scholarly journals Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

1970 ◽  
Vol 32 (2) ◽  
pp. 60-62
Author(s):  
B Ghimire ◽  
B Thapa ◽  
UK Shrestha ◽  
P Sayami
Keyword(s):  
World Literature ◽  
Left Lung ◽  
Facial Asymmetry ◽  
Goldenhar Syndrome ◽  
Variable Degree ◽  
Institute Of Medicine ◽  
Facial Deformity ◽  
Appropriate Treatment ◽  
Mediastinal Shift ◽  
External Anomaly

An eleven years female presented with recurrent chest infection since childhood with markedly diminished air entry on her right chest and mediastinal shift. She also had vague facial deformity with multiple auricular appendages. Computed tomography showed collapse of the left lung and on thoracotomy, complete agenesis of the left lung was noted. Goldenhar anomaly is rare and presents with variable degree of external anomaly. Its association with bronchopulmonary agenesis is extremely rare with few cases reported in the world literature. Features of other congenital should be sought for in a child with facial asymmetry, external auditory appendages, malformation of the, nose, soft palate, lip and mandible etc so that appropriate treatment can be administered. DOI: http://dx.doi.org/10.3126/joim.v32i2.4950 Journal of Institute of Medicine, August, 2010; 32: 60-62

scholarly journals RARE CARDIO-RESPIRATORY FINDINGS IN GOLDENHAR SYNDROME (case report)

2017 ◽  
Vol 4 (4) ◽  
pp. 188-193
Author(s):  
M. Gonchar ◽  
O. Pomazunovska ◽  
O. Logvinova ◽  
A. Kosenko
Keyword(s):  
Left Lung ◽  
Lower Lobe ◽  
Facial Asymmetry ◽  
Branchial Arch ◽  
Speech Disorders ◽  
Severe Form ◽  
Psychomotor Development ◽  
Goldenhar Syndrome ◽  
Intermediate Form ◽  
Facial Skeleton

The Goldenhar Syndrome is the rare congenital abnormalities that include Facio-Auriculo-Vertebral Spectrum, First and Second Branchial Arch Syndrome, Oculo-Auriculo-Vertebral Spectrum, oculo-auriculo-vertebral disorder. Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microstomia appears to be an intermediate form. Goldenhar Syndrome includes patients with facial asymmetry to very severe facial defects (resulting from unilateral facial skeleton hypoplasia) with abnormalities of skeleton and/or internal organs. The most significant are epibulbar dermoids, dacryocystitis, auricular abnormalities, preauricular appendages, preauricular fistulas and hypoplasia of the malar bones, mandible, maxilla and zygomatic arch. Some patients are found to have oculo-auriculo-vertebral disorder, namely low height, delayed psychomotor development, retardation (more frequently seen with cerebral developmental anomalies and microphthalmia), speech disorders (articulation disorders, rhinolalia, different voice disorders, unusual timbre), psycho-social problems, autistic behaviors. The authors describe the clinical case of Goldenhar Syndrome in boy a 3-months-year-old.  This case demonstrates a rarely described association of oculo-auriculo-vertebral disorders, malformation of respiratory system (hypoplasia of the lower lobe of the left lung with relaxation of the left cupula of the diaphragm), heart abnormality (atrium septa defect).Key words: Goldenhar Syndrome, children, diagnostic РІДКІСНІ КАРДІОРЕСПІРАТОРНІ ЗНАХІДКИ ПРИ СИНДРОМІ ГОЛДЕНХАРА.Гончар М.О., Помазуновська О.П., Логвінова О.Л., Тригуб Ю.В., Косенко А.М.Синдром Гольденхара є рідкісною вродженою аномалією, яка включає перший і другий синдром Бінья, окуло-аурикуло-вертебральний спектр, окуло-аурикуло-хребетний синдром. Окуло-аурикула-хребетний синдром є самою м'якою формою розладу, тоді як синдром Гольденхара часто протікає важко. Хеміфаціальная мікростомія - проміжна форма. Синдром Гольденхара включає як пацієнтів з лицьової асиметрією так і з дуже важкими дефектами лицьового черепа (в результаті односторонньої гіпоплазії лицьового скелета) з відхиленнями в будові скелета і / або внутрішніх органів. Найбільш значущими є епібульбарной дермоіди, дакріоцистит, аурікулярні аномалії, предорікулярні придатки, предорікулярні фістули, гіпоплазію нижньої щелепи, верхньої щелепи і щелепної дуги. У деяких пацієнтів виявляється окуло-аурикуло-хребетний синдром, а саме низькорослість, уповільнене психомоторне розвиток, аномалії розвитку мозку і мікрофтальмії, розлад мови, порушення артикуляції, алалия, різні порушення мови, незвичайний тембр голосу і психосоціальні порушення, аутизм. Автори описують клінічний випадок синдрому Гольденхара у хлопчика 3-місячного віку. Цей випадок демонструє асоціацію окуло-аурикула-хребетних розладів які рідко зустрічаються в практиці, мальформацию дихальної системи (гіпоплазію нижньої частки лівої легені з релаксацією лівого купола діафрагми), аномалію серця (дефект міжпредсердної перегородки).Ключові слова: синдром Гольденхара, діти, діагностика РЕДКИЕ КАРДИОРЕСПИРАТОРНЫЕ НАХОДКИ ПРИ СИНДРОМЕ ГОЛДЕНХАРА.Гончарь М.А., Помазуновская Е.П., Логвинова О.Л., Тригуб Ю.В., Косенко А.М.Синдром Голденхара представляет собой редкие врожденные аномалии, которые включают первый и второй синдром Биньяла, окуло-аурикуло-вертебральный спектр, окуло-аурикуло-позвоночный синдром. Окуло-аурикуло-позвоночный синдром (OAVD) представляет собой самую мягкую форму расстройства, тогда как синдром Голденхара часто протекает тяжело. Хемифациальная микростомия представляется промежуточной формой. Синдром Голденхара включает как пациентов с лицевой асимметрией так и с очень тяжелыми дефектами лицевого черепа (в результате односторонней гипоплазии лицевого скелета) с отклонениями в строении скелета и / или внутренних органов. Наиболее значимыми являются эпибульбарные дермоиды, дакриоцистит, аурикулярные аномалии, предорикулярные придатки, предорикулярные фистулы, гипоплазия скуловых костей, нижней челюсти, верхней челюсти и скуловой дуги. У некоторых пациентов выявляется окуло-аурикуло-позвоночный синдром, а именно низкорослость, замедленное психомоторное развитие, аномалии развития мозга и микрофтальмии, расстройство речи, нарушения артикуляции, ринолалия, различные нарушения речи, необычный тембр голоса и психосоциальные нарушения, аутизм. Авторы описывают клинический случай синдрома Голденхара у мальчика 3-месячного возраста. Этот случай демонстрирует редко встречаемую ассоциацию окуло-аурикуло-позвоночных расстройств, мальформацию дыхательной системы (гипоплазию нижней доли левого легкого с релаксацией левого купола диафрагмы), аномалию сердца (дефект перегородки атриума).Ключевые слова: синдром Голденхара, дети, диагностика

scholarly journals Late presentation of unilateral lung agenesis in adulthood

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Arshed Hussain Parry ◽  
Mujahed Abdulsattar Ibrahim Raheem ◽  
Hussam Hassan Ismail ◽  
Osama Sharaf
Keyword(s):  
Main Bronchus ◽  
Left Lung ◽  
Left Hemithorax ◽  
Late Adulthood ◽  
Pulmonary Agenesis ◽  
Opaque Hemithorax ◽  
Dismal Prognosis ◽  
Mediastinal Shift ◽  
Lung Agenesis ◽  
Unilateral Pulmonary Agenesis

Abstract Background Pulmonary agenesis is a rare congenital anomaly with a reported prevalence of about 1 in 100,000 births. It may be bilateral or unilateral. Among the unilateral form, left lung agenesis is more common (70%); however, it is the right lung agenesis which carries a dismal prognosis due to the frequent association with a gamut of other congenital anomalies and greater degree of mediastinal shift leading to tracheo-bronchial and vascular distortion. The patients of unilateral pulmonary agenesis usually present in infancy or early childhood. Presentation in late adulthood as seen in our patient is rare. We present a case of left pulmonary agenesis that was diagnosed in 4th decade of life. Case presentation A 36-year-old male presented with gradually progressive exertional dyspnea of 1 month duration. Clinical examination revealed tachycardia and tachypnea. Chest radiograph showed opaque left hemithorax with ipsilateral mediastinal shift. Computed tomography clinched the diagnosis by demonstrating absence of left main bronchus, lung and left pulmonary artery with shift of heart, and great mediastinal vessels into left hemithorax. The patient was managed conservatively and discharged with attachment to out-patient department for regular follow-up. Conclusion Presentation of unilateral lung agenesis in late adulthood, as seen in the present case is extremely rare. This case report highlights that, a rare condition like unilateral pulmonary agenesis, should be considered in the list of differentials in an adult presenting with opaque hemithorax with ipsilateral mediastinal shift on radiography.

Mental disorders that occur against the background of water-electrolyte disorders in patients with neoplasms of chiasmal-sellar region

2020 ◽  
pp. 38-56
Author(s):  
K. V. Koval ◽  
G. E. Chmutin ◽  
P. L. Kalinin ◽  
M. A. Kutin ◽  
V. V. Ivanov
Keyword(s):  
Mental Disorders ◽  
Postoperative Period ◽  
World Literature ◽  
Sellar Region ◽  
Electrolyte Disorders ◽  
Appropriate Treatment ◽  
Specific Category ◽  
Neurosurgical Patients ◽  
Before And After ◽  
Shed Light

The work is devoted to assessing the results of the analysis of world literature for a period of more than 50 years: it reflects the data on the nature of the occurrence of mental disorders developing in patients with tumors of the chiasmal-sellar region against the background of water-electrolyte disorders both before and after surgery. The presented data shed light on the occurrence of the variants of mental disorders in such a specific category of neurosurgical patients, which may allow the clinician to timely determine the appropriate treatment tactics and reduce the severity of complications in the postoperative period.

scholarly journals Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Nagendra Chaudhary ◽  
Sandeep Shrestha ◽  
Hemant Kumar Halwai
Keyword(s):  
Genetic Association ◽  
Pulmonary Hypoplasia ◽  
Facial Asymmetry ◽  
Rare Condition ◽  
Female Child ◽  
Goldenhar Syndrome ◽  
Rare Association ◽  
Unusual Association ◽  
Branchial Arches ◽  
Characteristic Features

Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association.

scholarly journals Fatal congenital lobar emphysema in a puerpera: a case report and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Fanyi Gan ◽  
Liang Xia ◽  
Yushang Yang ◽  
Qiang Pu ◽  
Lunxu Liu
Keyword(s):  
Left Lung ◽  
Middle Lobe ◽  
Left Hemithorax ◽  
Recurrent Pneumonia ◽  
Mediastinal Shift ◽  
Life Threatening ◽  
Right Middle Lobe ◽  
Lobar Emphysema ◽  
The Right

Abstract Background Congenital lobal emphysema (CLE) is a developmental lung abnormality usually diagnosed in the neonatal period and is rarely observed in adults. Adults with CLE are usually asymptomatic and only a small fraction may present with coughing, recurrent pneumonia and respiratory distress. In imaging studies, the most frequently affected lobe of CLE is the left upper lobe, followed by the right middle lobe. However, multilobar involvement with severe mediastinal shift is extremely rare. Case presentation We report a case of fatal CLE in a 28-year-old puerpera with postpartum respiratory failure. Chest computed tomography (CT) revealed emphysema of the right upper, middle and lower lobes resulting in adjacent atelectasis. Hyperinflation of the right upper lobe crossed the midline, leading to a deviation of the mediastinal structure to the left hemithorax and severe compression of the left lung. Conclusions Early and timely diagnosis of CLE with routine follow-up is necessary for patients. CLE, especially with multilobar involvement or mediastinal shift, could be life-threatening and should be promptly and aggressively treated to prevent severe complications.

scholarly journals Hydrops fetalis secondary to supradiaphragmatic extrapulmonary sequestration with congenital cystic adenomatoid malformation

2017 ◽  
Vol 7 (1) ◽  
pp. 1130-1132 ◽  
Author(s):  
S Shukla ◽  
H Kini ◽  
ML Ilias ◽  
K Gautam
Keyword(s):  
Left Lung ◽  
Breech Presentation ◽  
Hydrops Fetalis ◽  
Congenital Cystic Adenomatoid Malformation ◽  
Associated Anomalies ◽  
Male Baby ◽  
Pain Abdomen ◽  
Cystic Adenomatoid Malformation ◽  
Mediastinal Shift ◽  
Fetal Movements

Congenital cystic adenomatoid malformation is a hamartomatous lesion. A 30 year old woman, G2P1L1, in the 29th week of gestation presented with pain abdomen, chest pain, cough with expectoration, fever and inability to appreciate fetal movements of 2 days duration. Clinically, she had pneumonia. An ultrasound revealed a single fetus in breech presentation with features of hydrops fetalis, hypoplastic left lung, mediastinal shift to the left and poor diastolic and systolic flow in the umbilical artery.A still born male baby delivered subsequently was found at autopsy to have hydrops fetalis, supradiaphragmatic right sided extralobar sequestration with associated congenital cystic adenomatoid malformation.The right lung also showed congenital cystic adenomatoid malformation. There were no other associated anomalies. We present a rare case of extralobar sequestrationwith congenital cystic adenomatoid malformation.

Corneal Endothelial Decompensation after Ocular Chemical Burn: Description of a New Finding

2019 ◽  
Vol 236 (04) ◽  
pp. 371-376
Author(s):  
Alexandra Steinemann ◽  
Frank Blaser ◽  
Eitan Livny ◽  
Philipp Baenninger ◽  
Marvin Marti ◽  
...  
Keyword(s):  
Rare Complication ◽  
Variable Degree ◽  
Chemical Burn ◽  
Chemical Burns ◽  
Corneal Epithelial ◽  
Corneal Erosion ◽  
Appropriate Treatment ◽  
Chemical Injuries ◽  
New Finding ◽  
Endothelial Decompensation

Abstract Background Ocular chemical burn is an ophthalmological emergency. Therefore, chemical injuries should be promptly addressed in order to initiate the appropriate treatment as soon as possible and optimize the visual prognosis. We present a retrospective study of ten cases with ocular chemical burn including one with superglue and one with a liquid plaster material injury and describe their clinical course. History and Signs Ten adult patients (34 – 92 years, 8 males) presented with moderate to severe alkali or neutral chemical burns in our emergency clinics. They exhibited a variable degree of conjunctival injection, limbal ischemia, corneal erosion, and Descemetʼs folds. Therapy and Outcome Patients were treated and complete corneal epithelial closure was achieved in all cases without significant signs of limbal stem cell insufficiency. Corneal endothelial insufficiency was observed in all cases. Nine patients had to be listed for corneal endothelial keratoplasty and one was treated with Descemetʼs stripping endothelial automated keratoplasty. Conclusions Isolated corneal endothelial decompensation after chemical burns has not yet been described. The pathophysiological explanation of this observation remains, however, unknown. In view of this rare complication, it is important to follow patients after chemical ocular burn for possible development of endothelial decompensation.

scholarly journals Dyke-Davidoff-Masson Syndrome as a rare congenital hemiatrophy: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Azubuike Benjamin Nwako ◽  
Charles Emeka Nwolisa ◽  
Okechukwu Francis Nwako ◽  
Magaret-Lorritta Chidimma Nwako
Keyword(s):  
Facial Asymmetry ◽  
Rare Condition ◽  
Lower Limbs ◽  
Sub Saharan Africa ◽  
Ventricular Dilatation ◽  
Cerebral Hemiatrophy ◽  
Appropriate Treatment ◽  
Left Limb ◽  
Sub Saharan ◽  
The Right

Introduction: Dyke-Davidoff-Masson syndrome (DDMS) is a rare condition in childhood with very few cases reported in sub-Saharan Africa. Typically, the patient presents with facial asymmetry, seizures, and hemiparesis. Radiological findings include cerebral hemiatrophy, ipsilateral lateral ventricular dilatation, and hypertrophy of the calvarium and sinuses. Case presentation: We present the report of a 3-year-old male with weakness of right upper and lower limbs, facial asymmetry, and seizures. Physical examination showed a well-nourished child with a squint of the right eye. There were brisk tendon reflexes with right-sided hemiplegia which is spastic with left limb preference. Computer tomography of the brain showed atrophy of the left cerebral hemisphere, ipsilateral lateral ventricular dilatation, and thickening of the ipsilateral cranium. The diagnosis of Dyke-Davidoff-Masson syndrome was made. He was treated with sodium valproate and lamotrigine and presently physiotherapy and he had remained seizure-free. Conclusion: Dyke-Davidoff-Masson syndrome still affects children despite being a rare condition. There is a need for appropriate clinical and radiological assessment for the diagnosis of DDMS. Early identification and appropriate treatment will improve the general outcome of children with DDMS.

scholarly journals Combating Airway Issues with Elective Use of an I Gel in a Child with Goldenhar Syndrome

2021 ◽  
Vol 7 (3) ◽  
Author(s):  
Shilpi Sethi ◽  
Manish Sethi
Keyword(s):  
Case Report ◽  
Airway Management ◽  
Difficult Airway ◽  
Facial Asymmetry ◽  
Preoperative Assessment ◽  
Goldenhar Syndrome ◽  
Surgical Removal ◽  
Hemifacial Microsomia ◽  
Oculoauriculovertebral Spectrum ◽  
Limbal Dermoid

Introduction: Goldenhar syndrome is an oculoauriculovertebral spectrum attributed to the developmental anomalies of the first and second brachial arches. Its typical presentation in children with hemifacial microsomia poses a dual challenge for the anaesthesiologist on account of difficult airway often compounded with systemic abnormalities. Case report: We describe a case report wherein a 5 year female presented to the oculoplastic clinic of our hospital for surgical removal of limbal dermoid under general anaesthesia. Airway examination revealed classical facial asymmetry with underdevelopment of jaw bone coupled with protruding incisors. A predicted difficult airway, more so in a child led us to choose an anaesthesia technique with preservation of spontaneous breathing and planned use of supraglottic device in the form of an I Gel for airway management. Conclusion: The aim of this case report is to highlight the anaesthetic implications of this not so uncommon entity presenting to ophthalmology and ENT clinics. A thorough preoperative assessment, adequate preparedness and alternative plans are keys for successful airway management in such syndromic children. Keywords: Goldenhar syndrome, hemifacial microsomia, I Gel

scholarly journals Hydatid cyst of the lung in pregnancy: A rare case presentation

2020 ◽  
Vol 3 (1) ◽  
pp. 1-3
Author(s):  
Ahmad Shirinzadeh ◽  
◽  
Amene Hadadan ◽  
Sedighe Vaziribozorg ◽  
◽  
...  
Keyword(s):  
Hydatid Cyst ◽  
Left Lung ◽  
Cystic Mass ◽  
Suspected Pulmonary Embolism ◽  
Left Hemithorax ◽  
Case Presentation ◽  
X Ray ◽  
Appropriate Treatment ◽  
Chest X Ray ◽  
In Pregnancy

Hydatid cyst of the lung has been seen in 30% of the cases of hydatidosis in some series. In our case presentation, a 29-year old female, gravida 1, referred to the hospital with acute and severe pain in the lower left hemithorax, while she was in the 26th week of pregnancy. The pain was pleuritic and was accompanied with tachypnea. The patient was hospitalized with suspected pulmonary embolism. The chest X-ray and computed tomography showed a cystic mass in the lower left lung. After a diagnosis of hydatid cyst, the patient underwent surgery and all of her symptoms were resolved. As Albendazole is a medication from pregnancy category C, and since in our case, the patient underwent surgery and all of her symptoms were resolved, we can conclude that surgery is a safe and appropriate treatment for Hydatid cyst of the lung in pregnancy.

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