Symbrachydactyly: A Case Report

2020 ◽  
Vol 34 (4) ◽  
pp. 246-247
Author(s):  
Kariman Ghazal ◽  
Mariam Rajab ◽  
Amal Naous ◽  
Loubna Sinno

Symbrachydactyly is a disruption of embryonic formation and differentiation that leads to a shorter and smaller upper limb with underdeveloped digits such as short or webbed digits, nubbins, or absence of digits. We report a case of a newborn who had symbrachydactyly of multiple digits in the right hand that was not diagnosed during the prenatal period.

2012 ◽  
Vol 6 (4) ◽  
pp. 49-52
Author(s):  
N Satyanarayana ◽  
R Guha ◽  
P Sunitha ◽  
GN Reddy ◽  
G Praveen ◽  
...  

Brachial plexus is the plexus of nerves, that supplies the upper limb.Variations in the branches of brachial plexus are common but variations in the roots and trunks are very rare. Here, we report one of the such rare variations in the formations of the lower trunk of the brachial plexus in the right upper limb of a male cadaver. In the present case the lower trunk was formed by the union of ventral rami of C7,C8 and T1 nerve roots. The middle trunk was absent. Upper trunk formation was normal. Journal of College of Medical Sciences-Nepal,2011,Vol-6,No-4, 49-52 DOI: http://dx.doi.org/10.3126/jcmsn.v6i4.6727


2018 ◽  
Vol 35 (01) ◽  
pp. 9-13
Author(s):  
E. Lasch ◽  
M. Nazer ◽  
L. Bartholdy

AbstractThis study presents a bilateral variation in the formation of trunks of brachial plexus in a male cadaver. The right brachial plexus was composed of six roots (C4-T1) and the left brachial plexus of five roots (C5-T1). Both formed four trunks thus changing the contributions of the anterior divisions of the cervical nerves involved in the formation of the cords and the five main somatic motor nerves for the upper limb. There are very few case reports in the scientific literature on this topic; thus making the present study very relevant.


2019 ◽  
Vol 7 (2.2) ◽  
pp. 6527-6530
Author(s):  
Mohd Arshad ◽  
◽  
Fateh Mohammad ◽  
Rajesh Kumar ◽  
Kamil Khan ◽  
...  
Keyword(s):  

HAND ◽  
1983 ◽  
Vol os-15 (2) ◽  
pp. 221-222 ◽  
Author(s):  
J. G. Andersen ◽  
J. W. Brandsma

A patient is presented with bilateral thenar paralysis, due to poliomyelitis. On the right hand a successful abductor digiti minimi transfer was performed. On the left hand weakness of the hypothenar muscles prevented a good result. Subsequently an opponens replacement, using flexor digitorum superficialis from the ring finger, yielded a good result.


2007 ◽  
Vol 65 (2b) ◽  
pp. 524-527 ◽  
Author(s):  
Marco Antonio Orsini Neves ◽  
Marcos R.G. de Freitas ◽  
Mariana Pimentel de Mello ◽  
Carlos Henrique Dumard ◽  
Gabriel R. de Freitas ◽  
...  

Monomelic amyotrophy (MA) is a rare condition in which neurogenic amyotrophy is restricted to an upper or lower limb. Usually sporadic, it usually has an insidious onset with a mean evolution of 2 to 4 years following first clinical manifestations, which is, in turned, followed by stabilization. We report a case of 20-years-old man who presented slowly progressive amyotrophy associated with proximal paresis of the right upper limb, which was followed by clinical stabilization 4 years later. Eletroneuromyography revealed denervation along with myofasciculations in various muscle groups of the right upper limb. We call atention to this rare location of MA, as well as describe some theories concerning its pathophysiology .


2009 ◽  
Vol 106 (17) ◽  
pp. 7197-7202 ◽  
Author(s):  
Claudia D. Vargas ◽  
Antoine Aballéa ◽  
Érika C. Rodrigues ◽  
Karen T. Reilly ◽  
Catherine Mercier ◽  
...  

The human primary motor cortex (M1) undergoes considerable reorganization in response to traumatic upper limb amputation. The representations of the preserved arm muscles expand, invading portions of M1 previously dedicated to the hand, suggesting that former hand neurons are reassigned to the control of remaining proximal upper limb muscles. Hand allograft offers a unique opportunity to study the reversibility of such long-term cortical changes. We used transcranial magnetic stimulation in patient LB, who underwent bilateral hand transplantation 3 years after a traumatic amputation, to longitudinally track both the emergence of intrinsic (from the donor) hand muscles in M1 as well as changes in the representation of stump (upper arm and forearm) muscles. The same muscles were also mapped in patient CD, the first bilateral hand allograft recipient. Newly transplanted intrinsic muscles acquired a cortical representation in LB's M1 at 10 months postgraft for the left hand and at 26 months for the right hand. The appearance of a cortical representation of transplanted hand muscles in M1 coincided with the shrinkage of stump muscle representations for the left but not for the right side. In patient CD, transcranial magnetic stimulation performed at 51 months postgraft revealed a complete set of intrinsic hand-muscle representations for the left but not the right hand. Our findings show that newly transplanted muscles can be recognized and integrated into the patient's motor cortex.


2016 ◽  
Vol 70 (2) ◽  
pp. 99-103
Author(s):  
Vladimir Mirchevski ◽  
Elizabeta Zogovska ◽  
Aleksandar Chaparoski ◽  
Venko Filipce ◽  
Ljuljzim Agai ◽  
...  

Abstract Introduction. Carpenter syndrome is a polymorphic disorder transmitted by autosomal recessive inheritance, caused by mutations in the RAB23 gene [1]. These genetic disorders are reflected on the biogenesis of intracranial structures. This syndrome was described for the first time in 1900 by the British doctor George Carpenter. It may include congenital heart diseases, mental retardation, hypogonadism, obesity, umbilical hernia, developmental disorder, bone anomalies and frequent respiratory infections. Carpenter syndrome has two main features: craniosynostosis and more than five fingers or toes [2-4]. Aim. To present our experience in treatment of an infant with Carpenter syndrome including trigonocephaly and polydactyly. Case report. In May 2003, an eleven-month-old male infant with Carpenter syndrome was hospitalized in the Pediatric Department of the University Clinic of Neurosurgery in Skopje, Republic of Macedonia. The infant was referred to our Department from the University Pediatric Clinic because of trigonocephaly and polydactyly with two thumbs on his right hand. The infant had already been twice hospitalized at the University Pediatric Clinic for two recurrent lung infections suggestive of Carpenter syndrome. The diagnosis of trigonocephaly and polydactyly with two thumbs on the right hand was made by physical examination, X-ray of the right infant’s hand and computed tomography of the head. According to Oi and Matsumoto classification from 1986 [5], the infant had a severe form of trigonocephaly. Surgical procedure. Under general endotracheal anesthesia, the infant was placed supine on the operating table, a bifrontal skin incision was made and the scalp flap was created. The bifrontal craniotomy was realized into one bony piece succeeded by a modified Di Rocco’s "shell" procedure including frontal translation and transposition rotating the flap for 180 degrees without /touching the orbital rims. Results. The postoperative period was uneventful except for the expected forehead swelling. The infant was discharged from the hospital on the 7th postoperative day, neurologically intact. Three months after surgery, the head had excellent esthetic appearance, with regular psychomotor development in line with the age of the patient. Six months after the first surgery the patient underwent a second plastic and reconstructive surgery in order to reduce the number of fingers. Conclusion. The early recognition and multidisciplinary approach could prevent new disabled individuals in the society. Our technique shortens the entire surgical procedure, diminishes the time under anesthesia and its complications, especially in departments where blood saving devices are not available.


2021 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Brooke Mara

Abstract Case report - Introduction A case study of a teenage boy presenting with severe upper limb pain and recurring loss of upper limb function with no clear mechanism of injury. His progress in therapy was initially as expected; however, symptoms would recur despite consistency and compliance with treatment from the patient. This led to a referral for further investigations where a diagnosis of a rare inflammatory neurological condition was made. This case study is relevant for paediatric physiotherapists working in non-inflammatory, musculoskeletal and pain services as it highlights a lesser-known pathology that presents in a similar way to a more common condition. Case report - Case description M is a 13-year-old boy that presented with a 5-week history of stabbing pains followed by loss of motor function and sensation in his right arm after swinging a remote. A diagnosis of brachial nerve plexopathy had been suggested. M had been diagnosed with Hypermobile Ehlers-Danlos Syndrome (hEDS) but was otherwise fit and well with no significant birth, developmental or family history. He experienced similar episodes of loss of motor function throughout the entire right upper limb following an episode of acute pain aged 4 and aged 12. The episodes were presumed to be a brachial plexus injury following a shoulder subluxation; however, there was no real mechanism of injury to suggest this and symptoms self-resolved after several months in both instances. Age 8 he lost function and sensation in the left arm after a minor pulled elbow, he underwent elbow surgery at another centre to help restore the function of the left arm; however, function didn’t return for approximately 1 year. On examination he had diminished reflexes throughout the right upper limb and reduced sensation along a C3-8 & T1 distribution. He had a correctable thoracic spine kyphosis with significant medial boarder scapula winging on the right. His right shoulder sat lower than the left and he had muscle atrophy at right supraspinatus, infraspinatus, and serratus anterior and deltoid with tight pectoral muscles. He was compensating using upper trapezius to achieve 90—100 degrees of shoulder flexion and abduction with 2/5 muscle power. His elbow muscle strength was reduced to 4/5 in all movements on the right. He could only actively extend his right wrist to 30 degrees and only had flickers of active radial deviation. He lacked active finger extension in digits 2-5 and had 0/5 muscle activity at the right thumb. Case report - Discussion M underwent exercise therapy with a focus on regaining scapula control in lying and isometric rotator cuff strengthening as he had such significant wasting and was unable to control the upper limb in sitting. We also worked on improving his thoracic spine posture and on active assisted finger and wrist exercises to prevent contractures. I initially provided a sling to be worn at school and in busy environments to prevent any subluxations in view of his significant rotator cuff weakness and history of hEDS. The sling also served as a thoracic posture reminder for M. After just 2—3 weeks of input and initially making gains in strength and function, M had an episode of severe pain in the right shoulder followed by worsening motor and sensory symptoms. The recurrent nature of episodes and the weak mechanism of injury, led me to discuss M with a consultant. The consultant referred M to genetics where it was discovered he had idiopathic neuralgic amyotrophy (INA; also known as Parsonage—Turner Syndrome), a rare inflammatory neurological disorder. M had the classic signs and symptoms of INA but as he had presented to various different clinicians and centres with each episode a correlation wasn’t made until this latest presentation to pain clinic Case report - Key learning points The insubstantial mechanism of injury for his current presentation (motor loss from swinging a remote) led me to probe further into past episodes of his upper limb pain.  This information spurred me to research alternative causes of his symptoms and discuss the case with a consultant who made an onward referral. As physiotherapists we are highly likely to receive referrals for patients like M, with little more information than ‘shoulder pain’ or ‘brachial plexus injury’ given, which is why our subjective is such an important part of the overall assessment.  M’s case highlights how important collating an extensive medical history is to proper investigation and eventual diagnosis. M had a long history of upper limb events for which he had seen a variety of clinicians at various centres. Each event had been treated as an individual episode rather than one larger recurring pattern. Drawing that history together gave a more holistic picture which triggered the referral that identified a diagnosis 8 years after his first presentation to healthcare. M’s case also highlighted the importance of a good patient—therapist relationship. Motivating a patient with this type of condition is challenging; their progress is not linear and they often have to take steps backwards before they can progress again. This is exceptionally difficult for children and their parents, as it is a frustrating and repetitive cycle. They need to trust that you are giving them the correct therapy and as a therapist you need to trust that the patient is compliant with recommendations and exercise. Finally, the shoulder rehabilitation for M was, clinically speaking, the same as any other brachial plexus type injury. The main key difference was the need to intermittently take the exercises down a level in the incidence of a new episode of pain and motor loss.


2020 ◽  
Vol 06 (01) ◽  
pp. 20-21
Author(s):  
Diouf Cheikh ◽  
Ndoye Ndey Aby ◽  
Kane Ahmed ◽  
Seye Cheikh ◽  
Diallo Ibrahima ◽  
...  

2021 ◽  
Vol 11 (3) ◽  
Author(s):  
Atef Mohammad Khalil ◽  
Joseph Makram Botros ◽  
Maged Labib Boules ◽  
Atef Kamel Salama ◽  
Safaa Gaber Ragab

Introduction: Hyperhidrosis is the maladjustment of excess sweating in specific parts of the body. Radiofrequency (RF) therapy has been successfully used to treat hyperhidrosis with a success rate of 85% - 95% in patients refractory to sympathectomy. The main hypothesis was the association between reduced palmar hyperhidrosis and radiofrequency RF therapy. The RF therapy is a less invasive technique, including the utilization of electromagnetic energy that is deposited near the nerve tissue. The mechanism of action of continuous RF could be explained by the destruction of afferent nerve fibers on their way from a nociceptive focus to the central nervous system. Pulsed RF was invented to explore this possibility, with the sole purpose of finding a less destructive and equally effective technique for the application of RF to afferent pathways. Herein, we further evaluated whether the procedure was safe without any complications in routine follow-up in palmar hyperhidrosis. Case Presentation: Herein, we report the case of a male patient with an age of 22 years undergoing thermal RF sympathectomy therapy of thoracic T2 and T3 sympathetic ganglia for the palmar hyperhidrosis of his right hand observed for 3 months. The patient developed a contraction of the flexor involving the small muscles of the right hand with severe pain and congestion 17 days after the procedure without any other complications. The contraction was relieved by a sonar-guided median nerve block at the wrist with two injections of 2 mL lidocaine 2% and 2 mL dexamethasone. Conclusions: This study has been the first clinical case report complicated by the development of a contraction of the flexor muscles of the right hand with severe pain and congestion. The spasm was gradually relieved by sonar-guided median nerve injection at the level of the wrist and intended to assess the role of RF ablation with a success rate of 85% - 95% in palmar hyperhidrosis.


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