Conjoined lumbosacral nerve root: a case report.

BACKGROUND: In patients with conjoined nerve roots, hemilaminectomy with sufficient exposure of the intervertebral foramen or lateral recess is required to prevent destabilization and ensure correct mobility of the lumbosacral spine. To the best of our knowledge, no case reports have detailed the long-term course of conjoined nerve roots after surgery. CASE PRESENTATION: We report the case of a 51-year-old Japanese man with a conjoined nerve root. The main symptoms were acute low back pain, radiating pain, and right leg muscle weakness. Partial laminectomy was performed with adequate exposure to the conjoined nerve root. The symptoms completely resolved immediately after surgery. However, the same symptoms recurred 7 years postoperatively. The nerve root was compressed because of foraminal stenosis resulting from L5-S disc degeneration. L5-S transforaminal lumbar interbody fusion was performed on the contralateral side because of an immobile conjoined nerve root. At 44 months after the second surgery, the patient had no low back pain or radiating pain, and the muscle weakness in the right leg had improved. CONCLUSIONS: This is the first report of the long-term course of conjoined nerve root after partial laminectomy. When foraminal stenosis occurs after partial laminectomy, transforaminal lumbar interbody fusion from the contralateral side may be required because of an immobile conjoined nerve root.

Phenotypic spectrum of inclusion body myositis.

Inclusion body myositis (IBM) is a progressive, debilitating muscle disease commonly encountered in patients over the age of 50. IBM typically presents with asymmetric, painless, progressive weakness and atrophy of deep finger flexors and/or quadriceps muscle. Many patients with IBM develop dysphagia. However, atypical presentations of IBM with isolated dysphagia, asymptomatic hyper-CKemia, foot drop, proximal weakness, axial weakness, and facial diplegia have been reported. Other acquired and some inherited disorders may present similar to IBM, and this list gets more expansive when considering atypical presentations. In general, disease progression of IBM leads to loss of hand function and impaired ambulation, and most IBM patients become wheelchair dependent within 13-15 years of disease onset. Hence, IBM impacts negatively patients' quality of life and reduces longevity compared to the general population. Acknowledging the complete clinical spectrum of IBM presentation and excluding mimics would shorten the time to diagnosis, lead to prompt initiation of supportive management and avoid unproven therapy. Ongoing advanced phase studies in IBM provide hope that a therapy may soon be available. Therefore, an added potential benefit of early diagnosis would be prompt initiation of disease-modifying therapy once available.

Practical approach to the child presenting with acute generalised weakness.

Acute generalised muscle weakness in children is a paediatric emergency with a broad differential diagnosis. A careful history and neurologic examination guides timely investigation and management. We review some of the more common causes of acute generalised muscle weakness in children, highlighting key history and examination findings, along with an approach to lesion localisation to guide differential diagnosis and further investigation.

Critical illness-associated limb and diaphragmatic weakness.

PURPOSE OF REVIEW: In the current review, we aim to highlight the evolving evidence on the diagnosis, prevention and treatment of critical illness weakness (CIW) and critical illness associated diaphragmatic weakness (CIDW). RECENT FINDINGS: In the ICU, several risk factors can lead to CIW and CIDW. Recent evidence suggests that they have different pathophysiological mechanisms and impact on outcomes, although they share common risk factors and may overlap in several patients. Their diagnosis is challenging, because CIW diagnosis is primarily clinical and, therefore, difficult to obtain in the ICU population, and CIDW diagnosis is complex and not easily performed at the bedside. All of these issues lead to underdiagnosis of CIW and CIDW, which significantly increases the risk of complications and the impact on both short and long term outcomes. Moreover, recent studies have explored promising diagnostic techniques that are may be easily implemented in daily clinical practice. In addition, this review summarizes the latest research aimed at improving how to prevent and treat CIW and CIDW. SUMMARY: This review aims to clarify some uncertain aspects and provide helpful information on developing monitoring techniques and therapeutic interventions for managing CIW and CIDW.

Improving management of ARDS: uniting acute management and long-term recovery.

Acute Respiratory Distress Syndrome (ARDS) is an important global health issue with high in-hospital mortality. Importantly, the impact of ARDS extends beyond the acute phase, with increased mortality and disability for months to years after hospitalization. These findings underscore the importance of extended follow-up to assess and address the Post-Intensive Care Syndrome (PICS), characterized by persistent impairments in physical, cognitive, and/or mental health status that impair quality of life over the long-term. Persistent muscle weakness is a common physical problem for ARDS survivors, affecting mobility and activities of daily living. Critical illness and related interventions, including prolonged bed rest and overuse of sedatives and neuromuscular blocking agents during mechanical ventilation, are important risk factors for ICU-acquired weakness. Deep sedation also increases the risk of delirium in the ICU, and long-term cognitive impairment. Corticosteroids also may be used during management of ARDS, particularly in the setting of COVID-19. Corticosteroids can be associated with myopathy and muscle weakness, as well as prolonged delirium that increases the risk of long-term cognitive impairment. The optimal duration and dosage of corticosteroids remain uncertain, and there's limited long-term data on their effects on muscle weakness and cognition in ARDS survivors. In addition to physical and cognitive issues, mental health challenges, such as depression, anxiety, and post-traumatic stress disorder, are common in ARDS survivors. Strategies to address these complications emphasize the need for consistent implementation of the evidence-based ABCDEF bundle, which includes daily management of analgesia in concert with early cessation of sedatives, avoidance of benzodiazepines, daily delirium monitoring and management, early mobilization, and incorporation of family at the bedside. In conclusion, ARDS is a complex global health challenge with consequences extending beyond the acute phase. Understanding the links between critical care management and long-term consequences is vital for developing effective therapeutic strategies and improving the quality of life for ARDS survivors.

The effect of experimentally induced gluteal muscle weakness on joint kinematics, reaction forces, and dynamic balance performance during deep bilateral squats.

Squatting is a common daily activity and fundamental exercise in resistance training and closed kinetic chain programs. The aim of this study was to investigate the effects of an experimentally induced weakness of the gluteal muscles on joint kinematics, reactions forces (JRFs), and dynamic balance performance during deep bilateral squats in healthy young adults. Ten healthy adults received sequential blocks of (1) branch of the superior gluteal nerve to the tensor fasciae latae (SGNtfl) muscle, (2) superior gluteal nerve (SGN), and (3) inferior gluteal nerve (IGN) on the dominant right leg. At the control condition and following each block, the participants were instructed to perform deep bilateral squats standing on two force plates. Hip, knee, ankle, and pelvis kinematics did not differ significantly following iatrogenic weakness of gluteal muscles. The most important finding was the significant differences in JRFs following SGN and IGN block, with the affected hip, patellofemoral, and ankle joint demonstrating lower JRFs, whereas the contralateral joints demonstrated significantly higher JRFs, especially the patellofemoral joint which demonstrated an average maximum difference of 1.43 x body weight compared with the control condition. When performing a deep bilateral leg squat under SGN and IGN block, the subjects demonstrated an increased center of pressure (CoP) range and standard deviation (SD) in mediolateral compared with the control condition. These results imply that squat performance changes significantly following weakness of gluteal muscles and should be considered when assessing and training athletes or patients with these injuries.

Effect of Unintended Tissue Injury on the Development of Thigh Symptoms After Lateral Lumbar Interbody Fusion in Patients With Adult Spinal Deformity: A Retrospective Case Series.

STUDY DESIGN: A retrospective case series. OBJECTIVE: This study aimed to investigate the effects of lateral lumbar interbody fusion (LLIF)-induced unintended tissue damage, including cage subsidence, cage malposition, and hematoma in the psoas major muscle, on the development of thigh symptoms. SUMMARY OF BACKGROUND DATA: Thigh symptoms are the most frequent complications after LLIF and are assumed to be caused by lumbar plexus compression and/or direct injury to the psoas major muscle. However, the causes and risk factors of thigh symptoms are yet to be fully understood. MATERIALS AND METHODS: Adult patients with spinal deformity who underwent two-stage surgery using LLIF and a posterior open fusion for the first and second stages, respectively, were included. Computed tomography and magnetic resonance imaging were routinely performed after LLIF before posterior surgery to investigate cage subsidence, cage malposition, and hematoma in the psoas muscle. We evaluated the development of thigh symptoms after LLIF and examined the effects of tissue injury on the occurrence of thigh symptoms. The differences in demographics and surgical and tissue damage parameters were compared between the groups with and without thigh symptoms using unpaired t tests and chi-squared tests. Factors associated with the development of thigh symptoms and muscle weakness were also assessed using logistic regression analysis. RESULTS: Overall, 130 patients [17 men and 113 women; mean age, 68.7 (range, 47-84)] were included. Thigh symptoms were observed in 52 (40.0%) patients, including muscle weakness and contralateral side symptoms in 20 (15.4%) and 9 (17.3%) patients, respectively. The factors significantly associated with thigh symptoms identified after multiple logistic regression analysis included hematoma (odds ratio: 2.27, 95% CI, 1.03-5.01) and approach from the right side (odds ratio: 2.64, 95% CI, 1.21-5.75). The presence of cage malposition was the only significant factor associated with muscle weakness (odds ratio: 4.12, 95% CI, 1.37-12.4). CONCLUSIONS: We found unintended tissue injury during LLIF was associated with thigh symptoms. We found that hematoma in the psoas major muscle and cage malposition were the factors associated with thigh symptoms and muscle weakness, respectively.

Thiamine deficiency-related neuropathy: A reversible entity from an endemic area.

BACKGROUND AND PURPOSE: Despite thiamine deficiency being a lesser-known entity in modern times, beriberi in various forms, including thiamine deficiency-related neuropathy, remains endemic in Kashmir due to the consumption of polished rice as a staple food. This observational study investigates cases of peripheral neuropathy of unknown etiology and their potential responsiveness to thiamine administration. METHODS: This prospective study enrolled adult patients presenting to the emergency department with weakness consistent with thiamine deficiency-related neuropathy and conducted a therapeutic challenge with thiamine on 41 patients. Response to thiamine therapy was monitored based on subjective and objective improvements in weakness and power. Patients were divided into thiamine responders (n = 25) and nonresponders (n = 16) based on their response to thiamine therapy and nerve conduction studies. RESULTS: Most of the baseline characteristics were similar between responders and nonresponders, except the responders exhibited lower thiamine levels and higher partial pressure of oxygen and lactate levels compared to nonresponders. All patients had a history of consuming polished rice and traditional salt tea. Although weakness in the lower limbs was present in both groups, nonresponders were more likely to exhibit weakness in all four limbs. Clinical improvement was observed within 24 h, but proximal muscle weakness persisted for an extended period of time. CONCLUSIONS: Thiamine deficiency-related neuropathy presents with predominant lower limb weakness, exacerbated by vomiting, poor food intake, psychiatric illness, and pregnancy. Thiamine challenge should be followed by observation of clinical and biochemical response.

A case report on multiple acyl-CoA dehydrogenase deficiency with severe myopathy and osteoporosis.

A 35-year-old male patient presented fluctuating bilateral lower extremity weakness for 3 years. Physical examination showed grade 4 proximal muscle weakness in both lower extremities and grade 5 distal muscle weakness. Laboratory data revealed elevated creatine kinase, triglycerides, and cholesterol. Muscle pathology showed deposition of lipid droplet under the sarcolemma. Bone densitometry indicated severe osteoporosis. Next-generation sequencing revealed a pathogenic mutation in the ETFDH gene. The patient was diagnosed with late-onset multiple acyl-CoA dehydrogenase deficiency. After riboflavin treatment, symptoms of the patient were relieved, physical endurance was restored, and bone mineral density was improved.

Pseudoparesis and pseudoparalysis in the setting of massive irreparable rotator cuff tear: demographic, anatomic, and radiographic risk factors.

BACKGROUND: The primary purpose of this study was to identify demographic, anatomic, and radiographic risk factors for active forward elevation (AFE) <90° in the setting of massive, irreparable rotator cuff tear (miRCT). The secondary purpose was to identify characteristics differentiating between patients with pseudoparalysis (AFE <45°) and pseudoparesis (AFE >45° but <90°). METHODS: This was a retrospective case-control study reviewing patients with miRCTs at a single institution between January 12, 2016 and November 26, 2020. Patients were separated into 2 cohorts based on presence or absence of preoperative AFE <90° with maintained passive range of motion. Demographics, RCT pattern, and radiographic parameters were assessed as risk factors for AFE <90°. A secondary analysis was conducted to compare patients with pseudoparalysis and pseudoparesis. RESULTS: There were 79 patients in the AFE <90° cohort and 50 patients in the control cohort. Univariate analysis confirmed significant differences between the AFE <90° and control cohort in age (71.9 ± 11.0 vs. 65.9 ± 9.1 years), arthritis severity (34.2% vs. 16.0% grade 3 Samilson-Prieto), acromiohumeral distance (AHD; 4.8 ± 2.7 vs. 7.6 ± 2.6 mm), fatty infiltration of the supraspinatus (3.3 ± 0.9 vs. 2.8 ± 0.8) and subscapularis (2.0 ± 1.2 vs. 1.5 ± 1.0), and proportion of subscapularis tears (55.7% vs. 34.0%). On multivariate analysis, age (odds ratio [OR] 1.08, P = .014), decreased AHD (OR 0.67, P < .001), severe arthritis (OR 2.84, P = .041), and subscapularis tear (OR 6.29, P = .015) were independent factors predictive of AFE <90°. Secondary analysis revealed tobacco use (OR 3.54, P = .026) and grade 4 fatty infiltration of the supraspinatus (OR 2.22, P = .015) and subscapularis (OR 3.12, P = .042) as significant predictors for pseudoparalysis compared to pseudoparesis. CONCLUSIONS: In patients with miRCT, increased age, decreased AHD, severe arthritis, and subscapularis tear are associated with AFE <90°. Furthermore, patients with AFE <90° tend to have greater supraspinatus and subscapularis fatty infiltration. Lastly, among patients with AFE <90°, tobacco use and grade 4 fatty infiltration of the supraspinatus and subscapularis are associated with pseudoparalysis compared with pseudoparesis.

A case report of central core disease with repeated foaming at the mouth as the initial symptom.

BACKGROUND: Central core disease (CCD) is a congenital myopathy primarily observed in infants and children. It frequently manifests as limb weakness or delayed motor development, characterized by gradually progressing or non-worsening weakness and muscle atrophy primarily affecting the proximal limbs. Joint deformity is a prevalent clinical feature. Presently, there is no targeted treatment available for this condition. CASE DESCRIPTION: The infant, who was 42 days old, showed a repeated occurrence of foaming at the mouth for more than a month as the initial symptom. Initially, the local clinic misdiagnosed it as softening of the thyroid cartilage. However, when the infant underwent bronchoscopy at our hospital, it was discovered that the pharyngeal muscle was loose, and there was noticeable retraction of the base of the tongue. Additionally, the infant displayed evident hypotonia and an increase in creatine kinase levels. By conducting a thorough genetic examination, we confirmed that the infant had CCD. CONCLUSION: The onset of CCD may manifest as various symptoms. Medical practitioners need to be attentive in recognizing individuals who experience recurring pneumonia along with reduced muscle tone during the course of clinical diagnosis and treatment.

Exercise induced muscle weakness in a young adult: McArdle's disease unusual presentation.

McArdle's disease (Glycogen storage disease type V) is a rare inherited autosomal recessive disease involving defect in enzyme, glycogen phosphorylase (PYGM) which results in accumulation of glycogen mainly affecting skeletal muscles. It commonly presents in childhood and rarely in adults with symptoms like exercise intolerance, muscle weakness, cramps and fatigue. Herein, we report an unusual case of a 22 years old male in Pakistan with probable McArdle's Disease presenting with repeated episodes of generalized cramping muscle pain, exercise intolerance and haematuria. The diagnostic approach to identifying this disease as well as the differentials of other rare types of skeletal muscle disorders that should be kept in mind while dealing with a similar clinical picture, irrespective of the age of presentation, have been discussed.

Evolution of Seronegative Inflammatory Myositis to Dermatomyositis With Characteristic Cutaneous Features: A Case Report.

Dermatomyositis (DM) is a rare inflammatory myopathy with an incidence of 9.63 per 1 000 000 people and typically presents with skin rash and muscle weakness. We report a case of DM that presented with proximal muscle weakness, normal creatine phosphokinase (CPK), negative myositis antibody panel, and non-specific histopathological findings on muscle biopsy, without initial skin involvement. A 67-year-old male presented with subacute bilateral proximal lower-extremity weakness and weight loss of 20 pounds over 3 months. Laboratory investigation was significant for elevated erythrocyte sedimentation rate, C-reactive protein, CPK, and aldolase, with negative myositis-specific antibodies. Femur magnetic resonance imaging revealed subcutaneous, fascial, and muscle edema throughout quadriceps and gluteal muscles. Muscle biopsy showed myofiber atrophy with perivascular and endomysial T-lymphocytes and histiocytes, as well as scattered necrotic myofibers. He was diagnosed with inflammatory myositis and started on prednisone and monthly IVIG infusions. At 2-month follow-up, he reported new rashes on the extensor surfaces of the hands consistent with Gottron's papules, mechanic's hands, and livedo reticularis of feet and arms. Cases of DM that present with myopathy and later develop skin changes are rare. Our patient had several months of progressive proximal muscle weakness, and skin changes occurred after he was started on treatment. Laboratory findings include elevated CPK, aldolase, and myositis-specific auto-antibodies. Muscle biopsy helps in diagnosis; however, findings may be nonspecific-as was the case in our patient. Corticosteroids are first-line treatment. Long-term follow-up studies are necessary to better understand the incidence of late-onset development of typical skin findings.