Two novel mutations in ALDH18A1 and SPG11 genes found by whole-exome sequencing in spastic paraplegia disease patients in Iran

Komachali, Sajad Rafiee,Siahpoosh, Zakieh,Salehi, Mansoor Korea Genome Organization 2022 Genomics & informatics Vol.20 No.3

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

A Case of Psychogenic Paraplegia Documented During Sleep by Video Monitoring

오형근,이경석,박형국,양광익 대한수면연구학회 2009 Journal of sleep medicine Vol.6 No.1

Psychogenic paraplegia is an uncommon conversion disorder characterized by nonorganic loss of motor function precipitated by some type of traumatic event. A 60-year-old man was referred from neurosurgery department with the chief complaint of paraplegia. One year ago he was involved in a motor vehicle accident. Whole spine magnetic resonance imaging (MRI) and electrophysiological study couldn’t explain the organic cause of paraplegia. We decided to observe him during his sleep as we suspected a psychogenic cause for the symptoms. Irregular, non-stereotyped and involuntary leg movements were documented during sleep by video monitoring, and he was diagnosed as psychogenic paraplegia. In conclusion, if a psychogenic paraplegia is suspected, video monitoring during sleep could be recommended as a differentiation tool from neurological disorder.

Paraplegia due to Acute Aortic Coarctation and Occlusion

Park, Chang-Bum,Jo, Dae-Jean,Kim, Min-Ki,Kim, Sang-Hyun The Korean Neurosurgical Society 2014 Journal of Korean neurosurgical society Vol.55 No.3

Coarctation and occlusion of the aorta is a rare condition that typically presents with hypertension or cardiac failure. However, neuropathy or myelopathy may be the presenting features of the condition when an intraspinal subarachnoid hemorrhage has compressed the spinal cord causing ischemia. We report two cases of middle-aged males who developed acute non-traumatic paraplegia. Undiagnosed congenital abnormalities, such as aortic coarctation and occlusion, should be considered for patients presenting with nontraumatic paraplegia in the absence of other identifiable causes. Our cases suggest that spinal cord ischemia resulting from acute spinal subarachnoid hemorrhage and can cause paraplegia, and that clinicians must carefully examine patients presenting with nontraumatic paraplegia because misdiagnosis can delay initiation of the appropriate treatment.

Painless Thoracic Aortic Dissection Presenting as High Paraplegia

허정호 고신대학교(의대) 고신대학교 의과대학 학술지 2007 고신대학교 의과대학 학술지 Vol.22 No.1

Acute aortic dissection is a catastrophic episode that usually presents as a sudden, painful, ripping sensation in the chest or back. Physical findings may include loss of pulses and aortic regurgitation. It is associated with neurologic sequelae in as many as one third of patients. Painless dissection occurs in 5% of patients. We report a case of painless aortic dissection, presenting as acute paraplegia. The patient was a 59-year-old man who presented with paraplegia, with no chest or back pain. On examination, strength was 5/5 in both upper extremities and 0/5 in both lower extremities. Computed tomography of the chest revealed a type A dissecting aneurysm. Painless acute aortic dissection in which paraplegia is the only presenting sign is very rare. However, aortic diseases, including acute aortic dissection, should always be considered as a differential diagnosis of patients with sudden onset, painless paraplegia.

Painless Thoracic Aortic Dissection Presenting as High Paraplegia : A Case Report

Heo, Jung Ho 고신대학교의과대학 2007 고신대학교 의과대학 학술지 Vol.22 No.1

Acute aortic dissection is a catastrophic episode that usually presents as a sudden, painful, ripping sensation in the chest or back. Physical findings may include loss of pulses and aortic regurgitation. It is associated with neurologic sequelae in as many as one third of patients. Painless dissection occurs in 5% of patients. We report a case of painless aortic dissection, presenting as acute paraplegia. The patient was a 59-year-old man who presented with paraplegia, with no chest or back pain. On examination, strength was 5/5 in both upper extremities and 0/5 in both lower extremities. Computed tomography of the chest revealed a type A dissecting aneurysm. Painless acute aortic dissection in which paraplegia is the only presenting sign is very rare. However, aortic diseases, including acute aortic dissection, should always be considered as a differential diagnosis of patients with sudden onset, painless paraplegia.

진행성 하지 마비를 동반한 경추부 후관절 낭종 - 증례 보고 및 문헌 고찰 -

서형연,정재윤,박기헌,신영주 대한척추외과학회 2011 대한척추외과학회지 Vol.18 No.1

Study Design: A case report and literature review. Objectives: To report a patient with a cervical facet cyst causing progressive paraplegia, and to review the clinical features, treatment and outcomes of a cervical facetal cyst. Summary of Literature Review: Extradural intraspinal synovial cysts of the cervical spine are quite rare. They typically occur in the cervical region at the C1-C2 junction or in the space adjacent to the facet joints in the lower cervical spine, and show similar clinical features to the intervertebral disc protrusion. Materials and Methods: This article reports a case of a male patient, 64 years old, who presented with a 2 day history of numbness below the nipple and progressive paraplegia. A physical examination at admission revealed a wheelchair ambulatory state due to a motor deficit (motor grade good) below both hip flexors. Magnetic resonance imaging of the cervical spine showed an extradural lesion with a left lateral extension between C7 and T1, causing spinal cord compression. The patient underwent a hemi-laminectomy of C7 and complete cyst excision through the posterior approach. His motor power improved to almost normal. Results: The patient showed good recovery of myelopathy, and he was able to walk with a cane 3 months after surgery. A 1 year followup did not reveal any recurrence or new neurological conditions. Conclusion: Cervical facet cysts are rare lesions that are occasionally signaled by progressive paraplegia but can be treated successfully by a surgical excision. Key Word: Facet cyst, Cervical spine, Progressive paraplegia 연구 계획: 증례보고 및 문헌고찰목적: 진행성 하지 마비를 동반한 경추부 후관절 낭종을 치료한 증례를 보고하면서 경추부 후관절 낭종의 임상적 특징, 치료 및 결과를 문헌고찰을 통해알아보고자 하였다. 선행문헌의 요약: 경추부 후관절 낭종은 매우 드문 질환으로 추간판 탈출증과 유사한 임상적 증상을 유발할 수 있으며, 제 1-2 경추간 또는 하부 경추의후관절 근접부에서 흔하게 발생한다. 대상 및 방법: 64세 남자 환자가 내원 2일 전부터 발생한 진행성 하지마비로 인한 보행장애 및 가슴 하방의 감각 이상을 주소로 내원하였다. 신체 검사상 휠체어 보행 상태로 양측 고관절 굴곡근 이하의 하지 근력이 4 등급으로 감소되어 있었다. 자기공명영상 소견상 좌측 제 7 경추-1 흉추 후관절 전방에 척수를 압박하는 둥근 종물이 관찰되었다. 제 7 경추 추궁판 부분 절제술 및 낭종 제거술을 시행하였으며, 술 후 정상에 가까울 정도로 근력이 회복되었다. 결과: 수술 후 3개월 외래 추시상 지팡이 짚고 보행 가능할 정도로 근력이 회복되었으며, 1년째 추시 관찰 상 재발소견은 관찰되지 않았다. 결론: 경추의 후관절 낭종은 드문 질환으로 진행성 신경 마비를 일으킬 수 있으나, 수술적 절제로 치료 가능한 질환이다. 색인단어: 후관절 낭종, 경추, 진행성 신경마비약칭제목: 하지 마비를 동반한 후관절 낭종

Fatal Aortic Tumor Embolism Presenting as Acute Paraplegia

Jin, Sung-Chul,Cho, Do-Sang,Song, Jun-Hyeok The Korean Neurosurgical Society 2006 Journal of Korean neurosurgical society Vol.39 No.1

We report a case of fatal aortic tumor embolism presenting as acute paraplegia. A four-year-old girl was referred from a local hospital with sudden paraplegia and a poor medical condition. A neighbor had noticed her fall from a bike, and she could not walk. She had no previous illness. Emergency spine MRI revealed no remarkable findings. During the process of evaluation, her general condition deteriorated progressively. Chest and abdominal CT showed a large mass in the left lung field, and a diagnosis of aortic occlusion was made. An emergency transfemoral embolectomy was attempted. However, the patency of the aorta was not recovered. On pathological examination of tissues taken from the embolectomy, a pleuro-pulmonary blastoma was found. The patient died 22 hours after the onset of her symptoms. We describe a possible mechanism for the tumor embolism. To the best of our knowledge, this is the first case report of aortic occlusion caused by an embolic malignancy, presenting as acute paraplegia.

강직성 척추염이 있는 환자에서 고관절 골절 수술 이후 발생한 마비 - 증례 보고 -

강신욱,손홍문,유재원 대한척추외과학회 2017 대한척추외과학회지 Vol.24 No.4

Study Design: Case report. Objectives: To report a case of paraplegia in a patient with thoracic kyphosis after osteosynthesis for a fracture of the femur. Summary of the Literature Review: There are few reports about cases of paraplegia after low extremity fracture surgery in patients with thoracic kyphosis with ankylosing spondylitis. Materials and Methods: An 86-year-old female patient presented with right hip pain. She had undergone surgery for an intertrochanteric fracture of the femur in the supine position under general anesthesia. Immediately after surgery, she showed paraplegia. Postoperative thoracolumbar spine images revealed a fracture through the disc at T12 and L1. However, she did not complain of back pain or any neurologic deficits before surgery. Results: Although the patient underwent emergent posterior decompression and fusion surgery, her neurologic compromise did not improve during 1 year of follow-up. Conclusions: It is necessary to check preoperative spine radiographs before surgery in elderly patients who have a kyphotic deformity and lower extremity fractures. Surgeons should consider changing the position of the patient and the type of anesthesia used during surgery when spine stability is in doubt. 연구 계획: 후향적 연구목적: 수술전 흉추 후만변형이 있는 환자에서 대퇴골 골절수술 이후 마비가 발생한 증례에 대하여 보고하고자 한다. 선행 연구문헌의 요약: 강직성 척추염으로 후만 변형이 있는 환자에서 하지 골절 수술 후 하지 마비가 발생한 경우에 대한 보고는 드물다. 대상 및 방법: 86세 여자환자가 우측 고관절 통증으로 내원하였다. 환자는 전신마취하에 앙와위로 대퇴골 전자간 골절에 대한 수술을 받았고 수술 직후양측 하지 마비가 발생하였다. 수술 후 방사선 촬영에서 제 12흉추 및 1요추 추간판 부위의 골절이 확인되었다. 수술 전 환자는 요통이나 하지 신경학적증상을 호소하지는 않았었다. 결과: 응급수술로 후방 감압술 및 유합술을 받았으나 1년 추시관찰 후에도 하지의 마비는 회복되지 않았다. 결론: 고령의 척추 변형을 동반한 환자에서 하지 골절이 동반된 경우 반드시 수술 전에 척추 방사선 사진을 확인하고 척추의 안정성이 의심될 경우에는환자에 따라 마취 및 수술 자세의 변화에 대한 고려가 필요합니다. 약칭 제목: 대퇴골 골절수술 이후 발생한 마비

Transient paraplegia after neurolytic splanchnic block in a patient with metastatic colon carcinoma

( Gonca Oguz ),( Gulcin Senel ),( Nesteren Kocak ) 대한통증학회 2018 The Korean Journal of Pain Vol.31 No.1

We present a patient with metastatic colon carcinoma who developed paraplegia following a neurolytic splanchnic block. A 41-year old man with metastatic adenocarcinoma of the colon received a splanchnic neurolytic block using alcohol because of severe abdominal pain. Bilateral motor weakness and a sensorial deficit in both legs developed after the procedure. Diffusion magnetic resonance imaging revealed spinal cord ischemia between T8 and L1. The motor and sensorial deficits were almost completely resolved at the end of the third month. We think that anterior spinal artery syndrome due to reversible spasms of the lumbar radicular arteries using alcohol have resulted in transient paraplegia. The retrograde spread of alcohol to neural structures may have also contributed. (Korean J Pain 2018; 31: 50-3)

Neurologic Complications in Percutaneous Nephrolithotomy

Abbas Basiri,Mohammad Hossein Soltani,Mohammadreza Kamranmanesh,Ali Tabibi,Seyed Amir Mohsen Ziaee,Akbar Nouralizadeh,Farzaneh Sharifiaghdas,Mahtab Poorzamani,Babak Gharaei,Ardalan Ozhand,Alireza Lash 대한비뇨의학회 2013 Investigative and Clinical Urology Vol.54 No.3

Purpose: Percutaneous nephrolithotomy (PCNL) has been the preferred procedure for the removal of large renal stones in Iran since 1990. Recently, we encountered a series of devastating neurologic complications during PCNL, including paraplegia and hemiplegia. There are several reports of neurologic complications following PCNL owing to paradoxical air emboli, but there are no reports of paraplegia following PCNL. Materials and Methods: We retrospectively reviewed the medical records of patients who had undergone PCNL in 13 different endourologic centers and retrieved data related to neurologic complications after PCNL, including coma, paraplegia, hemiplegia,and quadriplegia. Results: The total number of PCNL procedures in these 13 centers was 30,666. Among these procedures, 11 cases were complicated by neurologic events, and four of these cases experienced paraplegia. All events happened with the patient in the prone position with the use of general anesthesia and in the presence of air injection. There were no reports of neurologic complications in PCNL procedures performed with the patient under general anesthesia and in the prone position and with contrast injection. Conclusions: It can be assumed that using room air to opacify the collecting system played a major role in the occurrence of these complications. Likewise, the prone position and general anesthesia may predispose to these events in the presence of air injection.