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

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

2021 ◽  
Vol 9 (4) ◽  
pp. 15-22
Author(s):  
V.I. Trykhlib ◽  
K.P. Bieliaieva ◽  
N.R. Tsyurak ◽  
L.O. Palatna

Literature and personal data on community-acquired pneumonia during the epidemic of a new coronavirus infection COVID-19 are presented. It was found that men and patients with moderately to severe form were treated for community-acquired pneumonia more often. The most common localizations were as follows (in descending frequency): bilateral multisegmental, right-sided lower lobe, left-sided lower lobe. Men as compared to women more often had the following localization of pneumonia: right-sided lower lobe pneumonia at the age of 20–30, 51–60; right-sided multisegmental in all age groups; left-sided lower lobe pneumonia at the age of 51–60, left-sided upper lobe pneumonia at the age of 20–50; left-sided multisegmental pneumonia in all age groups; slightly more frequent bilateral lower lobe pneumonia in different age groups; bilateral multisegmental pneumonia at the age of 20–30 and over 60. Conversely, the most common localization in women was as follows: right-sided lower lobe pneumonia at the age 31–50, right-sided upper lobe pneumonia at the age 20–30, left-sided lower lobe pneumonia at the age 20–50 and over 60, left-sided upper lobe pneumonia at the age over 60, bilateral lower lobe pneumonia at the age 31–40, bilateral multisegmental pneumonia at the age 41–60. Right-sided lower lobe pneumonia was equally often registered irrespective of gender in persons older than 60 years old. Right-sided upper lobe pneumonia was not registered in patients aged 31–40 and 41–50 years, and over 60 years old. The most frequent localization of pneumonia in mild form was left-sided lower lobe (35.3 %), right-si­ded lower lobe (20.6 %), and bilateral lower lobe (14.7 %). The least frequent were upper lobe localization of pneumonia in the right, left, and both lungs (2.94 % each), and left multisegmental pneumonia was not observed at all. The most frequent localization of pneumonia in the moderate form was the lower lobes of the right lung (29.4 %), left lung (18.3 %), and multisegmental in both lungs (28.8 %). It was least frequently registered in the upper lobe of the right lung (2.6 %), left lung (3.9 %) but was not registered in the upper lobes of both lungs. The most frequent localization of pneumonia in severe form was bilateral multisegmental (37.5 %). Right-sided multisegmental, left-sided lower lung and bilateral lower lung were the least common — 12.5 % for each. Subfebrile fever was registered more frequently in almost all localizations. More often normal or subfebrile temperature was registered in all localizations, except for right-sided upper lobe pneumonia, in which higher (febrile, pyretic) temperature was registered more often. In all localizations within three days after hospitalization most patients had normal leukocyte count, leukopenia was slightly more frequent in left-sided lower lobe pneumonia, leukocytosis — in the bilateral upper lobe, bilateral lower lobe, and right-sided upper lobe. In general, leukocytosis in community-acquired pneumonia was registered in 38.8 % of patients. In the first three days after hospitalization, a normal amount of lymphocytes was registered in the majority of patients, lymphopenia was observed in one-third of patients with right-sided upper and left-sided lower lobe localization.


1970 ◽  
Vol 32 (2) ◽  
pp. 60-62
Author(s):  
B Ghimire ◽  
B Thapa ◽  
UK Shrestha ◽  
P Sayami

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


2020 ◽  
Vol 2 ◽  
pp. 144-148
Author(s):  
Supraja Laguduva Mohan ◽  
Sunitha Vellathussery Chakkalakkoombil ◽  
Sathwik Deekonda ◽  
Devi Prasad Mohapatra

Goldenhar syndrome (GS) is the most severe form of the oculoauriculovertebral spectrum, a developmental disorder primarily involving the structures derived from the first and second branchial arches, intervening first pharyngeal pouch and branchial cleft characterized by microtia, facial asymmetry, ocular abnormalities, and abnormalities of the vertebral column. A multifactorial etiology involving genetic and environmental factors has been proposed and the majority of the cases are sporadic in occurrence. The clinical phenotype of GS is highly variable and multiple associated anomalies of various organ systems have been reported in the literature. The term “Expanded Goldenhar Complex” has been used when there are associated unusual extrafacial abnormalities involving major organ systems such as the central nervous system, cardiovascular system, and respiratory system. We report a case of Expanded Goldenhar Complex with multiple anomalies, some of which are very rarely reported associations. A 5-year-old boy presented with right-sided hemifacial microsomia, microtia, preauricular and malar skin tags, bilateral radial club hands, and scoliosis since birth. Imaging revealed additional abnormalities including aural atresia, unilateral pulmonary agenesis, dextrocardia, vertebral segmentation defects, left renal ectopia, and right undescended testis. Surgical corrections were undertaken for the right radial club hand and undescended testis and he is awaiting surgery for the left club hand. Complete imaging evaluation of children with dysmorphic facies and limb abnormalities helps in identifying the various associated organ anomalies and to arrive at an accurate syndromic diagnosis. These patients have to be managed by a multidisciplinary team of clinicians on a case-to-case basis and have a good prognosis if there are no major cardiac defects or intellectual disability.


2020 ◽  
Vol 2020 (6) ◽  
Author(s):  
Kit-fai Lee ◽  
Randolph H L Wong ◽  
Howard H W Leung ◽  
Eugene Y J Lo ◽  
Charing C N Chong ◽  
...  

Abstract A 56-year-old man presented with an 11-cm hepatocellular carcinoma (HCC) at segment 7 of liver. To induce left liver hypertrophy, a sequential transarterial chemoembolization (TACE) and portal vein embolization before right hepatectomy were adopted. However, the tumor further increased in size despite TACE and invaded through the diaphragm to the right lung base. Anterior approach right hepatectomy with en bloc wedge resection of the involved right lower lobe of lung by endovascular staplers via transdiaphragmatic approach was performed. The diaphragmatic defect was closed with Goretex mesh. Patient made an uneventful recovery. Pathology confirmed a 12.5 cm poorly differentiated HCC invading through diaphragm to lung. During follow-up, patient developed a 6 cm recurrence at left lung base 17 months after surgery for which he received sorafenib therapy. However, the lung mass further increased in size with new liver recurrence at segment 3 despite treatment. He succumbed 2 years and 3 months after surgery.


2021 ◽  
pp. 106689692110022
Author(s):  
Jenny L. Weon ◽  
Stephen Megison ◽  
Charles F. Timmons ◽  
Dinesh Rakheja

We describe a previously unreported bronchopulmonary foregut malformation wherein a segment of a bronchus of the lower lobe of the left lung in a 4-year-old girl was entirely esophageal in structure. No communication was identified between the tracheobronchial tree and the esophagus by radiologic examination or at surgery. The esophagus-like bronchus was associated with an adjacent atretic bronchus and a downstream cavity in the lower lobe of the left lung. The child sought clinical attention because of recurrent pulmonary infections localized to the lower lobe of the lung. We posit that this esophagus-like bronchus is a novel noncommunicating bronchopulmonary foregut malformation.


2021 ◽  
pp. 021849232199708
Author(s):  
Nandkishore Kapadia ◽  
Saumya Sekhar Jenasamant ◽  
Ganesh Sohan Singh Rawat ◽  
Shailesh Kamkhedkar ◽  
Pratik Shah ◽  
...  

Background Chylothorax is a rare form of pleural effusion that can be associated with both traumatic and non-traumatic causes. Very few patients respond to conservative line of therapy. Thoracic duct ligation is often the treatment of choice in post-surgical patients; however, the optimal treatment of this disease process after traumatic injury remains unclear. Case presentation: We present the case of a 46-year-old woman with thoracic duct injury secondary to decortication for post-pneumonic empyema. Conservative therapy and pleurodesis done twice failed. She developed severe cachexia losing 15 kg in 30 days. She was referred to our center for ligation of thoracic duct. Preoperative lymphangiography located the duct injury in upper part of mediastinum. Computerized tomography scan of chest showed collapse of left lower lobe and thickened left pleura, indicating a significant pericardial effusion. She underwent decortication of left lung, pericardial window, and native pericardial patch repair of thoracic duct. Results and Conclusions: In this unusual and complex case, successful resolution of the chyle leak was achieved with new surgical technique of patch repair. The patient recovered well and was now on a normal diet. She has put on 12 kg in four months. We have avoided late complications of thoracic duct ligation by this technique. This nouvelle technique may be recommended as it is simple and effective. Ligation of thoracic duct carries late complications. Isolating right lung by double lumen tube may cause severe hypoxia as left-sided lung is not expanded as in this case.


PEDIATRICS ◽  
1958 ◽  
Vol 22 (5) ◽  
pp. 910-922
Author(s):  
Marion E. Erlandson ◽  
Irving Schulman ◽  
Gertrude Stern ◽  
Carl H. Smith

Rates of destruction of erythrocytes and of effective production of erythrocytes and hemoglobin have been determined in 10 patients with homozygous Cooley's anemia. The method employed was based upon survival of Cr51-labeled cells in patients in whom a state of equilibrium of erythrocytes was present. While a marked hemohytic defect is present, this defect does not, by itself, determine the degree of anemia present. Rates of effective production of erythrocytes are increased above normal but are not increased to the same degree found in patients with other hemolytic diseases. Rates of effective synthesis of hemoglobin were found to be less than those obtained for production of erythrocytes. The rates of production of fetal hemoglobin in these patients are remarkably elevated but cannot be directly correlated with the rate of destruction of erythrocytes, rate of production of erythrocytes, or the degree of anemia present. The hemolytic defect in patients with intermediate Cooley's anemia was comparable to that in the majority of the patients with the severe form of disease. However, the most marked hemolytic defects were among patients with the severe and not with the intermediate form of disease. Production of erythrocytes and hemoglobin did not differ significantly in the two forms of this disease. Results in two splenectomized patients did not differ significantly from results in the non-splenectomized group of patients. However, since pre-splenectomy data were not available, no statement may be made as to possible individual benefit derived from the operation. The final status of each patient is determined by the particular balance obtained between rates of destruction and production. Neither production nor destruction alone determines the degree of anemia. The compensation index, as a measure of final status in each patient, was lowest in the severe form of Cooley's anemia. It is presumed to be lower still in many patients who could not be studied because transfusion therapy was in progress. The compensation index is somewhat higher in patients with intermediate Cooley's anemia and in two splenectomized individuals not requiring frequent transfusions. Values in these patients approach the higher levels found in patients with sickle cell anemia and congenital spherocytosis.


1990 ◽  
Vol 36 (6) ◽  
pp. 1506-1518
Author(s):  
Nagahisa FUJIMURA ◽  
Yasuhiro OKADA ◽  
Jangwoo CHOI ◽  
Masazumi MIYAZAWA ◽  
Hideaki NAGURA ◽  
...  

2004 ◽  
Vol 2 (3) ◽  
pp. 0-0
Author(s):  
Aba Vitėnas

Aba VitėnasVšĮ Vilniaus universiteto ligoninės "Santariškių klinikos"Centro filialas, Radiologijos skyrius,Žygimantų g. 3, LT–01102, VilniusEl. paštas [email protected] Įvadas / tikslas Plaučių disontogeniniai navikai – hamartomos – yra dažniausi iš visų periferinių nepiktybinių rutulinių plaučių darinių. Endobronchinė centrinė hamartoma (epistoma) pasitaiko labai retai. Kremzlinės struktūros plaučių hamartomos – chondrohamartomos ir osteochondrohamartomos – yra dažniausios. Darbo tikslas – apibūdinti plaučių hamartomas, sukonkretinti jų rentgenologinius diferencinės diagnostikos žymenis ir tuo remiantis – klasifikaciją. Ligoniai ir metodai Plaučių hamartomos buvo nustatytos 43 ligoniams – 16–78 metų 28 vyrams ir 15 moterų. Visiems ligoniams atliktas kompleksinis radiologinis tyrimas – polipozicinė rentgenoskopija, rentgenografija, tomografija, skaitmeninė fluorografija, kompiuterinė tomografija. Bronchoskopija ir biopsija padaryta 31 ligoniui. Buvo atliekami ir kiti tyrimai: ultragarsinis, funkciniai plaučių mėginiai, specifinės laboratorinės reakcijos diferencinei diagnostikai nuo plaučių tuberkuliozės, kolagenozės, echinokokozės, alergozės. Rezultatai 42 ligoniams diagnozuota periferinė ir vienam – centrinė hamartoma. Tipinė plaučių hamartomos lokalizacija – dešiniojo plaučio apatinė skiltis (21 ligonis, arba 49%). Centrinė endobronchinė hamartoma diagnozuota 42 metų ligoniui, ilgai sirgusiam lėtiniu bronchitu ir dažnai plaučių uždegimu. Operuota 30 ligonių. Devyni ligoniai iš 13 neoperuotųjų stebėti nuo 1 iki 14 metų. Periferinės hamartomos dažniausiai buvo besimptomės. 23 ligoniams hamartoma nustatyta atsitiktinai profilaktiškai tiriant plaučius dėl įvairių pilvo organų ligų arba atliekant fluorografinį tyrimą. Kitiems tirtiesiems hamartoma buvo diagnozuota sergant plaučių ligomis, tuberkulioze, alergoze, kolagenoze, įvairiais navikais. Dvylikai ligonių nepiktybinio plaučių naviko, arba hamartomos, diagnozė buvo tiksliai nustatyta poliklinikoje. Devyniems buvo įtartas pirminis vėžys arba metastazė, šešiems – specifinis infiltratas arba tuberkuloma, vienam – eozinofilinis infiltratas, vienam – echinokokas. Hamartoma 31 ligoniui buvo dešiniajame, 12 – kairiajame plautyje. Rentgenogramoje periferinė hamartoma buvo matoma apskritos formos ir ryškių kontūrų. Jos rentgenologinė struktūra buvo nevienoda. Šviesi (nekalcifikuota) hamartoma buvo matoma 14 ligonių. Kitiems 28 ligoniams diagnozuota kalcifikuota (inkrustuota arba tamsi) hamartoma, t. y. hamartochondroma (chondrohamartoma, osteochondrohamartoma). Išvados Nors plaučių hamartomos auga labai lėtai, pasitaiko labai greitai progresuojančių: 3 ligoniams, arba 7%, hamartomos per metus padidėjo iki 50%. Dažniausias jų variantas – hamartochondroma (chondrohamartoma). Piktybinių hamartomų nediagnozuota. Pagal neoplazinės kalcinozės laipsnį plaučių hamartomos radiologiškai skirstomos į tris variantus: šviesas, inkrustuotas ir tamsias. Radiologai gali diferencijuoti dažniausius plaučių hamartomų variantus, tarp jų chondrohamartomas ir osteochondrohamartomas. Reikšminiai žodžiai: disontogeniniai plaučių navikai, disembriomos, periferiniai plaučių navikai, hamartomos, hamartochondromos, neoplazinė kalcinozė, rentgenodiagnostika Diagnostics of pulmonary chondrohamartomas Aba Vitėnas Background / objective Hamartomas, as dysontogenic tumours, are most common among all peripheral non-malignant "spheral" pulmonary formations. Endobronchial central hamartoma is rare and is usually diagnosed as "epystoma" (bronchial obturator). Among peripheral hamartomas, tumours of cartilaginous structure (chondrohamartomas and ostheochondrohamartomas) are particularly common. The objective of the work was to describe pulmonary hamartomas and to concretize most common variations of hamartoma and their different radiological signs. Patients and methods Forty-three patients were diagnosed with pulmonary hamartoma (28 males and 15 females, 16–78 years old). In the hospital, clinical and laboratory tests were performed for all patients; complex radiological examination: polypositional X-ray radioscopy, radiography, tomography, digital fluorography, computed tomography. Thirty-one patients underwent bronchoscopy and biopsy, sonoscopy, functional lung tests, specific reactions. Results Forty-two patients had peripheral and one central hamartoma. The most typical localization of pulmonary hamartoma was the lower lobe of the right lung (21 patients, 49%). A central endobronchial hamartoma was diagnosed for a 42-year-old patient who had been ill for a long time with chronic bronchitis and frequent pneumonias. 30 pacients were operated one. From 13 non-operated patients, 9 were followed up in dynamics for 1–14 years. Peripheral hamartoma usually was asymptomatic. Twenty-three patients were diagnosed occasionaly during preventive pulmonary evaluation in case of different abdominal diseases or during fluorography. The others diagnosed as having hamartoma were ill with lung diseases, TBC, alergosis, collagenosis, different tumours. In out-patient settings, correct diagnosis of benign tumour or hamartoma was established for 12 patients, 9 were suspected as having cancer or metastases, 6 – specific infiltrate (tuberculoma), 1 – eosinophilic infiltrate and 1 – echinococcus; 31 patient had the tumour in the right, and 12 patients in the left lung. Radiologically, hamartoma is a spheric tumour with clear margins. As to the structure of the tumour, 14 patients had non-calcificated, "light" hamartoma, 28 had calcificated, "inlaid" and "hard" hamartochondroma. Thus, neoplastic calcinosis is characteristic of chondrohamartomas (osteochondrohamartomas) and occurs twice as often as hamartomas of other types. Conclusions Althought hamartomas grow very slowly, there were rapidly increasing ones: for 3 patients (7%) the volume of hamartoma increased by 50% in a year. The most common type was hamartochondroma (chondrohamartoma). There were no malignant hamartomas. Therefore radiologists can diagnose most common variations of hamartomas as "light", "inlaid" and "hard" ones. Keywords: dysontogenous pulmonary tumours, dysembriomas, peripheral pulmonary tumours, hamartomas, hamartochondromas, neoplastic calcinosis, radiological diagnostics


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