scholarly journals Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1

2021 ◽  
Author(s):  
Amit S Vatkar ◽  
Nisha Dolas ◽  
Vedashree Deshpande ◽  
Pallavi Wadhawan ◽  
Mumtaz Sharif
Keyword(s):  
Cerebral Palsy ◽  
Neurodegenerative Disorders ◽  
Birth Asphyxia ◽  
Lower Limbs ◽  
Heterozygous Mutation ◽  
Spastic Diplegia ◽  
Spastic Paraplegia ◽  
Hereditary Spastic Paraplegias ◽  
History Of ◽  
One Year

Spastic paraplegias are characterised by progressive rigidity and weakness of the lower limbs. Spastic paraplegia is a standard differential diagnosis for spastic diplegic cerebral palsy. Hereditary Spastic Paraplegias (HSP) are genetically and clinically heterogeneous group of neurodegenerative disorders causing paraplegias. Eighty forms of HSP have been noted and 64 genes have been identified. The Aldehyde Dehydrogenase 18 family member A1 (ALDH18A1) gene is located at 10q24.1 and it encodes delta-1-Pyrroline-5-Carboxylate Synthetase (P5CS), a mitochondrial bifunctional enzyme which is used for catalysing various amino acids. Mutations in this gene causes P5CS deficiency, which is responsible for neurodegenerative diseases. One should suspect neurometabolic conditions when no definite history of birth asphyxia is present in a case of cerebral palsy. Hereby, the authors report a case of a one-year-old male child with heterozygous mutation in ALDH18A1 gene resulting in spastic diplegia.

scholarly journals Clinical profile of cerebral palsy: a study from multidisciplinary clinic at tertiary care centre

2018 ◽  
Vol 5 (4) ◽  
pp. 1626
Author(s):  
Raj Kumar ◽  
Anand Kumar Gupta ◽  
Ritesh Runu ◽  
Sanjay Kumar Pandey ◽  
Manish Kumar
Keyword(s):  
Cerebral Palsy ◽  
Motor Function ◽  
Tertiary Care ◽  
Birth Asphyxia ◽  
Cross Sectional Study ◽  
Spastic Diplegia ◽  
Care Centre ◽  
Tertiary Care Centre ◽  
Cross Sectional ◽  
History Of

Background: Cerebral Palsy (CP) is combined disorder of movement, posture, and motor function and may be associated sensory, neurological and musculoskeletal complications.  It is a permanent condition attributed to nonprogressive disturbances that occurred in the developing brain. The aim of this study is to Cerebral Palsy (CP) is combined disorder of movement, posture, and motor function and may be associated sensory, neurological and musculoskeletal complications.  It is a permanent condition attributed to nonprogressive disturbances that occurred in the developing brain.Methods: Retro prospective cross-sectional study done in super speciality tertiary care centre of East India. Total 70 Children enrolled in multidisciplinary CP clinic in Physical medicine and Rehabilitation (PMR) OPD between September 2017- March 2018.Results: 78.57%male and 21.42% female, all had hospital delivery with 78.5% had normal and 21.5% caesarean section. 70% had history of birth asphyxia and 61.5% required NICU admission. 61.4% had birth wt. less than 2 kg and 10% had birth wt. less than 1kg. One fourth cases had microcephaly and one third had history of seizures. Visual abnormalities, Hearing impairment and history of jaundice were found in about one sixth children. Spastic CP was the most common (76% cases) followed by Dyskinetic 10%, Hyponic and Ataxic (1%). In spastic CP Diplegia was most common (55%), followed by Quadriplegia 24%, Hemiplegia 19% and Monoplegia 2%. GMFCS score 5 was seen in 29% (mostly quadriplegic), followed by GMFCS level 1, 21.27% (mostly hemiplegic), others mostly diplegic in level 3(19%), level 2 and 4 (14%).Conclusions: Male CP are more reaching tertiary care centre in Bihar. Perinatal factors (asphyxia) were main etiological risk factor, and Spastic Diplegia is the most common type of CP. Disability need to be detected at the earliest to facilitate a timely and appropriate intervention like early rehabilitation, special education and psycho-social support.

Coupled obturator neurotomies and lidocaine intrathecal infusion to treat bilateral adductor spasticity and drug-refractory pain

2010 ◽  
Vol 113 (3) ◽  
pp. 528-531 ◽  
Author(s):  
José D. Carrillo-Ruiz ◽  
Pablo Andrade ◽  
Nora Godínez-Cubillos ◽  
María L. Montes-Castillo ◽  
Fiacro Jiménez ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Scale Score ◽  
Infusion Pump ◽  
Spastic Diplegia ◽  
Somatic Pain ◽  
Refractory Pain ◽  
Visual Analog Scales ◽  
Postoperative Control ◽  
History Of ◽  
Multiple Treatments

Spastic diplegia is present in three-fourths of children with cerebral palsy, interfering with gait and frequently accompanied by severe pain. The authors report the case of a 28-year-old woman with history of perinatal hypoxia, who presented with cerebral palsy and severe spastic diplegia (Ashworth Scale Score 4, Tardieu Scale Score 5) and was confined to a wheelchair. She complained of pain in the left hip and knee with mixed neuropathic and somatic components. She consistently rated pain intensity as 10 of 10 on a visual analog scale, and her symptoms were resistant to multiple treatments. The patient underwent selective bilateral adductor myotomies and the implantation of an infusion pump for intrathecal lidocaine application. Postoperative control of pain and spasticity was dramatic (scores of 0 on the Ashworth, Tardieu, and visual analog scales) and persisted throughout a follow-up period of 36 months. This is the first report in the literature of combined selective neurotomies for the treatment of spasticity and chronic lidocaine subarachnoid infusion to treat associated pain. This therapy could represent an alternative to treat spasticity associated with neuropathic and somatic pain.

scholarly journals Primary Aneurysm of the Medial Marginal Vein of the Foot

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
D. Casian ◽  
V. Culiuc
Keyword(s):  
Duplex Ultrasound ◽  
Clinical Findings ◽  
Lower Limbs ◽  
Venous Aneurysm ◽  
Marginal Vein ◽  
Second Trimester ◽  
Surgical Department ◽  
Previous Trauma ◽  
History Of ◽  
One Year

The primary superficial venous aneurysms of the foot are very rare. A 34-year-old female patient developed a dorsal foot mass during the second trimester of pregnancy with no history of previous trauma, puncture, or infection. One year later, she was referred to the surgical department for excision of “foot hygroma.” Based on the clinical findings, the venous aneurysm was suspected and duplex ultrasound confirmed the diagnosis of the aneurysm of the medial marginal vein of the foot. Excision of aneurysm with bipolar ligation of marginal vein was performed under local anesthesia. The postoperative evolution was uneventful. The authors hope that the presented case report will increase the awareness of general practitioners, dermatologists, and surgeons regarding the superficial venous aneurysms of lower limbs.

scholarly journals Hereditary spastic paraplegia: An “ears of the lynx” magnetic resonance imaging sign in a patient with recessive genetic type 11

2020 ◽  
pp. 197140092095382
Author(s):  
Emiliano Ruiz Romagnoli ◽  
Manuel Perez Akly ◽  
Luis A Miquelini ◽  
Jorge A Funes ◽  
Cristina H Besada
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Brain Magnetic Resonance Imaging ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Resonance Imaging ◽  
Hereditary Spastic Paraplegias ◽  
Monogenic Diseases

Hereditary spastic paraplegias are an uncommon group of monogenic diseases that include 79 types of genetic disorders. The most frequent cause of recessive hereditary spastic paraplegia is a mutation in the spastic paraplegia gene type 11 followed by type 15. This group is usually associated with non-specific clinical features like cognitive decline and may precede the progressive weakness and spasticity of lower limbs. The magnetic resonance imaging hallmark of hereditary spastic paraplegia is thinning of the spinal cord. However, brain magnetic resonance imaging may provide relevant clues for specific hereditary spastic paraplegia subtypes, and thinning of the corpus callosum has been described as the most frequent abnormality in almost one-third of recessive hereditary spastic paraplegias. Moreover, a characteristic abnormality affecting the forceps minor of the corpus callosum has been recently reported as the “ears of the lynx” sign and is highly suggestive of type 11 and 15 hereditary spastic paraplegias. We report a patient who was diagnosed with hereditary spastic paraplegia type 11 by exome genetic testing, presenting the ears of the lynx sign in the first magnetic resonance imaging assessment.

scholarly journals A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene

2021 ◽  
pp. 763-771
Author(s):  
Yuichi Akaba ◽  
Ryo Takeguchi ◽  
Ryosuke Tanaka ◽  
Satoru Takahashi
Keyword(s):  
Cognitive Impairment ◽  
Corticospinal Tract ◽  
Focal Epilepsy ◽  
Clinical Manifestations ◽  
Missense Variant ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Microtubule Severing ◽  
Hereditary Spastic Paraplegias ◽  
Progressive Weakness

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in <i>SPAST</i> on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia type 4 (SPG4), the most common form of HSPs. SPG4 is characterized by a clinically pure phenotype that is associated with restricted involvement of the corticospinal tract; however, it is often accompanied by additional neurological symptoms such as epilepsy and cognitive impairment. There are few reports regarding the clinical course and treatment of epilepsy associated with SPG4. We describe a 21-year-old male patient with progressive weakness and spasticity of the lower limbs since infancy, which was complicated by epilepsy and cognitive impairment. Magnetic resonance imaging of the brain showed right hippocampal atrophy before the onset of epilepsy. Genetic analysis revealed a novel missense variant (NM_014946.4:c.1330G&#x3e;C, p.Asp444His) in the <i>SPAST</i> gene. At the age of 13, the patient developed focal epilepsy, characterized by focal onset seizures that were preceded by a sensation of chest tightness. Carbamazepine, levetiracetam, and zonisamide were ineffective in controlling the seizures; however, the use of lacosamide in combination with lamotrigine and valproate was highly effective in improving the seizure symptoms and led to the patient being seizure free for at least 2 years. In conclusion, the missense variant in <i>SPAST</i> may cause a complex SPG4 phenotype accompanied by epilepsy and cognitive impairment, suggesting that the clinical manifestations of this condition do not confine to the motor system.

Intradural Dorsolumbar Disc Herniation: Case Report and Literature Review

2021 ◽  
Vol 07 (02) ◽  
pp. 01-04
Author(s):  
Norbery Paz
Keyword(s):  
Magnetic Resonance ◽  
Disc Herniation ◽  
Lower Limbs ◽  
Herniated Disc ◽  
Magnetic Resonance Study ◽  
Intradural Disc Herniation ◽  
History Of ◽  
Intradural Extramedullary ◽  
One Year ◽  
Imaging Signs

Intradural disc herniation is a rare entity, representing between 0.26% and 0.30% of all herniated discs. 92% of cases occur in the lumbar spine, more frequent at the L4-L5 level. The diagnostic and therapeutic conduct performed in a 61-year-old male patient who came to the office with a one-year and six-month history of dorsolumbar pain is described, accompanied by sensory alterations in the lower limbs. In view of the exacerbation of symptoms, a simple magnetic resonance study was performed, observing an intraspinal, intradural, extramedullary lesion at the D12-L1 space. An intradural disc herniation is suspected.After being evaluated the case in the group of Neurosurgeons (Group of Spinal Surgery) of the Institute of Neurology and Neurosurgery of Havana, it is proposed to carry out surgical treatment, which consisted of the extraction with microsurgical technique of the Herniated disc, preserving the vertebral anatomy through the laminoplasty technique, an open book variant. The patient evolved satisfactorily after three months of follow-up. It is concluded that intradural disc herniation should be included among intradural, extraxial lesions of the spine. By means of the magnetic resonance study, a group of imaging signs that support the preoperative diagnosis of this lesion can be described. Surgery is the definitive therapeutic method and allows an accurate diagnosis of spinal herniation to be established.

Clinical characteristics of children with cerebral palsy in Chengdu, China: A cross-sectional study

2018 ◽  
Author(s):  
Luo Rong
Keyword(s):  
Cerebral Palsy ◽  
Motor Function ◽  
Classification System ◽  
Birth Asphyxia ◽  
Developed Countries ◽  
Fine Motor ◽  
Spastic Diplegia ◽  
Cross Sectional ◽  
Fine Motor Function ◽  
Children With Cerebral Palsy

Objective: To describe the subtypes, motor function, and comorbidities of cerebral palsy (CP) in children in Chengdu, China.Methods: A cross-sectional survey of children with CP was performed in 2013 and participants were enrolled from the branches of China Disabled Persons’ Federation in Chengdu. Diagnosis, clinical subtypes, gross and fine motor function outcomes, and comorbidities of CP were determined through caregiver interviews, evaluation of medical records, and thorough physical examinations.Results: Four-hundred and twenty-two children were diagnosed with CP (mean age, 7.7 ± 3.8 years). Spastic diplegia was the predominating subtype (35%). Mild impairments in gross and fine motor function were present in 45% and 52% of the patients, respectively. Cognitive impairment (60%) was the most common comorbidity, and was followed by language disorder (41%) and microcephaly (35%). About 79% of children with cerebral palsy had at least one comorbidity, and the number of cumulative comorbidities was positively correlated with Gross Motor Function Classification System and Manual Ability Classification System scores. Preterm birth (52%) was the most common risk factor, and was followed by low birth weight (42%) and birth asphyxia (27%).Conclusion: Distributions of CP subtypes, motor functions, and comorbidities in a Chinese population were similar to those in developed countries, but different from those in other developing countries. The trend for decreased numbers of children with preterm CP since 2009 indicates an improvement in neonatal care. However, perinatal healthcare should still be improved to reduce the occurrence of birth asphyxia.

scholarly journals Dysplastic L5-S1 Spondyloptosis in a 3-Year-Old Child: A Case Report and Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-7
Author(s):  
Vikas Tandon ◽  
Rahul Kaul ◽  
Harvinder Singh Chhabra ◽  
Ankur Nanda
Keyword(s):  
Interbody Fusion ◽  
Pedicle Screws ◽  
Lower Limbs ◽  
Daily Routine ◽  
Surgery Patient ◽  
Initial Stage ◽  
History Of ◽  
Definitive Surgery ◽  
One Year

A three-year-old girl presented with primary complaint of severe low back pain with radiation to both lower limbs below the knees since 2 months following history of fall and marked restriction of her daily routine activities. After clinicoradiological evaluation she was diagnosed of having dysplastic L5-S1 spondyloptosis. A staged procedure was planned after thorough discussion with her parents. During initial stage she underwent posterior decompression along L5-S1 segment including exposure of bilateral L5 and S1 nerve roots followed by instrumented reduction (L3-S2 5.5 mm pedicle screws) utilizing a rotational-translational technique. No interbody fusion was done at L5-S1 level and inner nuts of bilateral L3, L4, and S2 screws were intentionally kept loose. Subsequently after about symptom-free three-year follow up, she presented with recurrence of symptoms and underwent revision surgery as per initial plan discussed with her parents. Removals of posterior implants were done followed by stabilization with larger diameter pedicle screws (6.5 mm) at L5 and S1 level. During the same stage through anterior transperitoneal approach L5-S1 interbody fusion was done. At one-year follow-up after second-stage definitive surgery, patient remains symptom-free and fully active without any radiological evidence of reduction loss or implant failure.

scholarly journals Cerebral Palsy: A Unique Illustrated Experience.

2020 ◽  
pp. 1-13
Keyword(s):  
Cerebral Palsy ◽  
Developmental Delay ◽  
Motor Development ◽  
Muscle Relaxation ◽  
Birth Asphyxia ◽  
Heterogeneous Condition ◽  
Limited Mobility ◽  
History Of ◽  
Treatment Plans ◽  
Near Future

Abstract Background: Cerebral palsy is a heterogeneous condition associated with a non-progressive lesion causing permanent disorder of movement with limited mobility and is generally associated with gross motor developmental delay. In moderate to severe cases of cerebral palsy, motor developmental milestones such as walking may never be achieved. Impaired cognition and delayed speech are also commonly seen. The aim of this paper is describing our illustrated experience with cerebral palsy with emphasis on treatment with multi-factorial therapies. Patients and methods: Seventeen patients with cerebral palsy are described in this paper including two female patients whose early treatment courses were included in previous publications and 15 new cases (11 males and 4 females) observed during seven months period (May-November, 2019). Their ages ranged from 10 months to 9 years. Ten patients had significant spasticity limiting their movements. All patients had developmental delay including delayed speech. Nine patients were unable to sit without support, including a patient with significant dystonia and a patient who could stand and walk with support but was unable to sit without support. Only two patients were able to walk alone, but slowly and with difficulty. Two patients had history of birth asphyxia and one patient had a genetic condition with 2 of his brothers being affected. The patients were treated based on our published experiences with individualized treatment plans providing a combination of various interventions including nutritional support, muscle relaxants, oral pyritinol, intramuscular piracetam, citicoline (oral and injectable), intramuscular cerebrolysin and intramuscular nandrolone decanoate. The aims of these therapies include overcoming spasticity, repairing the brain and improving its function and ultimately improving mobility and advancing development. Results: All patients experienced improvement in motor development without the occurrence of any side effect. However, it was not possible to document the details of treatments and follow-up for all patients, but it was possible to provide an illustrated demonstration of improvement in seven patients. Conclusion: Cerebral palsy is a heterogeneous condition and the emergence of a single therapeutic agent that offers a comprehensive effect to improve its manifestations is very unlikely is the near future. Therefore, the use of evidence-based multi-factorial therapies is advisable. Adequate muscle relaxation is vital to prevent the complications of contractures which appear to cause a progressive disability.

scholarly journals Etiology, outcomes and co-morbidities among cerebral palsy children attending tertiary care hospital, India: a prospective study

2019 ◽  
Vol 6 (3) ◽  
pp. 1023
Author(s):  
N. Dushyanth Subramaniam ◽  
Antony Jenifer ◽  
Uma Devi L. ◽  
Suresh P.
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Cerebral Palsy ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Birth Asphyxia ◽  
Care Hospital ◽  
Maternal Risk ◽  
Prolonged Labour ◽  
History Of

Background: Cerebral palsy is the most common aetiology for motor dysfunction among children worldwide. It is associated with range of co-morbid conditions that affects the quality of life. Cerebral palsy has been studied extensively in western countries and there are only few articles available on epidemiological information in developing countries and low resource settings. This study focuses on the aetiology, risk factors, types and co-morbidities in cerebral palsy.Methods: Cerebral palsy children attending tertiary care hospital were prospectively recruited into the study. The study was conducted during January 2017 to July 2018. The cross-sectional study included complete prenatal, natal and postnatal history of the participants, BERA and Ophthalmological examinations were done.Results: One hundred and fifty children with cerebral palsy were enrolled. The mean age of participants were 36±30 months.  Male to female ratio was 2.19:1. The most common maternal risk factor among study participants was consanguinity in marriage (23.33%). 16% had prolonged labour and 10% had toxaemia during pregnancy. 47% of the children were born by institutional normal vaginal delivery. The most common neonatal risk factor was Birth Asphyxia (23%), low birth weight (20%) and neonatal sepsis (21%). 122 had spastic type of cerebral palsy. The most common morbidity associated with cerebral palsy was Gastro intestinal disturbances in 61% of the participants.Conclusions: History of prolonged labour and birth asphyxia were risk factors for cerebral palsy. Spastic CP is the most common type. Malnutrition, Gross Motor delay, Seizures, Mental retardation were the most common morbidities associated with CP. 

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