scholarly journals A case report of spinal intramedullary lipoma

Pulse ◽  
2015 ◽  
Vol 7 (1) ◽  
pp. 50-52
Author(s):  
FA Ruby ◽  
S Ahsan ◽  
Q Hassan ◽  
M Chandy ◽  
A Parvin
Keyword(s):  
Case Report ◽  
Upper Limb ◽  
Lower Limb ◽  
Spinal Canal ◽  
Signal Intensity ◽  
Brain Mri ◽  
Cervical Cord ◽  
Diffusion Restriction ◽  
Mri Features ◽  
Weighted Sequences

3 months old boy presented with inablility to move upper limb and cries on touching the upper limb from 1 week of age. On examination reflexes were absent in upper limb but hyper reflexia was found in lower limb. Cervical and brain MRI revealed expansion of the cervical spinal canal with smoothly marginated mass within the cervical cord which is hyperintense in T1WI, T2WI and completely loses its signal intensity in FS and gradient weighted sequences. There was no diffusion restriction and appears mostly intramedullary. MRI features were consistent with intramedullary lipoma in cervical spinal cord.Pulse Vol.7 January-December 2014 p.50-52

scholarly journals Benign monomelic amyotrophy with proximal upper limb involvement: case report

2007 ◽  
Vol 65 (2b) ◽  
pp. 524-527 ◽  
Author(s):  
Marco Antonio Orsini Neves ◽  
Marcos R.G. de Freitas ◽  
Mariana Pimentel de Mello ◽  
Carlos Henrique Dumard ◽  
Gabriel R. de Freitas ◽  
...  
Keyword(s):  
Case Report ◽  
Upper Limb ◽  
Lower Limb ◽  
Clinical Manifestations ◽  
Rare Condition ◽  
Insidious Onset ◽  
Rare Location ◽  
Muscle Groups ◽  
Clinical Stabilization ◽  
The Right

Monomelic amyotrophy (MA) is a rare condition in which neurogenic amyotrophy is restricted to an upper or lower limb. Usually sporadic, it usually has an insidious onset with a mean evolution of 2 to 4 years following first clinical manifestations, which is, in turned, followed by stabilization. We report a case of 20-years-old man who presented slowly progressive amyotrophy associated with proximal paresis of the right upper limb, which was followed by clinical stabilization 4 years later. Eletroneuromyography revealed denervation along with myofasciculations in various muscle groups of the right upper limb. We call atention to this rare location of MA, as well as describe some theories concerning its pathophysiology .

scholarly journals Rare Presentation of Unilateral Weakness, Involuntary Movements and Ataxia with Subcortical T2 Hypointensity in a Diabetic Patient: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
Venkatraman Indiran ◽  
Prabakaran Maduraimuthu
Keyword(s):  
Case Report ◽  
Diabetic Patient ◽  
Upper Limb ◽  
Lower Limb ◽  
Early Identification ◽  
Common Finding ◽  
Rare Presentation ◽  
Involuntary Movements ◽  
Left Lower Limb ◽  
Unilateral Weakness

Subcortical T2 hypointensity on MRI is not a common finding. We present a case of subcortical T2 hypointensity in a diabetic patient, who was referred with weakness of left lower limb and involuntary movements and ataxia of the left upper limb. Lab reports confirmed the diagnosis of nonketotic hyperglycemia. It is rather important to identify subcortical T2 hypointensity which has only been recently found to be associated with nonketotic hyperglycemia. Early identification and prompt correction of blood sugar would help in alleviating the neurological symptoms.

scholarly journals Pelizaeus-Merzbacher Disease with Novel Variant: Case Report

2021 ◽  
Author(s):  
Isadora Souza Rocha ◽  
Paola Nabhan Leonel dos Santos ◽  
João Guilherme Bochnia Küster ◽  
Maria Angélica Vieira Lizama ◽  
Vinícius Riegel Giugno ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Case Report ◽  
Upper Limb ◽  
Brain Mri ◽  
Behavioral Disorder ◽  
Abnormal Development ◽  
Speech Impairment ◽  
Novel Variant ◽  
Plp1 Gene ◽  
Pelizaeus Merzbacher Disease

Context: Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive hypomyelinating leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene, associated with myelin sheath development and stability. The result is a broad spectrum of clinical phenotypes. Diagnosis is confirmed by genetic testing. Clinical features include hypotonia followed by progressive spasticity, nystagmus, ataxia and cognitive impairment. Males are more affected. Females are asymptomatic or present milder symptoms. Most cases arise from duplications, point and null mutations. Null mutations are associated with milder phenotypes. Brain Magnetic Resonance Imaging (MRI) may reveal hypomyelination. There is no disease modifying treatment for PMD. We aim to present the case of a woman with a novel variant of the PLP1 gene. Case report: A 38-year-old female presented with 23 years of progression of upper limb tremor, speech impairment, lower limb rigidity and urinary incontinence. She reported abnormal development of reading and writing skills. She had a brother with cognitive impairment, delayed motor development, gait disorder and generalized tonic-clonic seizures; and a sister with upper limb tremor, dysarthria and behavioral disorder. Hypomyelination was detected on brain MRI. Complete exome sequencing detected a novel likely pathogenic variant of PLP1 gene: ChrX(GRCh37):NC_000023.10:g.103041651del:NM _000533.3:c449del, p.Asp150AlafsTer10, heterozygous. Conclusions: The patient’s case resembles a milder form of PMD. This is supported by literature linking deletions and female sex to milder phenotypes. In 20 to 40% of cases with suggestive clinical findings, no PLP1 mutation is found. New studies are needed to identify other variants associated with PMD.

scholarly journals Focal dystonia, tremor and myokymic discharges secondary to electrical injury

2009 ◽  
Vol 1 (1) ◽  
pp. 2
Author(s):  
Konstantina G. Yiannopoulou ◽  
Theodoros Avramidis ◽  
Roxani Divari ◽  
Alexandros Papadimitriou
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Upper Limb ◽  
Lower Limb ◽  
Rare Complication ◽  
Focal Dystonia ◽  
Electrical Injury ◽  
First Case ◽  
Limb Muscles ◽  
Secondary Complication

We describe the case of a male patient who developed electromyographically confirmed myokymia, dystonia and tremor and clinically confirmed focal dystonia and tremor, secondary to electrical injury. Dystonia is a rare complication of electrical injury. Myokymic discharges secondary to electrical injury are previously unreported. Dystonia and tremor EMG findings were present not only at the clinically affected muscles of the lower limb but also at the clinically unaffected upper limb muscles. This is the first case report to link myokymia as a secondary complication of an electrical injury.

scholarly journals Atypical presentation of late-onset Sandhoff disease : A case report

2021 ◽  
Vol 74 (11-12) ◽  
pp. 425-429
Author(s):  
András Salamon ◽  
László Szpisjak ◽  
Dénes Zádori ◽  
István Lénárt ◽  
Zoltán Maróti ◽  
...  
Keyword(s):  
Case Report ◽  
Lower Limb ◽  
Psychiatric Symptoms ◽  
Age Of Onset ◽  
Late Onset ◽  
Brain Mri ◽  
Residual Activity ◽  
Sandhoff Disease ◽  
Limb Weakness ◽  
Hexb Gene

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.

scholarly journals Somatotopic organization of the human spinothalamic tract: in vivo computed tomography–guided mapping in awake patients undergoing cordotomy

2019 ◽  
Vol 30 (5) ◽  
pp. 722-728
Author(s):  
C. Michael Honey ◽  
Zurab Ivanishvili ◽  
Christopher R. Honey ◽  
Manraj K. S. Heran
Keyword(s):  
Spinal Cord ◽  
Upper Limb ◽  
Lower Limb ◽  
Ct Imaging ◽  
Cervical Cord ◽  
Pain Patient ◽  
Spinothalamic Tract ◽  
Somatotopic Organization ◽  
Lower Limb Pain

OBJECTIVEThe location of the human spinothalamic tract (STT) in the anterolateral spinal cord has been known for more than a century. The exact nature of the neuronal fiber lamination within the STT, however, remains controversial. After correlating in vivo macrostimulation-induced pain/temperature sensation during percutaneous cervical cordotomy with simultaneous CT imaging of the electrode tip location, the authors present a modern description of the somatotopy of the human cervical STT.METHODSTwenty patients underwent CT-guided percutaneous cervical cordotomy to alleviate contralateral medication-refractory cancer pain. Patient responses to electrical stimulation (0.01–0.1 V, 50 Hz, 1 msec) were recorded and the electrode location for each response was documented with a contemporaneous CT scan. In a post hoc analysis of the data, the location for each patient’s response(s) was measured and drawn on a diagram of their cord. Positive responses were represented only when the lowest possible voltage (≤ 0.02 V) elicited a response. Negative responses were recorded if there was no clinical response at 0.1 V.RESULTSClinically, patients did well with an average reduction in opiates of 75% at 1 week, and 67% were able to leave the palliative care unit. The size of the cervical cord varied between patients, with an average lateral extent (width) of 11 mm and a height of 9 mm. Responses from the lower limb were represented superficially (lateral) and posteriorly within the anterolateral cord. The area with responses from the upper limb was larger and surrounded those with responses from the lower limb primarily anteriorly and medially, but also posteriorly.CONCLUSIONSIn this study, the somatotopic organization of the human STT was elucidated for the first time using in vivo macrostimulation and contemporaneous CT imaging during cordotomy. In this cohort of patients, the STT from the lower-limb region was located superficially and posteriorly in the anterolateral quadrant of the cervical cord, with the STT from the upper-limb region surrounding it primarily anteriorly and medially (deep) but also posteriorly. The authors discuss how the previous methods of cordotomy may have biased the earlier versions of STT lamination. They suggest that an ideal spinal cord entry site for cordotomy of either the upper- or lower-limb pain fibers is halfway between the equator and anterior pole of the cord.

Primary Breast Angiosarcoma: Utilisation of Pre-Surgical Magnetic Resonance Imaging (MRI) for Accurate Tumour Characterization and Planning – A Case Report and Literature Review

2020 ◽  
Vol 16 ◽  
Author(s):  
Nazimah Ab Mumin ◽  
Kartini Rahmat ◽  
Marlina Tanty Ramli Hamid ◽  
Ng Wei Lin ◽  
Chan Wai Yee ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Signal Intensity ◽  
Diagnostic Delay ◽  
Digital Breast Tomosynthesis ◽  
Left Breast ◽  
High Signal ◽  
Dynamic Contrast Enhancement ◽  
Mri Features ◽  
Rare Malignancy

Background: Primary breast angiosarcoma is a rare malignancy with non-specific clinical and radiological findings. Case report: A 30-year-old lady presented with left breast pain and lumpiness over one year. She has had several breast ultrasounds (US) and was treated for acute mastitis and abscess. Subsequently, in view of the rapid growth of the lump and worsening pain, she was re-investigated with US, elastography, digital breast tomosynthesis (DBT) and MRI. MRI raised the suspicion of angiosarcoma. The diagnosis was confirmed after biopsy and she underwent mastectomy. Discussion: Literature review on imaging findings of breast angiosarcoma especially on MRI is discussed. MRI features are heterogenous low signal intensity on T1 and high signal intensity in T2. Dynamic contrast enhancement (DCE) features are either early enhancement with or without washout in the delayed phase. Some reported central areas of nonenhancement. Conclusion: This case report emphasises on the importance of MRI in clinching the diagnosis of breast angiosarcoma, and hence, should be offered sooner to prevent diagnostic delay.

scholarly journals Idiopathic myelitis presenting as Brown-Séquard syndrome: two case reports and a review of the literature

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Xi Peng ◽  
Liang Wang
Keyword(s):  
Lower Limb ◽  
Muscle Power ◽  
Case Reports ◽  
Brain Mri ◽  
Left Knee ◽  
Cervical Cord ◽  
Babinski Sign ◽  
Cord Injury ◽  
The Right ◽  
Brown Sequard Syndrome

Abstract Background Brown-Séquard syndrome often occurs in spinal cord injury, and few myelitis patients present with Brown-Séquard syndrome. Case presentation A 33-year-old Han man was admitted with neck pain plus numbness in the right limbs for 2 days and weakness in the left limbs for 1 day. Examination was significant for left limbs with grade 4 muscle power, positive left Babinski sign, diminished vibration sensation in the left limbs and decreased pain below the right clavicle dermatome. The cerebrospinal fluid (CSF) cell count was 24 × 106/L, and the protein count was 185 mg/L. Cervical magnetic resonance imaging (MRI) indicated abnormal swelling signals in the medulla-cervical cord long segment and enhanced signals in the C2-3 region. In the second case, a 47-year-old Han woman was admitted with weakness in the right lower limb and numbness in the left lower limb for more than 20 days. Examination was significant for the right lower limb with grade 4 muscle power, left knee hyperreflexia, positive left Babinski sign, diminished vibration sensation in the right lower limb and decreased pain below the right T2 dermatome. Cervical MRI indicated hyperintense and enhanced signals in the C7-T2 region. In these two cases, CSF culture, oligoclonal band (OB) and aquaporin 4 (AQP4) antibody were negative. Brain MRI was normal. Their symptoms and MRI results improved after treatment with methylprednisolone. Conclusions Myelitis can present as Brown-Séquard syndrome, providing an extended reference in terms of the differential diagnosis for clinical physicians.

scholarly journals Benign monomelic amyotrophy: a study of twenty-one cases

2000 ◽  
Vol 58 (3B) ◽  
pp. 808-813 ◽  
Author(s):  
MARCOS R.G. DE FREITAS ◽  
OSVALDO J. M. NASCIMENTO
Keyword(s):  
Upper Limb ◽  
Lower Limb ◽  
Signal Intensity ◽  
Lower Limbs ◽  
Consecutive Series ◽  
Insidious Onset ◽  
Slow Progression ◽  
Male Preponderance ◽  
Lumbar Mri ◽  
Characteristic Features

A consecutive series of 21 patients with single limb atrophy (monomelic amyotrophy) is reported. Sixteen had lower limb atrophy and five had upper limb involvement. The median age of the onset was 20 years. Characteristic features were sporadic occurrence, wasting confined to one limb, insidious onset with slow progression, stabilizing in 1 to 4 years, and absence of pyramidal signs. All the patients with upper limb involvement were male, however in our cases with lower limb amyotrophy there were no male preponderance. We observed wasting of the entire length of the lower limbs in six patients. There were nine cases with amyotrophy restricted to the leg and one with amyotrophy only in the thigh. In the upper limb in four cases the involvement was distal and in one patient the atrophy was proximal. The electromyographic features were suggestive of anterior horn disease not only in the affected limb but also, in some cases, in clinically uninvolved limb. Cervical or lumbar MRI was normal. MRI of the lower limb disclosed increased signal intensity in the gastrocnemius and soleus muscles in one patient suggesting denervation.

Sign in / Sign up

Export Citation Format

Share Document