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Artist rendition of the facial features associated with Alagille syndrome.
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Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have we...
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Background
paucity of interlobular bile ducts is an important observation at liver biopsy in the diagnostic work-up of neonatal cholestasis. To date, other than in the Alagille syndrome, syndromic paucity of interlobular bile ducts has been documented in four cholestatic neonates with HFN1β mutations. A syndromic phenotype, known as renal cysts and...
Citations
... Many reports described female patients. [1,[5][6][7][8][9][10] However, others showed male patients. [2][3][4][11][12][13] Nevertheless, all of these were case reports and there were no case series that suggest the sex pattern of this disease. ...
... Other studies have also reported the same particular faces. [1][2][3][4][5][6][7][9][10][11][12] Guo et al. reported 8 of 11 patients with ALGS who had an associated congenital heart disease. [14] In our study, all the patients were found to have an associated congenital heart disease at the time of presentation. ...
... Most of the previous studies also reported ALGS patients with an associated cardiac defect and the majority reported peripheral pulmonary stenosis. [1,4,7,[9][10][11] Other congenital heart diseases such as atrial septic defect, right hypoplastic heart, and ventricular septal defect were also reported. [1,5,7,12] Fiorda-Diaz et al. reported a patient with unpaired TOF. ...
Background: Alagille syndrome (ALGS) is an autosomal dominant disease caused by JAG1 or NOTCH2 mutation. It is diagnosed by the presence of three out of five features: characteristic facies, posterior embryotoxon, peripheral pulmonary stenosis, vertebral defects, and interlobular bile duct paucity. This study aimed to review the prevalence, clinical presentations, diagnosis, treatment, and outcome of patients with ALGS.
Materials and Methods: This is a retrospective review of patients with ALGS at the Pediatric Department, Salmaniya Medical Complex, Bahrain, between August 1994 and October 2022. The diagnosis was based on clinical, laboratory, radiological, histopathological, and genetic findings.
Results: Five patients were found to have ALGS. The prevalence of ALGS in Bahrain was 1.04 patients per 100,000 (0.001%). Four were Bahraini and three were females. Median birth weight was 2.3 (2.3–2.5) kg. All patients presented at the time of birth with low birth weight, cholestatic jaundice, clay-colored stool, heart murmur, and dysmorphic facial features. All had congenital heart diseases, two had butterfly
vertebrae, and one had posterior embryotoxon. All had elevated liver enzymes and normal abdominal ultrasound. Three had positive hepatobiliary iminodiacetic acid scan and one had bile duct paucity in liver biopsy. Three had intraoperative cholangiogram. Four were positive for JAG1 mutation. All received ursodeoxycholic acid and fat-soluble vitamins. Two required liver transplantation.
Conclusion: ALGS is a rare disorder in Bahrain. Diagnosis is challenging as the disease can be associated with or misdiagnosed as biliary atresia. Patients with ALGS are at high risk of morbidity either by unnecessary intraoperative cholangiogram or unavoidable liver transplantation.
... Psychiatric manifestations of ALGS are not well discussed in the literature. A case report showed how a 12-year-old female addressed her depressive symptoms to her selfimage, associated with anhedonia, feelings of guilt and worthlessness, poor energy, and suicidal ideation [10]. Pruritus was the main complaint of our patient and affected her quality of life, especially during severe flare-ups, and psychological consequences of this symptom are not to be underestimated. ...
Alagille syndrome (ALGS) is a genetic-driven condition of chronic cholestasis, involving the intrahepatic bile ducts, heart, vessels, kidneys, skeletal tissues, eyes, and nervous system. Pathological mechanisms are still not defined. JAG1 and NOTCH2 gene mutations are responsible for most cases (96–97%). Diagnosis is based on clinical and laboratory findings—especially the presence of chronic cholestasis—and on genetic assessment. Bone abnormalities, deficiency of liposoluble vitamins, heart issues, and pruritus are the most prominent features of ALGS. Diagnostic imaging, such as ultrasonography, magnetic resonance imaging, and bone mass density assessment, is useful to study hepatic disease progression, estimate the risk of bone fracture, and rule out malignities. Therapy is based on ursodeoxycholic acid, rifampicin, cholestyramine, and supplementation of liposoluble vitamins. New therapeutic approaches are under investigation. Here, we describe a case of an individual with ALGS presenting with congenital chronic cholestasis and a long clinical history, in which pruritus is the main symptom.
... El paciente fue diagnosticado de neuritis óptica y tratado sin éxito con corticoides e inmunosupresores» (Mejía, Piedra i Merchán-Del Hierro, 2017). 3. «The patient is a 12-year-old female and was voluntarily admitted to our pediatric psychiatric institute for hospitalization in early 2016 after presenting to an outpatient service with si, intent, and a plan to overdose on medications and suffocate herself with a plastic bag»(Bresnahan et al., 2016).En aquests casos apareixen, en primer lloc, les informacions que el professional sanitari considera oportunes i rellevants perquè un altre col·lega entengui bé el seu estudi. Es tracta d'una caracterització que intenta ser objectiva -edat, sexe, etc.i també conserva millor l'anonimat del malalt. ...
The aim of this paper is to analyze the textual omission and presence of both patients and medical staff in clinical case reports published since the year 2000 in Catalan, Spanish, and English in specialized journals pertaining to the fields of neurology, psychiatry, and psychology. We review how the use of certain linguistic and rhetoric resources can be related to the depersonalization of healthcare. In contrast, we show other more humanized approaches that have been proven to be perfectly viable and compatible with the deontological demands of this genre, but which so far are valid only in some specialities.
... ortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths [1]. The facial features associated with Alagille syndrome include a broad forehead, deep-set eyes, up slanting palpebral fissures, prominent ears, bulbous tipped nose, and a pointed chin [13]. The orthodontic and dental features involves maxillary hypoplasia, maxillo-mandibular retrusion, talon cusps. ...
Alagille syndrome (ALGS) is a complex multi-systemic genetic disorder which involves primarily the liver, heart, eyes, face, and skeletal structure. The purpose of the work is to report a case of Alagille syndrome in which the facial and dental characteristics of the patient were analyzed.
Methods: A clinical and radiographic examination of the 15-year-old patient was performed with orthopantomography of dental arches and tele- radiography of the skull in lateral-lateral projection. A cephalometric trace was performed which presented 2 class values, deep bite.
Results: The case presents commons skeletal and dental findings of this syndrome reported in literature: maxillary hypoplasia, maxillo-mandibular retrusion, a class II molar relationship on both sides, a deep overbite, talon cusp on element 22. A further feature that this case presents is agenesis of elements 35 e 45 with infra occlusion of elements 75 and 85.
Conclusion: In clinical and radiographic analysis, the patient showed the common characteristics reported in the literature for Alagille’s syndrome. In addition, a feature not reported in the literature for this syndrome, i.e. agenesis of elements 35 and 45, has been found. These patients need orthodontic early diagnosis as they may present skeletal and dental characteristics that may be intercepted early second class, talon cusps and eventually agenesis.
Keywords: Alagille syndrome; Agenesis; Talon cusp; Premolar agenesis
The Alagille syndrome (AGLS) is a rare condition, with few studies reported in the literature, especially in the field of dentistry. It consists of a disease involving many systemic problems and specific facial features. The liver and heart are the most intensely affected organs, and depending on the severity, it may be necessary to perform transplants. It is an autosomal dominant disease with a variable expressivity, and its prevalence is 1/100,000 live births. Dental findings are conflicting. Some authors claim that dental anomalies occur only in deciduous dentitions; however, there is evidence that permanent teeth can also be affected, as will be described in this paper, through a case report of a patient diagnosed with AGLS, who sought out the Dentistry service at Pontifical Catholic University of Minas Gerais, complaining of a strong stain in her teeth, severe dental crowding, and a facial appearance of prognathism.
