), truncal dystonia (caudate, globus pallidus and cortical atrophy), appendicular dystonia (caudate and putamen), Parkinsonism (mid-brain), postural tremor (caudate and putamen), tics and akathisia (mid-brain and pons in both).

Conclusion: WD is associated with a variety of common movement disorders such as dystonia, Parkinsonism and tremor. The less frequent movement disorders were focal myoclonus, stereotypes, tics disorders and orofacial dyskinesia . Radiological lesions can be found in association with majority of the movement disorders except in few cases where functional imaging studies may help.

Background: Intrathecal bleeding can be subdural, subarachnoid or intramedullary depending on its location. Intrathecal bleeding within the lumbar spine is seldom reported and no specific guidelines for its diagnosis and management exist. We present a case of transient paraparesis secondary to a post-traumatic lumbar intrathecal hemorrhage, which resolved spontaneously without surgical intervention.

Case description: The patient is a 66-year-old male with a PMH of chronic myelomonocytic leukemia (CMML) who underwent two lumbar punctures during the workup for newly diagnosed intracranial lesions. The patient shortly thereafter began to complain of acute onset lower extremity weakness. An MRI revealed a large ventral lumbar intrathecal hemorrhage, extending from T11 to the sacrum with canal compromise. The decision was made, after much discussion, to manage the patient conservatively without surgery. Over the course of his hospital stay, the patient’s leg strength significantly improved, and as of his three-month follow up visit, his strength was nearly back to baseline.

Conclusions: Bleeding episodes in the spine are usually epidural and most case reports have shown that in the presence of neurological deficit or deterioration, surgical evacuation is the recommended treatment. However in patients with intrathecal hemorrhage, conservative management is a viable option, especially in high-risk surgical candidates.

Background: Proximal femoral fractures present unique challenges for anaesthetic department involving the peri-operative care of large numbers of older patients with significant co-morbidities. The majority (95%) of hip fractures occur in patients over the age of 60. 75% occurring in females. More than 98% of fractures are repaired surgically, for the purposes of analgesia and early rehabilitation. Peripheral neuropathy following spinal anaesthesia is a rare complication following lower limb surgery.

Purpose: To ensure proper safety measures while giving spinal anaesthesia to the patients. Multiple attempts and faulty technique may lead to direct trauma to the spinal cord or nerve root. Material and Methods: 79 yrs old female presented to OPD with complaints of pain over left hip and unable to walk. X-ray showed IT fracture femur. Patient was admitted, investigated and fitness was taken. DHS fixation surgery was performed under spinal anaesthesia. Post-operatively patient developed DVT of the operated leg and neuropathy (loss of movement but intact sensation) of the contra-lateral leg. Low molecular weight Heparin was started for DVT along with elastic stocking to the limb and MRI was done to assess the cause for peripheral neuropathy.

Outcome: Though rare, peripheral neuropathy is a complication of spinal anaesthesia. Damage to nerve roots can occur due to faulty technique or repeated attempts for spinal anaesthesia. Prolonged hypotension following spinal anaesthesia may cause spinal cord ischemia or thrombosis of the anterior spinal artery leading to flaccid paraplegia.

Conclusion: Continuous passive physiotherapy of the lower limbs helps in complete recovery of the neuropathy but at a slow rate.

Background: Reports show that children with chronic neurological disorders (CNDs) are more prone to helminthic infestation. Major risk factors for high levels of intestinal helminthiasis such as poverty, personal hygiene and poor living conditions are common in developing countries. This study is undertaken to determine the prevalence and pattern of intestinal helminthiasis in children with CNDs in Enugu.

Methods: A total of 130 children with CNDs matched with controls were consecutively recruited. Stool samples of the children were collected and analyzed using the formolether concentration method. Worm load was determined using Stoll's technique. Student t-test was used to compare the mean age of infected subjects and controls and Chi square test for significant association of categorical variables. Statistical tests were done at the 5% level of significance and p-value less than 0.05 was considered statistically significant.

Results: The prevalence of intestinal helminthiasis among children with CNDs was 8.5% compared to 12.3% among the control group (p = 0.309). The specific intestinal helminths detected were Ascaris lumbricoides in 10 (7.7%) subjects and Trichuris trichiura in one (0.8%) subject. The mean age of subjects (6.5 ± 3.9 years) and controls (6.4 ± 3.6 years) infested with helminths compared favourably (t = 0.017, p = 0.90). There were more males (63.6%) than females (36.4%) who were infested. All infested study participants had low intensity infestation ranging from 10-60 eggs per gram of faeces. Infestation was more common in the lower and middle socio-economic classes. Method of human waste disposal, personnal hygiene, and habits such as finger sucking, nail-biting and pica did not influence the prevalence of helminthiasis in the study groups.

Conclusion: There is a low prevalence of helminthic infestation among children with chronic neurologic disorders in Enugu. This may imply that these children are not neglected in our environment as often reported

11 years old girl presented with history of on and off discharge from her upper back since childhood. Examination revealed presence of dermal sinus on her back (Figure 1). Neurological examination was normal. MRI revealed presence of track going upwards to the cervical region with presence of syrinx and diastematomyelia.

Purpose of review: Migraine attacks often follow prodrome symptoms. Prodrome symptoms are inconsistently and incompletely defined in literature. Here we define the functionality of the common prodrome symptoms and introduce additional ones that have so far eluded investigators. Prodrome types are not just symptoms but represent physiological changes that signal why a migraine may occur.
Recent findings: Migraine associated prodrome types are considered as symptoms and precursors to an oncoming migraine with or without pain.
Summary: The understanding of the function of each prodrome may help in understanding migraine, how and what needs to be treated. By understanding the function of prodrome, migraines may be averted with success.

Mucormycosis is a rare opportunistic fungal infection caused by filamentous fungi of order Mucorale. It is characterized by infection and necrosis of host tissue that is resulted from invasion of vasculature by hyphae. The genera most commonly found in human infection is Rhizopus and Mucor [1]. Based on its clinical presentation and anatomic sites invasive mucormycosis is classified into 6 clinical forms: rhino-cerebral, pulmonary, cutaneous, gastro-intestinal, disseminated and uncommon rare form such as endocarditis, peritonitis and renal infection

Background and importance: Fahr’s syndrome is also known as idiopathic calcification of the basal ganglia. It is described as a rare, degenerative, neuropsychiatric disorder characterized by seizures, extrapyramidal, and neuropsychiatric symptoms as a result of symmetric and bilateral calcifications within the basal ganglia. Involvement of the nucleus pallidus, the putamen, the dentate nucleus of the cerebellum, and the hemispheric white matter at the base of the skull, are common radiological hallmarks of this syndrome. The calcification probably occurs due to lipid deposition and demyelinization.
Clinical presentation: We present the case of a post thyroidectomy patient with hypoparathyroidism (HPT) with incidentally detected basal ganglia calcification (BGC). Retrospectively the patient was found to have hypocalcemia, secondary to a total thyroidectomy performed on her, 2 years ago. The second case was that of a 35 year old patient who presented with sudden onset of “worst headache of his life” since the previous night associated with multiple episodes of vomiting. Here we discuss our clinical dilemma and treatment strategy.
Conclusion: In presence of BGC, HPT should be investigated, especially in patients who have undergone thyroidectomy, since in the early stage, the recovery could be expedited with a precise diagnosis and prompt treatment. This case report illustrated the benefits of calcium supplementation and calcitriol, even with the patient being in advanced stage of disease.