scholarly journals CASE REPORT OF ADULT-ONSET CHARCOT MARIE TOOTH TYPE X

2022 ◽  
Vol 8 (1) ◽  
pp. 68-71
Author(s):  
Richard Suherlim ◽  
Anak Agung Ayu Putri Laksmidewi ◽  
Sudiarini NKA
Keyword(s):  
Histopathological Examination ◽  
Clinical Manifestations ◽  
Sensory Neuropathy ◽  
Nerve Biopsy ◽  
Suspected Case ◽  
Charcot Marie Tooth ◽  
Neurology Clinic ◽  
Sensory Disturbances ◽  
Magnetic Resonance Imaging Mri ◽  
Hands And Feet

Charcot-Marie-Tooth (CMT) or Hereditary Motor and Sensory Neuropathy (HMSN) is the most common hereditary peripheral nerve disease with progressive chronic weakness, muscle atrophy, and sensory disturbances. There are several types and subtypes of CMT with their respective clinical manifestations. In this article, we reported a patient with of CMT type X. A 43-year-old male patient was referred to a neurology clinic with weakness in both limbs for 2 years, accompanied by tingling and sensory disturbance in both hands and feet. There are several of his family members who had similar complaints. Lumbosacral magnetic resonance imaging (MRI) examination revealed mild nucleus pulposus herniation. Electroneuromyography (ENMG) examination revealed demyelinating sensory motor polyneuropathy. Histopathological examination of nerve biopsy showed demyelination of the sural nerve. It is hard to make a diagnosis of CMT, because it requires high suspicion from clinicians once encounter a suspected case and also need to supported by sophisticated equipment such as electrophysiological examinations, nerve biopsy examinations, and genetic examinations. It is vital for clinicians for being able to diagnose CMT correctly and provide treatment as soon as possible in order to maintain the patients’ quality of life.

scholarly journals Autosomal dominant HMSN with proximal involvement: new Brazilian cases

2009 ◽  
Vol 67 (3b) ◽  
pp. 892-896 ◽  
Author(s):  
Cristiane Borges Patroclo ◽  
Angelina Maria Martins Lino ◽  
Paulo Eurípides Marchiori ◽  
Mário Wilson Iervolino Brotto ◽  
Maria Teresa Alves Hirata
Keyword(s):  
Serum Lipids ◽  
Autosomal Dominant ◽  
Phenotypic Variability ◽  
Electrophysiological Study ◽  
Sensory Neuropathy ◽  
Nerve Biopsy ◽  
Sural Nerve Biopsy ◽  
Muscle Enzymes ◽  
Sensory Disturbances ◽  
Original Report

We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.

scholarly journals Ligamentum Flavum Hematoma Associated with L5–S1 Pars Interarticularis Defect: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Kenan Kıbıcı ◽  
Berrin Erok ◽  
Ahmet Çolak
Keyword(s):  
Nerve Root ◽  
Ligamentum Flavum ◽  
Histopathological Examination ◽  
Clinical Manifestations ◽  
Spinal Instability ◽  
Surgical Removal ◽  
Nerve Root Compression ◽  
Left Posterior ◽  
Pars Interarticularis ◽  
Magnetic Resonance Imaging Mri

AbstractLigamentum flavum hematoma (LFH) is an extremely rare compressive epidural lesion of the spine. The clinical manifestations of LFH are similar to that caused by other more common pathologies of nerve root compression like disc herniation. In the diagnosis, magnetic resonance imaging (MRI) is very important but challenging due to the changing intensities of the hematoma in relation to the stages of the aging blood. Herein, we report a case of LFH compressing the spinal canal in a 60-year-old man with pars interarticularis defect. He presented with low back pain radiating to the left leg. The neurological examination was consistent with left S1 nerve root compression. The MRI revealed a left posterior epidural mass compressing the thecal sac and S1 nerve root at the left L5–S1 level near the pars interarticularis defect. After surgical removal of the lesion, histopathological examination confirmed the diagnosis of LFH. Following surgery, he recovered rapidly. LFH due to spinal instability is important in terms of the understanding of the pathophysiological mechanisms related with LFH.

scholarly journals Fatal evolution of systemic lupus erythematosus associated with Crohn's disease

2000 ◽  
Vol 37 (4) ◽  
pp. 224-226 ◽  
Author(s):  
Júlio M. Fonseca CHEBLI ◽  
Pedro Duarte GABURRI ◽  
Aécio Flávio Meirelles de SOUZA ◽  
Kátia Valéria Bastos DIAS ◽  
Karla Oliveira CIMINO ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Lupus Erythematosus ◽  
Histopathological Examination ◽  
Clinical Manifestations ◽  
Systemic Lupus ◽  
Brazilian Woman ◽  
Hands And Feet ◽  
Fatal Evolution

The authors describe the case of a young Brazilian woman who was treated of ileocolonic Crohn's disease sparing rectum, as confirmed by colonoscopy and histopathological examination. After a 4-year course of sulfasalazine treatment, she presented with skin facial lesions in vespertilio, fever, arthralgias and high titers of anti-ANA and LE cells. A sulfasalazine-induced lupus syndrome was diagnosed, because after sulfasalazine withdrawal and a short course of prednisone, the clinical symptoms disappeared and the laboratory tests returned to normal. Mesalazine 3 g/day was started and the patient remained well for the next 3 years, when she was again admitted with fever, weakness, arthralgias, diplopy, strabismus and hypoaesthesia in both hands and feet, microhematuria, haematic casts, hypocomplementemia and high titers of autoimmune antibodies. A diagnosis of associated systemic lupus erythematosus was made. Although a pulsotherapy with methylprednisolone was started, no improvement was noticed. A cyclophosphamide trial was tried and again no positive results occurred. The patient evolved to severe clinical manifestations of general vasculitis affecting the central and peripheral nervous system and lungs, having a fatal evolution after 2 weeks. Although uncommon, the association of both disease may occur, and the authors call attention to this possibility, making a brief review of literature.

scholarly journals Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1

2015 ◽  
Vol 7 (3) ◽  
pp. 247-252 ◽  
Author(s):  
Ning Wu ◽  
Sarita Said ◽  
Shyamsunder Sabat ◽  
Matthew Wicklund ◽  
Mark C. Stahl
Keyword(s):  
English Language ◽  
Case Reports ◽  
Sensory Neuropathy ◽  
Neurological Deficits ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Junction Protein ◽  
Gap Junction Protein ◽  
Magnetic Resonance Imaging Mri

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor sensory neuropathy, is a heterogeneous group of disorders best known for causing inherited forms of peripheral neuropathy. The X-linked form, CMTX1, is caused by mutations in the gap junction protein beta 1 (GJB1) gene, expressed both by peripheral Schwann cells and central oligodendrocytes. Central manifestations are known but are rare, and there are few case reports of leukoencephalopathy with transient or persistent neurological deficits in patients with this CMT subtype. Here, we report the case of a man with multiple male and female family members affected by neuropathy who carries a pathologic mutation in GJB1. He has experienced three transient episodes with variable neurological deficits over the course of 7 years with corresponding changes on magnetic resonance imaging (MRI). This case illustrates CMT1X as a rare cause of transient neurological deficit and demonstrates the evolution of associated reversible abnormalities on MRI over time. To the best of our knowledge, this report provides the longest period of serial imaging in a single patient with this condition in the English language literature.

scholarly journals Acute Mesenteric Vein Thrombosis in a Pregnant Patient at 10 Weeks Gestation: A Case Report

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1348
Author(s):  
Ying-Ying Chen ◽  
Sheng-Mao Wu ◽  
Russell Oliver Kosik ◽  
Yi-Chien Hsieh ◽  
Tzu-I Wu ◽  
...  
Keyword(s):  
Acute Abdominal Pain ◽  
Clinical Manifestations ◽  
Pregnant Patient ◽  
Resonance Imaging ◽  
Advanced Imaging ◽  
Mesenteric Vein Thrombosis ◽  
Mesenteric Vein ◽  
Vein Thrombosis ◽  
Management Perspective ◽  
Magnetic Resonance Imaging Mri

Acute abdominal pain during pregnancy is challenging, both from a diagnostic and management perspective. A non-localized, persistent pain out of proportion to physical examination is a sign that advanced imaging may be necessary. Mesenteric venous thrombosis in a pregnant patient is extremely rare, but if diagnosis is delayed, can be potentially fatal to both the mother and the fetus. We present here a pregnant patient in the tenth week of gestation with classic clinical manifestations of mesenteric vein thrombosis and the corresponding findings on magnetic resonance imaging (MRI) and computed tomography (CT).

scholarly journals Lesion with blue bone-a case report

2018 ◽  
Vol 8 (1) ◽  
pp. 1323-1325
Author(s):  
Laila Mohamed Ilias ◽  
Babitha Alingal Mohammed ◽  
Roshini PS ◽  
Anupama Ponniah ◽  
Poornima Vijayan
Keyword(s):  
Histopathological Examination ◽  
Fibrous Tissue ◽  
Bone Lesion ◽  
Metacarpal Bone ◽  
Cortical Surface ◽  
Bizarre Parosteal Osteochondromatous Proliferation ◽  
X Ray ◽  
Spindle Cells ◽  
Small Bones ◽  
Hands And Feet

Bizzare parosteal osteochondromatous proliferation, or Nora‘s lesion is a unique bone lesion that most often arises in the small bones of hands and feet.  It is characterised by proliferation of chondroid, bony and fibrous tissue, and is occasionally misdiagnosed as a malignant process.  Our case was a 31 yr old lady, who presented with a painless swelling near the 5th metacarpal bone of right hand.  X-ray showed well marginated mineralised mass arising from the cortical surface of the metacarpal bone.  Histopathological examination revealed bizarre parosteal osteochondromatous proliferation composed of varying amounts of cartilage, bone and spindle cells. Cartilage was hypercellular and chondrocytes were enlarged. Ossification was irregular and had a peculiar blue tinctorial quality. 

scholarly journals Pulvinar sign in a case of anti-HU paraneoplastic encephalitis

2016 ◽  
Vol 29 (6) ◽  
pp. 436-439 ◽  
Author(s):  
Pierre-Luc Gamache ◽  
Maude-Marie Gagnon ◽  
Martin Savard ◽  
François Émond
Keyword(s):  
Magnetic Resonance Imaging ◽  
Differential Diagnosis ◽  
Magnetic Resonance ◽  
Clinical Manifestations ◽  
Resonance Imaging ◽  
Paraneoplastic Encephalitis ◽  
Jakob Disease ◽  
Magnetic Resonance Imaging Mri ◽  
Work Up

This article reports the case of a 68-year-old patient with anti-HU antibodies paraneoplastic encephalitis. The clinical manifestations were atypical and the paraclinical work-up, notably the magnetic resonance imaging (MRI) showing bilateral posterior thalamic hyperintensities (pulvinar sign), misleadingly pointed towards a variant Creutzfeld–Jakob disease. After presenting the case, the differential diagnosis of the pulvinar sign is discussed along with other important diagnostic considerations.

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