scholarly journals Alagille Syndrome: A case report of a rare oral and multisystem manifestation

2022 ◽  
Vol 13 (1) ◽  
pp. 317-321
Author(s):  
Adidémè Monique EZIN
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Dental Treatment ◽  
Alagille Syndrome ◽  
Multisystem Disorder ◽  
High Tendency ◽  
Live Births ◽  
Ocular Disorders ◽  
Attending Physicians ◽  
Facial Dysmorphia

Alagille syndrome is an inherited multisystem disorder of autosomal dominant transmission. Its prevalence is estimated at 1 per 70,000 to 100,000 live births. We report the case of a young patient suffering from Alagille syndrome who consulted the center of diagnosis and dental treatment of Rabat - MOROCCO (CCTD). The general manifestations are facial dysmorphia, hepatic, cardiac, and ocular disorders. Hepatic cholestasis causes oral repercussions such as a yellow oral mucosa, hypomineralization of the teeth, and a high tendency to dental caries. The management of such a patient requires the knowledge of the general health of the patient, therefore collaboration with the attending physicians, the establishment of rigorous oral hygiene, personalized prophylaxis with a consequent contribution of fluorine.

An Atypical Presentation of Alagille Syndrome

2017 ◽  
Vol 21 (1) ◽  
pp. 79-83 ◽  
Author(s):  
Katherine Y Wu ◽  
Amanda L Treece ◽  
Pierre A Russo ◽  
Jessica W Wen
Keyword(s):  
Case Report ◽  
Bile Duct ◽  
Early Onset ◽  
Alagille Syndrome ◽  
Facial Features ◽  
Atypical Presentation ◽  
Multisystem Disorder ◽  
Pathologic Findings ◽  
Bile Duct Damage ◽  
Subsequent Identification

Alagille syndrome is a multisystem disorder classically involving the liver, heart, vertebrae, facial features, and the eyes. In this case report, we document a case of Alagille syndrome with an atypical clinical and histopathologic presentation and subsequent identification of a novel JAG1 missense mutation. This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.

scholarly journals Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
James J. Bresnahan ◽  
Zachary A. Winthrop ◽  
Rabia Salman ◽  
Salman Majeed
Keyword(s):  
Case Report ◽  
Rare Condition ◽  
Alagille Syndrome ◽  
Chronic Illnesses ◽  
Community Resources ◽  
Multisystem Disorder ◽  
Childhood Illnesses ◽  
Psychiatric Manifestations ◽  
Chronic Childhood

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 well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature. The current study is a case report of a twelve-year-old female hospitalized in our pediatric psychiatric hospital for suicidal ideation with intent and plan. The patient had major depressive disorder, anxiety, other specified feeding and eating disorder, and attention-deficit/hyperactive disorder.

scholarly journals Case report on Tuberous Sclerosis

2014 ◽  
Vol 2 (4) ◽  
pp. 208-210
Author(s):  
Sushma Shrestha ◽  
Sabina Shrestha ◽  
Anil Raj Ojha
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Late Childhood ◽  
Multisystem Disorder ◽  
Rare Genetic Disorder ◽  
Autosomal Dominant Fashion

Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here, we report a case of an 11 year male child with tuberous sclerosis.DOI: http://dx.doi.org/10.3126/jkmc.v2i4.11798Journal of Kathmandu Medical CollegeVol. 2, No. 4, Issue 6, Oct.-Dec., 2013Page : 208-210

scholarly journals Alagille syndrome and pregnancy

2019 ◽  
pp. 1753495X1984973 ◽  
Author(s):  
Adam Morton ◽  
Sailesh Kumar
Keyword(s):  
Pregnancy Outcomes ◽  
Autosomal Dominant ◽  
Significant Risk ◽  
Alagille Syndrome ◽  
Adverse Pregnancy Outcomes ◽  
Multisystem Disorder ◽  
Adverse Pregnancy ◽  
In Pregnancy

Alagille syndrome is an autosomal dominant multisystem disorder with an estimated frequency of 1 in 30 000. Only a small number of pregnancy outcomes have been described in women with this condition. The report details the pregnancy outcomes of two women with Alagille syndrome. We also review the literature pertaining to this syndrome in pregnancy and demonstrate a significant risk of adverse pregnancy outcomes.

Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

2019 ◽  
Vol 2 ◽  
pp. 5
Author(s):  
Kevin Kapcio ◽  
Kamila Skalski ◽  
Vikram Dogra
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Renal Cell ◽  
Autosomal Dominant ◽  
Colonic Polyps ◽  
Sonographic Evaluation ◽  
Parathyroid Adenomas ◽  
Pulmonary Cysts ◽  
Renal Screening ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review

2003 ◽  
Vol 32 (8) ◽  
pp. 489-491 ◽  
Author(s):  
R. S. Ryan ◽  
S. O. Myckatyn ◽  
G. D. Reid ◽  
P. Munk
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Alagille Syndrome

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Iliac Pseudoaneurysm, Only a Manifestation With More Causes: A Case Report

2021 ◽  
pp. 152660282110250
Author(s):  
Barbara Infante ◽  
Adelaide Di Lorenzo ◽  
Dario Troise ◽  
Angela M. R. Ferrante ◽  
Maurizio Ruggieri ◽  
...  
Keyword(s):  
Risk Factor ◽  
Case Report ◽  
Kidney Disease ◽  
Surgical Procedures ◽  
Arterial Wall ◽  
Autosomal Dominant ◽  
Vascular Complication ◽  
Polycystic Kidney ◽  
Vessel Lumen ◽  
Autosomal Dominant Polycystic Kidney

Pseudoaneurysm is due to a disruption in arterial wall continuity. It forms a sac that communicates with the vessel lumen and is surrounded by the compressed, surrounding tissues and not by the wall of the artery from which the lesion arises. Many causes can predispose to the formation of a pseudoaneurysm such as trauma, surgical procedures, anticoagulation. In our patient another important risk factor for the formation of a pseudoaneurysm is ADPKD (autosomal dominant polycystic kidney disease) that can cause vascular complication. The mechanisms leading to the genesis of the pseudoaneurysms in our patient are unknown, but the clinicians should bear in mind when evaluating this type of patients that ADPKD may have a various range of systemic cardiovascular manifestation.

Dental Treatment of Children with CATCH 22 Syndrome: Case Report

2013 ◽  
Vol 13 (1) ◽  
pp. 13
Author(s):  
Mi Sun Kim ◽  
Soo Eon Lee ◽  
Hyo Jung Ahn ◽  
Jae-Hong Park ◽  
Sung Chul Choi
Keyword(s):  
Case Report ◽  
Dental Treatment ◽  
Catch 22
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