Hemiatrophy-hemiparkinsonism and Poland syndrome: A causative or coincidental association?

Despite various neurologic symptoms of Poland syndrome (PS), parkinsonism was never reported in PS, and the response to the treatment of parkinsonism was not studied before. We report a case of ipsilateral parkinsonism in PS, similar to hemiatrophy-hemiparkinsonism, with a good response to levodopa and subthalamic deep brain stimulation.

A rare coexistence: Poland's syndrome and cardiac angiosarcoma.

Poland's syndrome, a rare genetic disorder that accompanies malignancies, musculoskeletal disorders, cardiac and genitourinary syndromes. There is no study that represents the association between cardiac angiosarcoma and Poland's syndrome. A 24-year-old female patient previously diagnosed with Poland's syndrome was admitted to our hospital complaining of dyspnea. Diagnostic imaging showed an irregular mass in the right atrial cavity. After successful surgery, she was discharged uneventfully and the 3rd month oncologic follow-up reveals none of residual mass. The coexistence has not been diagnosed and treated in a cardiac surgery department before. With this presentation, we aimed to contribute to the literature with this presentation, for the right and early diagnosis and management of possible new cases in the future can be diagnosed and treated correctly and early.

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

BACKGROUND: Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome. CASE PRESENTATION: We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome. CONCLUSIONS: This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland's syndromes. LEVEL OF EVIDENCE: Level V, Descriptive Study.

Poland's syndrome concomitant with congenital proximal and distal radioulnar synostosis: A rare case report.

Radioulnar synostosis is a rare disease which causes supination and pronation restriction as a result of osseous or fibrous connections between the radius and ulna. Radioulnar synostosis includes both congenital and post-traumatic types. Post-traumatic radioulnar synostosis can be seen in the proximal, middle, and distal part of the forearm, depending on the location of the trauma. Congenital proximal radioulnar synostosis occurs as a result of a separation defect between the radius and ulna in the embryonic period. In the presence of congenital proximal radioulnar synostosis, the patient should be evaluated for accompanying syndromes and possible developmental anomalies. In this report, we present a rare case of both proximal and distal radioulnar synostosis. Hypoplasia of the right pectoral muscle mass, hypoplastic appearance of the right nipple, presence of proximal and distal radioulnar synostosis in the right forearm, and accompanying symbrachydactyly suggested Poland syndrome. To the best of our knowledge this is the first case of congenital proximal and distal radioulnar synostosis with Poland syndrome.

Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.

A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was reduced over the right chest. A clinical diagnosis of Poland's syndrome was made based on the hypoplasia of the right pectoral muscles, absent nipple, deformed ribs and symbrachydactyly of the ipsilateral hand. Chest X-ray suggested and ultrasound confirmed eventration of the right hemidiaphragm. 'Subclavian artery supply disruption sequence' (SASDS) theory by Bavnick and Weaver remains the most accepted pathogenic mechanism in Poland's syndrome. This case reinforces SASDS theory associated with the genesis of Poland's syndrome that relates to the pathogenicity of vascular disruption of subclavian artery, characteristics of which are unilateral pectoral defects, symbrachydactyly and eventration of the diaphragm. At 2 months, she underwent diaphragm plication. She is under review by our multidisciplinary surgical team for reconstruction of the chest deformity.

18F-FDG PET/CT in a Rare Case of Poland Syndrome and Gastric Cancer.

ABSTRACT: Poland syndrome is a rare congenital anomaly characterized by unilateral aplasia of the sternoclavicular head of pectoralis major muscle with varying degree of same side upper limb anomalies. A 44-year-old man, with a case of adenocarcinoma of stomach, whose CECT chest revealed complete absence of pectoralis major and minor muscles on the left side, was diagnosed with Poland syndrome without presence of typical ipsilateral limb anomalies. Follow-up PET/CT revealed metabolically active recurrent disease with typical findings of Poland syndrome. It is important to be aware of oncologic association in a patient of Poland syndrome as highlighted in the present case.

Rare concurrent ocular myasthenia gravis and Graves' ophthalmopathy in a man with Poland syndrome: a case report.

BACKGROUND: Ocular myasthenia gravis and Graves' ophthalmopathy are autoimmune diseases that are mediated by membrane receptors and share many identical clinical processes. Poland syndrome is a rare congenital deformity characterized by defects of the ipsilateral hand and the chest wall, and it is usually associated with hypoplasia of ipsilateral pectoral muscles and homolateral breast. However, to the best of our knowledge, the co-occurrence of these diseases has never been reported. In this study, we present a man with Poland syndrome who was diagnosed with Graves' ophthalmopathy and ocular myasthenia gravis in succession. CASE PRESENTATION: A 43-year-old man presented with bilateral upper eyelid ptosis, bilateral eye protrusion, bilateral eye movement disorder and malformation of the right hand. Asymmetrical malformation of the chest wall and ipsilateral hand deformity were shown as Poland syndrome. He was diagnosed with ocular myasthenia gravis and Graves' ophthalmopathy on the basis of clinical manifestations and laboratory examinations, including bilateral exophthalmos and progressive asymmetrical ophthalmoparesis without pupillary dysfunction, positive autoantibody tests, repetitive nerve stimulation tests, and computed tomography scans. Treatments with pyridostigmine bromide, thymectomy, and prednisone led to partial clinical improvement. After 13 months of follow-up, the symptoms of drooping eyelids were partially improved, but the eyeball protrusion and right hand deformity remained unchanged. CONCLUSIONS: We report the first case of co-occurrence of ocular myasthenia gravis, Graves' ophthalmopathy, and Poland syndrome. Genetic predisposition and immune dysregulation might be the pathogenesis of the association.

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication.

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

Clinical characteristics of Poland's syndrome associated with breast cancer: Two case reports and a literature review.

Poland's syndrome is a rare congenital malformation that is characterized by a congenital defect of the pectoralis major. It is associated with various ipsilateral upper extremity anomalies and homolateral breast hypoplasia. There have been reports of Poland's syndrome being associated with different malignancies. Here, we report two cases of Poland's syndrome associated with breast cancer (BC) and review the literature. To date, 21 cases (including our two cases) of Poland's syndrome associated with BC have been reported. The clinical characteristics of the disease are analyzed in this report.

Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum.

Poland Syndrome is a rare disease with an incidence of 1 in 30,000. This disease is characterized by agenesis of the pectoralis major, hypoplasia of mammarian tissue and the nipple complex, and limb abnormalities. The severe form of this disease can be associated with rib and sternal malformations like pectus excavatum. A 19-year-old man with severe Poland syndrome with cardiac extrasystoles and restrictive ventilation as shown by a spirometry test is presented. A total sternal reconstruction with partial osteotomies and bilateral resection of cartilage was performed. The sternum was stabilized with underlying titanium bars and clips. The cosmetic result was satisfactory.

Mobius Syndrome: A 35-Year Single Institution Experience.

BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015. Records and radiographs were reviewed for associated orthopaedic conditions and their management. RESULTS: In total, 44 patients with Mobius syndrome were identified. Age at presentation ranged from 6 days to 14 years. When compared with the general population, patients with Mobius syndrome had an increased incidence of clubfoot (41%), Poland syndrome (20%), and scoliosis (14%). Clubfoot treated both before and after the institution of Ponseti casting had a high rate of requiring posteromedial release, with a significant rate of subsequent revision. Hip dysplasia was noted in 1 patient and required surgical correction. Other associated syndromes included arthrogryposis, Pierre Robin syndrome, and chromosome 10 defect. CONCLUSIONS: Mobius syndrome is accompanied by an increased rate of several orthopaedic problems; most notably clubfoot, scoliosis, and upper extremity differences that often require surgical treatment. The management of clubfoot in the setting of Mobius syndrome often requires surgical intervention due to failure of casting, and seems to have a higher rate of need for revision. Early involvement of orthopaedists in the care of patients with Mobius syndrome is often necessary. Orthopaedist should counsel families that treatment may be more complex than that of idiopathic disease. LEVEL OF EVIDENCE: Level IV-case series.

Anestesia general en paciente con síndrome de Poland / General anesthesia in patients with syndrome of Poland

El aumento del uso de la cirugía, como tratamiento o como alternativa de mejora, hace que nos encontremos en quirófano con un mayor número de pacientes, entre ellos los que adolecen de enfermedades poco comunes. El síndrome de Poland es una enfermedad congénita rara, relacionada con el desarrollo muscular. Estos pacientes pueden presentar un amplio espectro de anomalías, entre las que destacan: anomalías a nivel torácico, que pueden alterar el manejo ventilatorio, a nivel de la vía aérea; la posible aparición de una hipertermia maligna. Esto lleva al anestesiólogo a tomar ciertas medidas preventivas. Narramos el caso de una paciente con síndrome de Poland que se intervenía para colocación de una prótesis mamaria, en el que evitamos los halogenados, y llevamos a cabo una anestesia total intravenosa con propofol. La aparición de espasmos musculares consecuencia del uso del propofol obligó en una segunda anestesia a llevar a cabo una anestesia total intravenosa con midazolam (AU)

The increased use of surgery as a treatment or as an alternative for improvement means that we have a larger number of patients in the operating theatre, including those who suffer from rare diseases. Poland Syndrome is a rare congenital disease associated with muscle development. These patients may have a broad spectrum of abnormalities, which include thoracic anomalies, which can alter the ventilatory management at the level of the airway; the possible onset of malignant hyperthermia. This leads the anaesthetist to take certain preventive measures. We report the case of a patient with Poland syndrome operated for the placement of a breast prosthesis. We avoid halogenated agents, and use a Total Intravenous Anaesthesia with propofol. The appearance of muscle spasms as a result of the use of propofol, forced us into a second anaesthesia to perform total intravenous anaesthesia with Midazolam (AU)

[A neonate with unilateral paradoxical breathing]. / Een neonaat met unilateraal een paradoxale ademhaling.

A 1-day-old male neonate presented with asymmetric thoracic excursions without respiratory distress. He was diagnosed with the Poland syndrome. The Poland syndrome is characterized by an unilateral hypoplastic or absent pectoral muscle. Reconstruction may be considered in case of complex deformities, but patients with the Poland syndrome generally have minor functional impairments.