scholarly journals ALAGILLE SYNDROME AS A CHALLENGING CLINICAL CASE IN PEDIATRIC PRACTICE (case report)

2017 ◽  
Vol 4 (2) ◽  
pp. 83-85
Author(s):  
Nigar Hajiyeva
Keyword(s):  
Clinical Case ◽  
Spontaneous Mutation ◽  
Pulmonary Stenosis ◽  
Alagille Syndrome ◽  
Final Diagnosis ◽  
Autosomal Dominant Disorder ◽  
Chronic Cholestasis ◽  
Characteristic Features ◽  
Prolonged Jaundice ◽  
Peripheral Pulmonary Stenosis

Hajiyeva N.A.Alagille syndrome is a multisystem, highly variable, autosomal dominant disorder, which can be triggered by spontaneous mutation. This disease primarily affects the liver (chronic cholestasis), heart (most often peripheral pulmonary stenosis), eyes (posterior embryotoxon), face (characteristic features), and skeleton (butterfly vertebrae). The paper presents the clinical case of prolonged jaundice with an increased liver enzymes in infant and no final diagnosis for a long time.KeyWords: Alagille syndrome, chronic cholestasis, ursodeoxycholic acid СИНДРОМ АЛАЖІЛЯ, ЯК СКЛАДНИЙ КЛІНІЧНИЙ ПРИКЛАД З ПЕДІАТРІЧНОЇ ПРАКТИКИ (клінічний випадок)Хаджієва Н.А.Синдром Алажіля є мультисистемним варіабельним аутосомно-домінантним розладом, який є наслідком спонтанної мутації. Це захворювання перед усім уражує печінку (хронічний холестаз), серце (найчастіше периферичний стеноз легеневої артерії), очі (задні ембріотоксони), обличчя (характерні ознаки) і скелет (хребці у вигляді метеликів). В публікації представлений клінічний випадок тривалої жовтяниці з підвищеням печінкових ферментів у дитини раннього віку, у якої протягом тривалого часу неможливо було встановти клінічний діагноз.Ключові слова: синдром Алажіля, хронічний холестаз, урсодеоксихолєва кислота СИНДРОМ АЛАЖИЛЯ КАК СЛОЖНЫЙ КЛИНИЧЕСКИЙ ПРИМЕР ИЗ ПЕДИАТРИЧЕСКОЙ ПРАКТИКИ (клинический случай)Хаджиева Н.А.Синдром Алажиля является мультисистемным вариабельным аутосомно-доминантным расстройством, которое является следствием спонтанной мутации. Это заболевание прежде всего поражает печень (хронический холестаз), сердце (чаще всего периферический стеноз легочной артерии), глаза (задний эмбриотоксон), лицо (характерные признаки) и скелет (позвонки в виде бабочек). В публикации представлен клинический случай длительной желтухи с повышением печеночных ферментов у ребенка раннего возраста, у которого в течение длительного времени невозможно было установить клинический диагноз.Ключевые слова: синдром Алажиля, хронический холестаз, урсодеоксихолевая кислота

scholarly journals Alagille Syndrome: Resolution of Xanthomas

1995 ◽  
Vol 9 (4) ◽  
pp. 187-190
Author(s):  
NJ Leonard ◽  
V Dias ◽  
HG Parsons
Keyword(s):  
Pulmonary Stenosis ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Hdl Cholesterol ◽  
Alagille Syndrome ◽  
Total Serum ◽  
Total Serum Cholesterol ◽  
Autosomal Dominant Disorder ◽  
Chronic Cholestasis ◽  
Peripheral Pulmonary Stenosis

Alagille syndrome is a rare autosomal dominant disorder characterized by chronic cholestasis due to paucity of intrahepatic biliary ducts, characteristic facies, peripheral pulmonary stenosis, ocular posterior embryotoxon and skeletal abnormalities. Very little information is available on the cholestatic, lipid and lipoprotein profiles in individuals with Alagille syndrome. The course of xanthomatosis and the lipid-lipoprotein profile of a 15-year-old male with incomplete Alagille syndrome with marked xanthomatosis and extremely elevated cholesterols secondary to cholestasis is reported. He showed gradual resolution of xanthomas beginning at age 12 years with a concurrent reduction in his total serum cholesterol. The lipid studies showed that the majority of cholesterol was found in low density lipoprotein (LDL) with lesser amounts in lipoprotein (Lp)-X, a lipoprotein precursor complex seen in patients with cholestasis, and high density lipoprotein (HDL). With resolution of xanthomas, LDL and Lp-X decreased while HDL-cholesterol and apolipoprotein (Apo) A-I increased. Gamma glutamyltransferase and bilirubin decreased but remained 15- and threefold elevated, respectively.

scholarly journals A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Alejandra del Pilar Reyes-de la Rosa ◽  
Gustavo Varela-Fascinetto ◽  
Constanza García-Delgado ◽  
Edgar Ricardo Vázquez-Martínez ◽  
Pedro Valencia-Mayoral ◽  
...  
Keyword(s):  
De Novo ◽  
Pulmonary Stenosis ◽  
Gene Mutations ◽  
Alagille Syndrome ◽  
Notch Signaling Pathway ◽  
Heterozygous Mutation ◽  
Sequencing Analysis ◽  
Autosomal Dominant Disorder ◽  
Intrahepatic Bile Ducts ◽  
Chronic Cholestasis

Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases are caused by JAG1 gene mutations. We report the case of a 2-year-old Mexican mestizo patient with Alagille syndrome, having exhibited jaundice and cholestatic syndrome as of three weeks of age. Sequencing analysis of the JAG1 gene revealed the novel heterozygous mutation c.91dupG that originates a truncated protein and therefore a possibly diminished activation of the Notch signaling pathway. The latter may explain the severe phenotype of the patient. Since the mutation was not identified in the parents, it was considered a de novo event, highlighting the importance of molecular diagnosis and genetic counseling. In conclusion, this report widens the spectrum of JAG1 gene mutations associated with Alagille syndrome.

scholarly journals Alagille syndrome with moyamoya disease

2017 ◽  
Vol 10 (3) ◽  
pp. 166 ◽  
Author(s):  
Rubaiyat Alam ◽  
Md. Rukunuzzaman ◽  
A. S. M. Bazlul Karim ◽  
Kamal Hossen ◽  
Afsana Yasmin
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Angiography ◽  
Liver Biopsy ◽  
Moyamoya Disease ◽  
Bile Ducts ◽  
Pulmonary Stenosis ◽  
Alagille Syndrome ◽  
Male Child ◽  
History Of ◽  
Peripheral Pulmonary Stenosis

<p>We report a 5 year old male child who presented with a history of progressive jaundice since infancy and generalized pruritus. He was also found to have typical triangular facies, posterior embryotoxon on both eyes, peripheral pulmonary stenosis and paucity of bile ducts in liver biopsy. Magnetic resonance angiography of brain showed typical features of moyamoya disease. The child was diagnosed as a case of Alagille syndrome. This particular syndrome with feature of moyamoya disease has been rarely reported.</p>

Alagille Syndrome: An Overview

2017 ◽  
Vol 36 (6) ◽  
pp. 343-347 ◽  
Author(s):  
Dalacy Jesina
Keyword(s):  
Autosomal Dominant ◽  
Pulmonary Stenosis ◽  
Alagille Syndrome ◽  
Notch Signaling Pathway ◽  
Autosomal Dominant Disorder ◽  
Vascular Events ◽  
Variable Expression ◽  
Intrahepatic Bile Ducts ◽  
Improved Outcomes ◽  
Detection And Diagnosis

AbstractAlagille syndrome (AGS) is a highly complex, multisystem, autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. This syndrome mainly affects the liver, causing significant cholestasis, which is caused by a paucity of intrahepatic bile ducts. There can be cardiac involvement, including, but not limited to, pulmonary stenosis and tetralogy of Fallot. Patients can also present with butterfly vertebra, ocular issues, and vascular events. Because this syndrome follows an autosomal dominant inheritance, it can have variable expression even in the same family line. For infants in the NICU who have a cardiac defect and persistent hyperbilirubinemia after two weeks of age, genetic testing for AGS should be considered. Early detection and diagnosis can lead to improved outcomes. In this discussion of AGS, the clinical features as well as management are discussed.

Use of balloon angioplasty to treat peripheral pulmonary stenosis

1984 ◽  
Vol 54 (8) ◽  
pp. 1069-1073 ◽  
Author(s):  
Albert P. Rocchini ◽  
Daniel Kveselis ◽  
MacDonald Dick ◽  
Dennis Crowley ◽  
A. Rebecca Snider ◽  
...  
Keyword(s):  
Balloon Angioplasty ◽  
Pulmonary Stenosis ◽  
Peripheral Pulmonary Stenosis

scholarly journals DIAGNOSTIC PROBLEMS ACCOMPANYING BRANHYOGENIC CANCER – A CLINICAL CASE

2020 ◽  
Vol 73 (3) ◽  
pp. 614-618
Author(s):  
Uliana D. Matolych ◽  
Svetlana V. Ushtan ◽  
Victoria V. Pankevych ◽  
Kateryna V. Horytska
Keyword(s):  
Head And Neck ◽  
Morphological Analysis ◽  
Clinical Case ◽  
Ultrasound Examination ◽  
Transitional Cell ◽  
Final Diagnosis ◽  
Surgical Removal ◽  
Invasive Squamous Cell Carcinoma ◽  
Bronchial Cancer ◽  
Neck Vessels

Tumours and tumorous lesions of head and neck account for 10% of all oncological pathologies. Branhyogenic cancer is found in 4.5% of patients with lateral cysts in the neck. The article highlights the results of research the clinical case of branhyogenic cancer, provide its clinical and morphological analysis. The aim of our work was to study the clinical case of bronchial cancer, providing clinical and pathomorphological analysis. Examination and treatment was conducted in accordance with the clinical protocol using the diagnostic criteria necessary for management of patients diagnosed with tumours and tumorous lesions in a particular clinical case. We applied ultrasound examination of the locus, angiography of head and neck vessels with tomohexol and with 3D reconstruction, histological examination of surgical specimens (macroscopy and microscopy). On the basis of clinical investigaton, ultrasound examination, angiography clinical diagnosis was formulated – lateral cyst on the left side of the neck. A radical surgical removal of the mass was conducted. Histopathological conclusion: there is a proliferation of cystic transitional cell epithelium with the locus of invasive squamous cell carcinoma in the cystic wall that suggests malignant transformation of bronchogenic cyst. Final diagnosis: branhyogenic cancer. Thorough examination and analysis of a clinical case demonstrates that the development of branhyogenic cancer, is histo-genetically associated with lateral cysts in the neck. Complexity of diagnosing and high percentage of malignancy induces to more early discovery and removal of lateral cysts in the neck .

scholarly journals PERIPARTUM CARDIOMYOPATHY – A CLINICAL CASE

2021 ◽  
Vol 19 (4) ◽  
Author(s):  
І.Т. Rusnak ◽  
V.K. Tashchuk ◽  
N.O. Slyvka ◽  
V.T. Kulachek ◽  
Y.V. Kulachek
Keyword(s):  
Heart Failure ◽  
Medical Treatment ◽  
Vaginal Delivery ◽  
Gestational Age ◽  
Clinical Case ◽  
State Institution ◽  
Final Diagnosis ◽  
Peripartum Cardiomyopathy ◽  
The State ◽  
Diagnosis And Management

This article presents a clinical case of peripartum cardiomyopathy in a 21-year-oldpatient with a gestational age of 32 weeks, accompanied by clinical manifestationsof heart failure and Lown-Ganong-Levine (LGL) syndrome. The patient underwentlaboratory and instrumental examinations, including echocardiography and Holtermonitoring. Thyrotoxic cardiomyopathy was ruled out in the process of differentialdiagnosis. The final diagnosis and management of the patient were determinedafter consultation with the State Institution "Institute of Pediatrics, Obstetrics andGynecology, named after Academician O.M. Lukyanova, of the National Academy ofMedical Sciences of Ukraine". Medical treatment significantly improved the patient'scondition and vaginal delivery went without complications. Manifestations of theperipartum cardiomyopathy gradually regressed and completely disappeared 6 monthsafter delivery.This case indicates the importance of timely diagnosis of peripartum cardiomyopathyfor a positive prognosis of patients.

Peripheral Pulmonary Stenosis Murmurs

1999 ◽  
Vol 18 (5) ◽  
pp. 65-66 ◽  
Author(s):  
Jenny Ecord
Keyword(s):  
Premature Infants ◽  
Pulmonary Stenosis ◽  
Peripheral Pulmonary Stenosis

QUESTION: WHAT IS A PERIPHERAL PULMONARY stenosis (PPS) murmur, and why is it so common in premature infants?

Desmoid tumor of the anterior abdominal wall in a female (Clinical case)

2018 ◽  
pp. 116-118
Author(s):  
M.V. Makarenko ◽  
◽  
D.O. Govseyev ◽  
S.V. Gridchin ◽  
N.H. Isaeva ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Desmoid Tumor ◽  
Clinical Case ◽  
Anterior Abdominal Wall ◽  
Correct Diagnosis ◽  
Final Diagnosis ◽  
Histological Findings ◽  
History Of ◽  
Slow Growing ◽  
Wall Tumor

Desmoid tumors (also called desmoids fibromatosis) are rare slow growing benign and musculoaponeurotic tumors. Although these tumors have a propensity to invade surrounding tissues, they are not malignant. These tumors are associated with women of fertile age, especially during and after pregnancy and postoperative surgeries. Our clinical case is interesting because of the rarity of the pathology and the difficulties in setting the correct diagnosis. The patient, with a history of laparoscopic myomectomy (2012), was preparing for a routine surgery for the endometrioma of the anterior abdominal wall, according to the results of the ultrasound and computed tomography. After surgical treatment, the final diagnosis was changed, based on the histological findings. Key words: desmoid tumor, abdominal wall tumor, fibroid.

Intraosseous mandibular schwannoma mimicking an odontogenic keratocyst, with a postsurgical pathological fracture

2008 ◽  
Vol 123 (5) ◽  
pp. 560-562 ◽  
Author(s):  
L Gallego ◽  
L Junquera ◽  
C Rodríguez-Recio ◽  
M F Fresno
Keyword(s):  
Schwann Cells ◽  
World Literature ◽  
Clinical Case ◽  
Pathological Fracture ◽  
Final Diagnosis ◽  
Odontogenic Keratocyst ◽  
Mandibular Angle ◽  
Benign Process ◽  
Keratocystic Odontogenic Tumour ◽  
Slow Growing

AbstractObjective:Schwannomas are slowly growing tumours derived from Schwann cells. We present a clinical case of schwannoma in the mandibular angle.Method:Case report and a review of the world literature concerning intraosseous schwannoma of the maxillofacial region.Results:Schwannomas or neurilemmomas are slow-growing, benign neoplasms derived from Schwann cells. Intraoral lesions are unusual and intraosseous schwannomas are even rarer, representing less than 1 per cent of benign primary tumours of the bones. We present a clinical case of schwannoma in the mandibular angle mimicking a keratocystic odontogenic tumour, with a complicated posterior evolution.Conclusion:Clinically, neurilemmomas are slow-growing tumours which may be present for years before becoming symptomatic. Radiographically, the image may be suggestive of a benign process such as an odontogenic keratocyst. Histological analysis of the specimens obtained is extremely important in order to establish the final diagnosis.

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