Progressive Difficulty In Walking Research Articles

Fluorosis Masquerading as Compressive Myelopathy

A 60-year-old woman from Cuddalore presented with restricted neck movements, progressive difficulty in walking, and lower limb weakness, leading to bed confinement. Clinical examination revealed spastic paraparesis, brisk reflexes, and sensory deficits below the hips. Laboratory investigations indicated renal insufficiency and elevated urine fluoride levels. Imaging demonstrated calcifications of sacroiliac, sacrospinous ligaments, interosseous membrane, and posterior longitudinal ligament, with osteosclerosis and osteoporosis. Differential diagnoses included Ankylosing Spondylitis and Diffuse Idiopathic Skeletal Hyperostosis. However, the unique pattern of ligament calcification and elevated fluoride levels supported a diagnosis of fluorosis. This case underscores the importance of considering fluorosis in patients from endemic areas with spastic paraparesis and characteristic radiological findings. Posterior decompression via laminectomy was performed, emphasizing the need for awareness of fluorosis as a potential cause of cervical compressive myelopathy.

Generation of hereditary spastic paraplegia patient-derived induced pluripotent stem cell line UJSi003-A

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. Patients with HSP experience spastic paralysis in both lower limbs, leading to progressive walking difficulties, increased reflexes, spasms, and extensor plantar responses. We successfully generated induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) obtained from a patient diagnosed with HSP. The iPSCs exhibited a normal karyotype, expressed pluripotency markers, and differentiated into the three germ layers in vitro.

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.

GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progressive walking difficulty. Neurological examination found predominant distal muscle weakness and atrophy, decreased tendon reflexes, predominating in lower limbs. Electroneuromyography showed an axonal neuropathy pattern. However, whole exome sequencing (WES) revealed a novel biallelic variant in GNE c.1838G > A:p.Gly613Glu, segregating with the phenotype within the family. This study highlights its diagnosis challenges in sub-Saharan Africa and broadens the genetic spectrum of this rare disease.

Extramedullary Paravertebral Mass: An Unusual Presentation of Hairy Cell Leukaemia.

Hairy cell leukaemia (HCL) is an uncommon, indolent, B-cell, lymphoproliferative disorder typically involving peripheral blood, spleen and bone marrow. It is commonly presenting with pancytopenia, monocytopenia and massive splenomegaly, while accounting for 2% of lymphoid leukaemias. Cases of extranodal lesions caused by HCL are rare, although these have been reported. Here, we report a case of HCL presenting as a paravertebral mass without systemic involvement. A 58-year-old man was admitted to our hospital due to progressive difficulty walking for a month, without any other symptoms. Blood examination noted mild anaemia with Hb=12.6 g/dl and mild thrombocytopenia of 140,000/μl. Magnetic resonance imaging (MRI) and computed tomography (CT) imaging demonstrated a T6 posterior paravertebral mass lesion, extending into the spinal canal with metastatic bone lesions along the thoracic and lumbar spine. Further imaging study with CT indicated mild splenomegaly (13.4 cm) and an enlarged abdominal lymph node (3.5 cm) near celiac trifurcation. A core-needle biopsy from the paravertebral mass was performed. Results showed small-sized cells with round or oval nuclei, and pale cytoplasm with immunophenotype: B-cell origination with CD20+, Cyclin D1+, DBA.44+, Annexin+ and BRAF+, indicative of HCL. Hairy cell leukaemia (HCL) is relatively uncommon, accounting for 2% of all leukaemia cases.Extramedullary and skeletal involvement in HCL is rare and shares morphological characteristics with other peripheral small B-cell lymphoma neoplasms.Spine biopsy is essential for diagnosis in these cases, since it is always helpful to narrow the differential diagnosis.Correct diagnosis is essential for treatment of HCL and leads most patients to clinical remission and sometimes long-term cures.

Laughing gas abuse causing subacute combined spinal cord degeneration with psychiatric manifestations

Background. Nitrous oxide, a nonirritating gas commonly used as an anesthetic, is increasingly abused by the young population for its euphoric effects due to its seemingly harmless nature. However, its neurological impacts can vary in intensity and sometimes result in permanent damage. Accurate diagnosis and treatment hinge on identifying nitrous oxide use through anamnesis, clinical and paraclinical findings, as demonstrated in the following case report. Case report. A 27-year-old female with psychiatric history presented with progressive paresthesia and walking difficulty, admitting to recent nitrous oxide use, alongside other substances. Clinical examination revealed mild tetraparesis, coordination disturbances, generalized hyporeflexia, and sensory deficits. Electromyography showed severe sensory neuropathy, and spinal MRI indicated subacute combined degeneration (SCD) of the spinal cord. Laboratory tests revealed hyperhomocysteinemia and elevated methylmalonic acid levels, despite normal vitamin B12 levels. Treatment included intramuscular vitamin B12, folic acid, and neurotrophic agents, along with physical rehabilitation. Psychiatric symptoms, possibly exacerbated by nitrous oxide, and complicated adherence to therapy. Conclusions. This case underscores the neurotoxic potential of nitrous oxide, particularly its disruption of cobalamin metabolism, and highlights the need for thorough patient histories to uncover substance use contributing to neurological symptoms. Despite treatment, some neurological deficits may persist, emphasizing the importance of early intervention and comprehensive care strategies.

Non-dysraphic intramedullary spinal cord lipoma: A case report

Introduction: Intramedullary nondysraphic spinal lipomas are extremely rare among primary spinal cord tumors. These patients present with nonspecific sensory symptoms followed by deterioration of motor symptoms. As the safety margins for neurological preservation are thin, meticulously locating the extent of the tumor and choosing the resection modalities is essential. Case Report: We report a rare case of a 35-year-old male who presented with progressive difficulty in walking for six months associated with numbness and tingling sensation in the bilateral upper and lower limbs. He was diagnosed with nondysraphic intramedullary cervicothoracic lipoma and underwent subtotal resection of the tumor. Conclusion: Nondysraphic intramedullary spinal cord lipomas are rare and may present as nonspecific neurological symptoms. Hence, they should be considered differentials of intramedullary spinal cord tumors. Surgery appears to be the mainstay of treatment.

Child Neurology: Allgrove Syndrome: An Intriguing Etiology of Motor Neuron Disease in Children

Motor neuron diseases are a rare group of neurodegenerative disorders with considerable phenotypic heterogeneity and a multitude of etiologies in the pediatric population. In this study, we report 2 unrelated adolescents (a boy and a girl) who presented with 4-6 years of progressive difficulty in walking, thinning of limbs, and gradually progressive darkening of the skin. Examination revealed generalized hyperpigmentation of skin and features suggestive of motor neuron involvement such as tongue atrophy, wasting of distal extremities, and brisk deep tendon reflexes. On detailed exploration for systemic involvement, history of dysphagia, inability to produce tears, and Addisonian crises were evident. An etiologic diagnosis of Allgrove syndrome, which is characterized by a triad of achalasia, alacrimia, and adrenal insufficiency was considered. Next-generation sequencing revealed pathogenic variants in the AAAS gene, confirming the diagnosis. Steroid replacement therapy was initiated along with relevant multidisciplinary referrals. The disease stabilized in the boy and a significant improvement was noted in the girl. These cases highlight the value of non-neurologic cues in navigating the etiologic complexities of motor neuron diseases in children and adolescents. It is imperative for neurologists to develop awareness of the diverse neurologic manifestations associated with Allgrove syndrome because they are often the first to be approached. A multidisciplinary team of experts including neurologists, endocrinologists, gastroenterologists, ophthalmologists, and dermatologists is essential for planning comprehensive care for these patients.

Charcot-Marie-Tooth disease: A Case Report

Charcot-Marie-Tooth (CMT) disease is one of the most common genetically inherited neuromuscular disorder causing peripheral neuropathies. More than 60 different gene mutations are causing this disease and affecting approximately 1 in every 2500 people. We report a case of previously healthy 14-year-old male presented to the OPD with progressive walking difficulty since 4 years of age. Electromyography showed senori-motor axonal peripheral neuropathy compatible with CMT type 2. Patients with Charcot Marie Tooth should invariably be part of an ongoing multidisciplinary plan of care in regards to their functional impairments.

Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62

We report a 67-year-old woman with a 5-year history of progressive walking and balance difficulties with near-fall episodes. Gradually she also developed fine motor and speech problems that progressively impacted her communication. Swallowing function was unremarkable, and there was no history of choking episodes in the past. She had an uneventful neonatal period, with normal psychomotor development and unremarkable family history. Past medical history was positive for status post-cholecystectomy, hypertriglyceridemia, gastric bypass surgery (obesity) and mild obstructive sleep apnea. There was no history of hypertension, hypercholesterolemia or diabetes. Patient quitted smoking >5 years ago (23 packs/y).

Early imaging to detect bone metastatic disease of a 54-year-old woman with history of breast cancer: a case report

The World Health Organization (WHO) has predicted a global amount of 19 million cancer case in 2025. After the lungs and liver, bone is the third most common site of tumour spread. The bone is a dynamic tissue that plays a critical role not only in structural support and movement, a reservoir for minerals and energy, but also houses of the bone marrow, which is the main site of postnatal hematopoiesis. A 54-year-old Indonesian woman presented to orthopaedist with complaints of sudden left hip pain and progressive difficulty in walking for three weeks. She reported severe pain that is exacerbated by any physical activity and movement. She has a medical history of breast cancer (pathologically confirmed in Sanglah General Hospital) which had undergone radiotherapy and chemotherapy a year ago. Outpatient left hip X-rays revealed lytic lesions at left acetabulum to left ilium, suggestive of metastatic disease. The established imaging techniques projectional radiography, skeletal scintigraphy, computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET) have undergone further development, with a resulting improvement in their diagnostic yield.

Pitfalls in the Diagnosis of Primary Hyperparathyroidism in a Sudanese Adolescent Boy; a case disguised as rickets

BackgroundJuvenile primary hyperparathyroidism (PHPT) is a rare endocrine disease. Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets.Case presentationA 12-year-old Sudanese boy presented with progressive lower limbs deformity and difficulty in walking for six months. It was associated with fatigability, poor appetite, and generalized bone pain. On examination, he was thin, disproportionately short and pubertal, and had bilateral genu valgum deformity. X-rays showed osteopenia and signs of rickets. Biochemical workup revealed mildly elevated serum calcium, low phosphate, high alkaline phosphatase, and high parathyroid hormone with low 25-hydroxy vitamin D3. Celiac screening, liver function test and renal profile were normal. Serum calcium rose dramatically after vitamin D therapy. Genetic testing was negative for CYP2R1 and MEN1 genes. Ultrasound neck showed left inferior parathyroid adenoma which was surgically excised. Histopathology confirmed the diagnosis of parathyroid adenoma. Postoperatively, he had hypocalcemia which was treated with calcium and alfacalcidol. Corrective surgery is planned for the genu valgum deformity which markedly improved after parathyroidectomy.ConclusionAlthough PHPT is extremely rare in the young population, it should be considered in patients with rickets and elevated serum calcium at baseline or after initiating vitamin D therapy.

COVID-19-associated Guillain–Barrè Syndrome and Urinary Dysfunction: A case report

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) viral infection can cause multiple systemic and neurological complications, including Guillain- Barrè Syndrome (GBS). In this report we describe for the first time, urinary dysfunction in a patient with COVID- 19. We reported a 41-years- old female patient with complaints of an increased generalized muscular weakness associated with progressive difficulty in walking. Four days earlier, patient complained of fever, diarrhea, and general weakness, and the RT-PCR was positive for COVID-19 infection. Due to the worsening of neurological symptoms, a neurophysiological examination on nervous conduction was performed and the diagnosis was suggestive of GBS. Two weeks later, patient developed two consecutive episodes of acute urinary retention that requested the placement of indwelling transurethral catheter. Patient started assuming selective alpha-1 adrenergic antagonist in association with 4 clean intermittent catheterization/ die. Four months later, women continued the therapy and the ultrasound evaluation revealed non- pathologic post- void residual volume. Therefore, patient started to void spontaneously again and alpha- blockers were discontinued. We report for the first time a case of severe voiding disorder in a patient with COVID-19 associated GBS. Timely bladder drainage should be adopted to avoid irreversible detrusor damage.

A Family Cluster of Inherited Ataxia: Case Report and Clinical Review

The hereditary ataxias are a highly heterogeneous group of disorders phenotypically characterised by gait ataxia, incoordination of eye movements, speech, and hand movements, and usually associated with atrophy of the cerebellum. Friedreich's ataxia is a genetic, progressive, neurodegenerative movement disorder with a typical age of onset of between 10 and 15 years. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulty in walking due to an impaired ability to coordinate voluntary movements (ataxia). A family of six members was diagnosed clinically, electro-physiologically, and radiologically with having this type of inherited ataxia from Basrah, southern Iraq. This article aims to describe the clinical presentation and diagnostic approach of cerebellar ataxia, with a focus on inherited forms of ataxia.

A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review

Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative disorders, which is characterized by the presence of progressive spasticity and weakness in bilateral lower limbs. Spastic paraplegia 62 (SPG62) caused by the endoplasmic reticulum lipid raft associated 1 (ERLIN1) gene mutation is a rare subtype of HSP. Herein, we report the case of the first Chinese SPG62 patient, explore the potential pathogenic mechanism and review ERLIN1-related HSP patients. A 23-year-old man had progressive difficulty in walking and gait abnormalities for more than 11 years. Physical examination showed slightly reduced muscle strength (5-/5) and elevated muscle tone in the lower limbs and hyperreflexia in four limbs. Genetic analysis identified a novel splicing site mutation in ERLIN1 gene (c.504+1G > A), which was predicted to disturb the normal splicing process of mRNA by bioinformatic tools. Minigene experiment further confirmed the mutation c.504+1G > A could cause erroneous deletion of Exon 7 in the mRNA, which may change the conserved prohibitin (PHB) domain of erlin-1 and affect the function of erlin1/2 complex. Thus, we identified a pathogenic mutation of ERLIN1 splicing site causing delayed-onset pure HSP. This study widened the genetic and phenotypic spectrum of SPG62.

Teaching Video NeuroImage: Scurvy Presenting as Proximal Myopathy in a Young Boy.

Five-year-old boy presented with progressive difficulty in running, climbing stairs, and walking for 3 months. Examination showed irritability, wide-based gait, imbalance, proximal lower limb muscle weakness, Gower sign (Video 1, [links.lww.com/WNL/C321][1]), normal tendon reflexes, and no sensory loss. On questioning, parents revealed that the child had been eating only wheat bread and milk for the past year. X-ray of knees was obtained and showed classic signs of vitamin C deficiency1: lines of Fränkel, Trümmerfeld zone, and Pelkan spurs (Figure). Ascorbic acid was started at 250 mg/d. Complete resolution of symptoms was noted within 2 months (Video 1, [links.lww.com/WNL/C321][1]). Neurologic and musculoskeletal presentations of scurvy include myalgia, arthralgia, neuralgia, limb weakness (pseudoparalysis), hemarthrosis, hematomas, and neuropsychiatric symptoms.2 Scurvy, although rare, should be considered in children with neuromuscular symptoms even in the absence of mucocutaneous manifestations, especially in children with restrictive diets and comparatively rapid progression of symptoms. [1]: http://links.lww.com/WNL/C321

Woman With Leg Pain

A 50-year–old woman presented to the emergency department with severe calf pain after being pecked in the leg by a rooster 5 days earlier. She reported 2 puncture wounds from the attack, subjective fever, and progressive difficulty in walking because of the pain. She denied experiencing shortness of breath or chest pain. She arrived with a blood pressure of 131/85 mm Hg, a pulse rate of 74 beats/min, and a temperature of 37.2 °C (98.96 °F). Neurologic examination findings were normal, and she had normal posterial tibial and dorsalis pedis pulses and no warmth or redness to palpation, but she did have swelling and severe tenderness of the calf.

Case report of possible misdiagnosis of late onset multiple sclerosis with resurfacing of symptoms in her early eighties

Background: Late onset multiple sclerosis is relatively unusual and there are limited reports regarding the symptoms, progression and treatment. Case presentation: In this case study, we discuss a patient in her early eighties, with late onset multiple sclerosis presumably misdiagnosed of a transient ischemic attack presenting with numbness of her right hand and face that lasted for three months before they spontaneously regressed remaining dormant for almost 30 years. In 2018, a gradual, but progressive difficulty in walking surfaced. An MRI of the spinal cord was performed in 2019 and described without any pathological findings. On admission in our department, radiological examination revealed multiple lesions in the brain and the spinal cord suggesting a demyelinating condition and corresponded with the MRI of the spinal cord performed in 2019. The cerebrospinal fluid analysis revealed oligoclonal bands suggestive of multiple sclerosis. The patient received a three-day course of high dose prednisolone intravenously. On hospital discharge, the patient reported subjective improvement of the symptoms. Improvement of the symptoms was described by the patient at the 1-month follow-up, though no objective improvement was found on neurological examination. Taking into consideration the age and symptom progression no disease modifying treatment was initiated.

New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.

ObjectiveSpastic paraplegia‐12 (SPG12) is a subtype of hereditary spastic paraplegia caused by Reticulon‐2 (RTN2) mutations. We described the clinical and genetic features of three SPG12 patients, functionally explored the potential pathogenic mechanism of RTN2 mutations, and reviewed RTN2‐related cases worldwide.MethodsThe three patients were 31, 36, and 50 years old, respectively, with chronic progressive lower limb spasticity and walking difficulty. Physical examination showed elevated muscle tone, hyperreflexia and Babinski signs in the lower limbs. Patients 1 and 3 additionally had visual, urinary, and/or coordination dysfunctions. Patient 2 also had epileptic seizures. RTN2 mutations were identified by whole‐exome sequencing, followed by Sanger sequencing, segregation analysis, and phenotypic reevaluation. Functional examination of identified mutations was further explored.ResultsThree variants in RTN2 were identified in Patient 1 (c.103C>T, p.R35X), Patient 2 (c.230G>A, p.G77D), and Patient 3 (c.337C>A, p.P113T) with SPG, respectively. Western blotting revealed the p.R35X with smaller molecular weight than WT and other two missense mutants. Immunostaining showed the wild type colocalized with endoplasmic reticulum (ER) in vitro. p.R35X mutant diffusely distributes in the cytoplasm, losing colocalization with ER. p.G77D and p.P113T co‐localized with ER, which was abnormally aggregated in clumps.InterpretationIn this study, we identified three cases with complicated SPG12 due to three novel RTN2 mutations, respectively, presenting various phenotypes: classic SPG symptoms with (1) visual abnormalities and sphincter disturbances or (2) seizures. The phenotypic heterogeneity might arise from the abnormal subcellular localization of mutant Reticulon‐2 and improper ER morphogenesis, revealing the RTN2‐related spectrum is still expanding.

Malignant Nerve Sheath Tumor of the Hypoglossal Nerve in a Maltese Dog.

A 4 yr old male Maltese dog presented with a 1 wk history of intermittent neck pain and progressive difficulty walking. Neurologic evaluation was consistent with a left-sided brainstem lesion. On oral examination, left lingual hemiatrophy was evident suggesting hypoglossal nerve involvement. A dumbbell-shaped extra-axial mass in the left side of the caudal fossa extending extracranially through the hypoglossal canal was detected by MRI. At postmortem histologic examination, the hypoglossal nerve was diffusely infiltrated by fusiform neoplastic cells arranged in Antoni A and Antoni B patterns. This is the first description of a malignant nerve sheath tumor selectively involving the hypoglossal nerve in a dog.

DISCECTOMÍA TRANSTORÁCICA EXTRAPLEURAL SIN FUSIÓN PARA RESECCIÓN DE HERNIA DISCAL DORSAL CALCIFICADA GIGANTE: REPORTE DE CASO

Introduction: Calcified thoracic disc herniations are rare and their approach represents a surgical challenge when they are giant and symptomatic Surgery is indicated in cases of intractable back pain with medical management persistent intercostal neuralgia or progressive neurological deficit with the transthoracic extrapleural approach being the one of choice because it has advantages regarding the best view of the operative field We present the case of a patient with a giant calcified thoracic hernia who was successfully operated on in our hospital using an extrapleural transthoracic approach. Clinical case: A 53-year-old male with dorsal pain in the medial region radiating to the inframammary region and progressive difficulty walking moderate proximal paraparesis T8 sensory level and urinary retention CT and MRI images showed a large calcified T6-7 disc herniation causing severe compression of the spinal cord The patient underwent a T6-7 extrapleural transthoracic discectomy plus a T6 partial corpectomy without fusion The patient tolerated the procedure well with no complications and the postoperative images one month after surgery demonstrated spinal cord decompression At follow-up irradiated back pain sensory level paraparesis and urinary retention improved. Conclusion: Extrapleural transthoracic discectomy can be considered a safe approach in the case of giant calcified thoracic hernias since it allows resection of the calcified disc fragment and decompression of the spinal cord. Keywords: Intervertebral Disc Displacement, Diskectomy, Spinal Cord, Decompression (Source: MeSH NLM)