• Journal of The Korean Society of Integrative Medicine
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• v.9 no.2
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• pp.105-108
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• 2021

Background : Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare, autosomal recessive metabolic disorder which is caused by genetic mutations that disrupt the urea cycle. It is characterized by variable clinical presentation and the age of onset. Patients may present with gait disturbance and progressive paraplegia and muscle tightness in the lower extremities. The use of botulinum toxin in metabolic disease has rarely been discussed. We describe a case of a 14-year-old-boy with HHH syndrome, who presented with a several - month history of gait disturbance and lower extremity weakness. Case presentation : A 14-year old male had a history of recurrent upper respiratory tract infections, occasional vomiting, loss of appetite, and general weakness, all of which started since he was 10 months old. He was diagnosed with HHH syndrome at one year of age. At the age of 14, he was referred for the assessment and treatment of his gait disturbance and aggravated weakness of the lower extremities. Brain MRI, electrodiagnostic study and blood test were performed to exclude any lesions related to neurologic dysfunction. Botulinum toxin type A were injected into muscles of adductor longus, adductor magnus, lateral and medial hamstring, and lateral and medial gastrocnemius muscle heads under needle electromyography guidance to reduce lower limb spasticity. Intensive physical therapy including gait training and stretching exercise of adductor and calf muscles were also provided. After intensive physical therapy and botulinum toxin injection to reduce lower limb spasticity, he was able to ambulate for 20 meters independently without any walking aids. There were no adverse events after the injection. Conclusion : Botulinum toxin injection is a safe and effective therapy for patients with HHH syndrome who suffer from gait disturbance.

• Journal of Korean Foot and Ankle Society
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• v.8 no.1
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• pp.111-113
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• 2004

In neurogenic equinovarus deformity, surgical intervention such as tendon transfer or osteotomy can be expected to improve symptoms. However, in rare cases of hereditary spastic paraplegia, the deformity and paralysis gradually progress. So limited operation and early post-operative rehabilitation are preferred to aggressive operation. We would like to report our clinical experience with one case of hereditary spastic paraplegia patient with reference review. A 40 year-old male, given tendon transfer of ankle and foot and tendo achilles lengthening 10 years ago, complained about aggravated spastic paraplegia which resulted in dynamic equinovarus and limited walking ability since his operation. Family history showed limited walking ability of his father with gradually progressing spastic paralysis and he was diagnosed as hereditary spastic paraplegia type I. We had performed a limited operation such as tendo achilles and tibialis posterior lengthening to induce plantigrade standing and walking with crutch. As a result, the patient was able to maintain a stabilized standing posture and walk after the operation. Hereditary spastic paraplegia presents with a progressive paralysis which limits rehabilitation after tendon transfer, and the symptoms can be aggravated. Therefore, considering potential hereditary neurogenic disorders in paients with equinovarus deformity and performing limited operative procedures seem to be important.

• Journal of Yeungnam Medical Science
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• v.39 no.3
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• pp.181-189
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• 2022

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative condition characterized by loss of motor neurons, resulting in motor weakness of the limbs and/or bulbar muscles. Pain is a prevalent but neglected symptom of ALS, and it has a significant negative impact on the quality of life of patients and their caregivers. This review outlines the epidemiology, clinical characteristics, underlying mechanisms, and management strategies of pain in ALS to improve clinical practice and patient outcomes related to pain. Pain is a prevalent symptom among patients with ALS, with a variable reported prevalence. It may occur at any stage of the disease and can involve any part of the body without a specific pattern. Primary pain includes neuropathic pain and pain from spasticity or cramps, while secondary pain is mainly nociceptive, occurring with the progression of muscle weakness and atrophy, prolonged immobility causing degenerative changes in joints and connective tissue, and long-term home mechanical ventilation. Prior to treatment, the exact patterns and causes of pain must first be identified, and the treatment should be tailored to each patient. Treatment options can be classified into pharmacological treatments, including nonsteroidal anti-inflammatory drugs, antiepileptic drugs, drugs for cramps or spasticity, and opioid; and nonpharmacological treatments, including positioning, splints, joint injections, and physical therapy. The development of standardized and specific assessment tools for pain-specific to ALS is required, as are further studies on treatments to reduce pain, diminish suffering, and improve the quality of life of patients with ALS.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.110-114
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• 2018

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

• Annals of Clinical Neurophysiology
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• v.7 no.2
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• pp.138-140
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• 2005

Strumpell, in 1880, was the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogeneous in inheritance, age of onset, severity and associated signs. We present one family with autosomal dominant hereditary spastic paraplegia (HSP) due to SPG4 (spastin) gene mutation which is confirmed by genomic DNA isolated from peripheral blood.

• Journal of Korean Neurosurgical Society
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• v.47 no.3
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• pp.228-231
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• 2010

Posttraumatic syringomyelia may result from a variety of inherent conditions and traumatic events, or from some combination of these. Many hypotheses have arisen to explain this complex disorder, but no consensus has emerged. A 28-year-old man presented with progressive lower extremity weakness, spasticity, and decreased sensation below the T4 dermatome five years after an initial trauma. Magnetic resonance imaging (MRI) revealed a large, multi-septate syrinx cavity extending from C5 to L1, with a retropulsed bony fragment of L2. We performed an L2 corpectomy, L1-L3 interbody fusion using a mesh cage and screw fixation, and a wide decompression and release of the ventral portion of the spinal cord with an operating microscope. The patient showed complete resolution of his neurological symptoms, including the bilateral leg weakness and dysesthesia. Postoperative MRI confirmed the collapse of the syrinx and restoration of subarachnoid cerebrospinal fluid (CSF) flow. These findings indicate a good correlation between syrinx collapse and symptomatic improvement. This case showed that syringomyelia may develop through obstruction of the subarachnoid CSF space by a bony fracture and kyphotic deformity. Ventral decompression of the obstructed subarachnoid space, with restoration of spinal alignment, effectively treated the spinal canal encroachment and post-traumatic syringomyelia.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.23-26
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• 2016

Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, $CO_2$ laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.

• Journal of The Korean Society of Integrative Medicine
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• v.7 no.1
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• pp.113-124
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• 2019

Purpose : The purpose of this study is to investigate the effect of strengthening program for improving the muscle strength and body function in rehabilitation of patients with stroke Methods : We found the 15 precedent studies at online portal site of "Korea education and Research information service" and found 5 precedent studies at "Pubmed". We analyzed and describe the total 19 studies involving national and international research. Results : The strengthening exercise was adapted to lower extremities and trunk muscle of participants and the isokinetic (concentric and eccentric) exercise was most of exercise type and then manual isometric exercise, functional activities, progressive task oriented resistance exercise, PNF pattern exercise was following. The studies reported that the strengthening program increased target muscle strength and improved balance capacity and walking function for the participants positively. Conclusion : Conclusionally the several strengthening program can be the intervention to increase the muscle strength without increasing spasticity for patients with stroke. We think that the strengthening of lower extremities an improve balance capacity and walking ability and it can use the intervention to change the quality of life in patients with stroke. More than 3weeks strength program might be effectiveness, in case of acute patients with stroke, the improving of muscle strength is available but need to study for improving balance and walking capacity more in the future.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• Journal of Veterinary Clinics
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• v.23 no.3
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• pp.366-370
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• 2006

Arachnoid cysts are intra-arachnoid collections of cerebrospinal fluid. They may cause neurological deficit through expansion that can compress normal neural tissue and obstruct cerebrospinal fluid flow. Intracranial arachnoid cysts were found in 4 patients aged 10 months to 20 months(mean age 15 months). The presenting symptoms included circling(dog 2,3), seizure(dog 1), progressive weakness(dog 1,2,3), increasing scoliosis(dog 3), worsening spasticity(dog 3), and salivation(dog 3). One patient showed no symptoms from the intracranial arachnoid cyst. There were no significant findings in complete blood count and serum chemistry. Computed tomography(CT) with/without magnetic resonance imaging(MRI) scans were performed in these cases. Hypodense intracranial arachnoid cyst was observed on CT images in dog 4. Sagittal T1-weighted(T1W) and T2-weighted(T2W) images and transverse T1W and T2W images revealed a intracranial arachnoid cysts with syringohydromyelia(dog 3) and hydrocephalus(dog 3,4) in the brain. Clinical signs of three cases were improved by medication.