An Atypical Presentation of Alagille Syndrome

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.

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

World Journal of Advanced Research and Reviews ◽

10.30574/wjarr.2022.13.1.0012 ◽

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.

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Oral manifestations of Alagille syndrome

BMJ Case Reports ◽

10.1136/bcr-2020-234689 ◽

2020 ◽

Vol 13 (5) ◽

pp. e234689

Author(s):

Anne-Laure Bonnet ◽

Victor Greset ◽

Tiphaine Davit-Beal

Keyword(s):

Bone Development ◽

Alagille Syndrome ◽

Future Research ◽

Facial Features ◽

Multisystem Disorder ◽

Ocular Abnormalities ◽

Tooth Abnormalities ◽

Physiological Pathways ◽

Variable Phenotype

Alagille syndrome (AGS) is a multisystem disorder classically involving liver and heart failure, characteristic vertebral and facial features and ocular abnormalities. AGS is caused by heterozygous mutations in JAG1 or NOTCH2, with variable phenotype penetrance. We report two cases of AGS in children with tooth defects characterised by green discolouration and hypomineralisation. The role of hyperbilirubinaemia (HB) in this atypical colour, a classical feature of AGS, has been well described. However, it does not totally explain the dental phenotype. As JAG1 and NOTCH2 mutations can affect bone development and considering common physiological pathways between bone and tooth mineralisation, both mutations could participate in this unusual dental phenotype. The role of HB and genetics in the development of the dental phenotype of AGS is discussed in two prototypical cases. Future research should focus on the underlying genetic component of tooth abnormalities.

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Atypical presentation and clinical management of jaundice secondary to Choledocoduodenal fistula: A Case Report

South East Asia Journal of Public Health ◽

10.3329/seajph.v7i1.34681 ◽

2017 ◽

Vol 7 (1) ◽

pp. 55-57

Author(s):

Smit Shah ◽

Praful Shah

Keyword(s):

Public Health ◽

Risk Factors ◽

Case Report ◽

Bile Duct ◽

Clinical Presentation ◽

Ampulla Of Vater ◽

Atypical Presentation ◽

Different Types ◽

The Common ◽

Hepatobiliary Complications

Choledocoduodenal fistula (CDDF) is an abnormal connection between the common bile duct and the duodenum which bypasses the normal opening of Ampulla of Vater. In this case, we describe the initial clinical presentation, diagnosis and treatment of a patient with CDDF along with prophylactic surgical management in order to prevent future hepatobiliary complications. In addition, we also discuss various risk factors of CDDF. Finally, we also discuss different types of CDDF along with its various hematologic and radiologic findings.South East Asia Journal of Public Health Vol.7(1) 2017: 55-57

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

Case Reports in Psychiatry ◽

10.1155/2016/1657691 ◽

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.

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Multiple Clinical Findings on The Tongue: Variants of Normal or Pathologic Condition? (A Case Report)

Dentika Dental Journal ◽

10.32734/dentika.v24i2.7220 ◽

2021 ◽

Vol 24 (2) ◽

pp. 55-59

Author(s):

Yurina Alhayu ◽

Febrina Rahmayanti ◽

Ambar Kusuma Astuti

Keyword(s):

Case Report ◽

Clinical Findings ◽

Atypical Presentation ◽

Pathological Findings ◽

Pathologic Condition ◽

Pathologic Findings ◽

Dental Hospital ◽

Left And Right ◽

Multiple Variants ◽

Fissured Tongue

Various normal and pathologic findings might occasionally be found on the tongue and might confuse some patients and clinician due to its atypical presentation. This case report aimed to present a case report of multiple oral findings related to variants of normal and pathological findings on the tongue: geographic tongue, fissured tongue, and central papillary atrophy. A 53-year-old male patient came to Universitas Indonesia Dental Hospital for a dental check-up. Objective examination in the tongue showed depapilated areas surrounded by keratinized lining in the ventral and lateral left and right area of the tongue, multiple fissures in all over the dorsum of the tongue, and an ovoid redness area in the middle of 2/3 posterior dorsum part of the tongue. All those findings were asymptomatic. Those clinical findings were diagnosed as geographic tongue, fissured tongue, and central papillary atrophy. This case presents unique multiple variants of normal and pathological findings in the tongue. It is important to an oral health professional to have knowledge and ability to determine normal anatomy, variants of normal and pathological lesions. Patients should be informed and educated about oral mucosa normal variations and related clinical findings so they would not develop unnecessary anxiety. Keywords: central papillary atrophy, fissured tongue, geographic tongue, normal variations

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