scholarly journals Congenital Microcoria: Clinical Features and Molecular Genetics

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 624
Author(s):  
Clémentine Angée ◽  
Brigitte Nedelec ◽  
Elisa Erjavec ◽  
Jean-Michel Rozet ◽  
Lucas Fares Taie
Keyword(s):  
Autosomal Dominant ◽  
Open Angle Glaucoma ◽  
Associated Anomalies ◽  
Structural Variations ◽  
Molecular Features ◽  
Dilator Muscle ◽  
Dominant Disease ◽  
Rare Autosomal Dominant Disease ◽  
Chamber Angle ◽  
Axial Myopia

Iris integrity is required to regulate both the amount of light reaching the retina and intraocular pressure (IOP), with elevated IOP being a major risk factor for glaucoma. Congenital microcoria (MCOR) is an extremely rare, autosomal dominant disease affecting iris development and hindering both of these functions. It is characterized by absent or underdeveloped dilator muscle fibers and immaturity of the iridocorneal angle—where the aqueous humor is drained—which play a central role in IOP regulation. The dilator muscle anomaly is manifested in pinhole pupils (<2 mm) and thin transilluminable irises, causing both hemeralopia and photoaversion. Axial myopia and juvenile open-angle glaucoma are very frequent (80% and 30% of all cases, respectively). It has been suggested that the immaturity of the chamber angle contributes to glaucoma, and myopia has been ascribed to photoaversion and elevated IOP. Though possible, these mechanisms are insufficient. The disease has been tied to chromosome 13q32.1 structural variations. In addition to compromising iris development, modification of the 13q32.1 architecture could alter signaling pathways for axial ocular length and IOP regulation. Here, we summarize the clinical, histological, and molecular features of this disease, and we discuss the possible etiology of associated anomalies.

scholarly journals Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-7
Author(s):  
Kazuki Yoshida ◽  
Masao Miyagawa ◽  
Teruhito Kido ◽  
Kana Ide ◽  
Yoshifumi Sano ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Rare Disorders ◽  
Pulmonary Cysts ◽  
Dominant Disease ◽  
Rare Autosomal Dominant Disease

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disease characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and renal cancers. Oncocytomas are benign epithelial tumors that are also rare. Recently, there have been a few case reports of BHD with a parotid oncocytoma that appears to have a BHD phenotype. Here we document the eighth known case and describe the magnetic resonance imaging features of the parotid oncocytoma, which mimicked Warthin’s tumor. Radiologists should be aware of the association between these rare disorders.

scholarly journals Genotype–Phenotype Correlations in Children with HHT

2020 ◽  
Vol 9 (9) ◽  
pp. 2714 ◽  
Author(s):  
Alexandra Kilian ◽  
Giuseppe Latino ◽  
Andrew White ◽  
Dewi Clark ◽  
Murali Chakinala ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Autosomal Dominant ◽  
Vascular Malformations ◽  
Genetic Data ◽  
Chi Square ◽  
Chi Square Test ◽  
Dominant Disease ◽  
The Central Nervous System ◽  
Age Range ◽  
Rare Autosomal Dominant Disease

Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may present with mucocutaneous telangiectasia, as well as organ arteriovenous malformations (AVMs) of the central nervous system, lungs, and liver. Genotype–phenotype correlations have been well described in adults with HHT. We aimed to investigate genotype–phenotype correlations among pediatric HHT patients. Demographic, clinical, and genetic data were collected and analyzed in 205 children enrolled in the multicenter Brain Vascular Malformation Consortium HHT Project. A chi-square test was used to determine the association between phenotypic presentations and genotype. Among 205 patients (age range: 0–18 years; mean: 11 years), ENG mutation was associated with the presence of pulmonary AVMs (p < 0.001) and brain VM (p < 0.001). The presence of a combined phenotype—defined as both pulmonary AVMs and brain VMs—was also associated with ENG mutation. Gastrointestinal bleeding was rare (4.4%), but was associated with SMAD4 genotype (p < 0.001). We conclude that genotype–phenotype correlations among pediatric HHT patients are similar to those described among adults. Specifically, pediatric patients with ENG mutation have a greater prevalence of pulmonary AVMs, brain VMs, and a combined phenotype.

scholarly journals Who were those MEN hiding behind the Ulcers?: A Case Report

2020 ◽  
Vol 35 (2) ◽  
pp. 210-214
Author(s):  
Shazatul Reza Binti Mohd Redzuan ◽  
◽  
Yong Sy Liang
Keyword(s):  
Disease Progression ◽  
Mesenteric Artery ◽  
Maintenance Treatment ◽  
Autosomal Dominant ◽  
Multiple Endocrine Neoplasia Type ◽  
Rare Condition ◽  
Octreotide Lar ◽  
Dominant Disease ◽  
Rare Autosomal Dominant Disease

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease caused by a mutation in the MEN1 gene. We present a 65-year-old man with MEN1 who has primary hyperparathyroidism, microprolactinoma, meningioma and gastrinoma. He had undergone parathyroidectomy followed by tumour excision of meningioma. The duodenal gastrinoma lesion was inoperable as it was close to the superior mesenteric artery with high surgery risk. Medical therapy with octreotide LAR had been initiated and showed good biochemical response as well as disease progression control. Chemoembolization was proposed if the duodenum lesion reduces in size on maintenance treatment with octreotide LAR. This case highlights the challenges in managing this rare condition and octreotide LAR has shown to be effective in controlling the disease progression in MEN1 with inoperable gastrinoma.

scholarly journals Mosaic epidermolytic ichthyosis - case report

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 116-119 ◽  
Author(s):  
Marcela Sena Teixeira Mendes ◽  
Samara Silva Kouzak ◽  
Thaissa Araújo Aquino ◽  
Gustavo Henrique Soares Takano ◽  
Antonio de Padua Lima
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
The Other ◽  
Autosomal Dominant Disease ◽  
Epidermolytic Ichthyosis ◽  
Dominant Disease ◽  
Mosaic Form ◽  
Two Populations ◽  
Rare Autosomal Dominant Disease

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.

scholarly journals 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Antonella Gagliano ◽  
Erica Pironti ◽  
Francesca Cucinotta ◽  
Cecilia Galati ◽  
Roberta Maggio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Psychiatric Symptoms ◽  
Disease Risk ◽  
Positive Family History ◽  
Bipolar Disorders ◽  
Psychiatric Illnesses ◽  
Skeletal Malformations ◽  
Dominant Disease ◽  
The Brain ◽  
Rare Autosomal Dominant Disease

Microduplication of chromosome 8q22.1 is mainly associated to Leri’s pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri’s pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.

scholarly journals A clinical case of aromatase excess syndrome associated with 15Q21.2 duplication

2020 ◽  
Vol 66 (2) ◽  
pp. 79-84
Author(s):  
Yulia V. Kasyanova ◽  
Irina Yu. Chernyak ◽  
Inobatchon K. Voronina ◽  
Natalia Yu. Kalinchenko
Keyword(s):  
Clinical Case ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Review Of The Literature ◽  
Dominant Disease ◽  
Early Closure ◽  
Low Levels ◽  
Secondary Hypogonadism ◽  
Rare Autosomal Dominant Disease ◽  
Pubertal Gynecomastia

Aromatase excess syndrome (SIA) is a rare autosomal dominant disease caused by increased extraglandular conversion of androgens to estrogens. SIA is characterizedby early gonadotropin-independent hyperestrogenemia, causing pre-pubertal gynecomastia in boys and premature isosexual development in girls. Adults patients have short stature, due to the early closure of epiphyses because of hyperestrogenemia. Women usually have macromastia, endometrial hyperplastic processes and the late onset of menopause. In men, there is a moderate decrease of gonadotropins, leading to secondary hypogonadism. SIA in children can be suspected on a combination of the clinical picture of an excess of estrogens, increased levels of estrogens with low levels of gonadotropins after the exclusion of an estrogen-producing tumor. The frequency of occurrence of SIA is unknown, due to the rarity of the disease and the complexity of its molecular and genetic verification. In this article, we describe a clinical case of a 10-year-old patient with a late diagnosis of aromatase overactivity syndrome caused by a 15q21.2 microduplication of the CYP19A1 gene, and conduct a brief review of the literature.

scholarly journals Anesthetic Management of Apert Syndrome: A Case Report

2021 ◽  
Vol 43 (1) ◽  
pp. 50-53
Author(s):  
Megha Koirala ◽  
Gentle S Shrestha ◽  
Pankaj Joshi ◽  
Bashu D Parajuli
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Anesthetic Management ◽  
Apert Syndrome ◽  
Mask Ventilation ◽  
Different Types ◽  
Dominant Disease ◽  
Special Challenge ◽  
Bag Mask Ventilation ◽  
Rare Autosomal Dominant Disease

Apert syndrome is a rare autosomal dominant disease associated with abnormalities of skull, face and limbs. These patients present for different types of surgeries. To the anesthesiologists,they pose special challenge during airway management, manifesting as difficulty in bag-mask ventilation and increased incidence of airway obstruction. Here, we report a case of a child with Apert syndrome undergoing syndactyly release under general anesthesia, in whom severe bronchospasm and a failed bag-mask ventilation occurred during the emergence of anesthesia requiring re-insertion of laryngeal mask airway.

scholarly journals Difficulties in clinical diagnosis the atypical form of Andersen-Tawil syndrome

2020 ◽  
pp. 76-77
Author(s):  
Д.А. Колядин ◽  
Т.В. Федотова ◽  
И.А. Кузнецова
Keyword(s):  
Dna Sequencing ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Correct Diagnosis ◽  
Periodic Paralysis ◽  
Atypical Form ◽  
Cardiac Dysrhythmias ◽  
Dominant Disease ◽  
Atypical Presentations ◽  
Rare Autosomal Dominant Disease

Синдром Андерсена-Тавила - редкое аутосомно-доминантное заболевание, при котором развиваются нарушение сердечного ритма, периодический паралич, лицевые и скелетные дизморфии. Вариабельность клинических проявлений усложняет постановку верного диагноза. В статье описывается клинический случай и анализируются особенности течения заболевания у пациента, правильный диагноз которому поставлен благодаря результатам секвенирования. Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by periodic paralysis, cardiac dysrhythmias, distinct facial and skeletal characteristics, that may be variably present in the affected members. In the article there is a clinical case with atypical presentations. The correct diagnosis has been done due to results of DNA sequencing.

Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

2016 ◽  
Vol 29 (9) ◽  
Author(s):  
Dorotea Ninković ◽  
Vladimir Sarnavka ◽  
Anica Bašnec ◽  
Mario Ćuk ◽  
Danijela Petković Ramadža ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
De Novo Mutation ◽  
Congenital Hyperinsulinism ◽  
Review Of The Literature ◽  
Plasma Ammonia ◽  
Activating Mutations ◽  
Dominant Disease ◽  
Recurrent Hypoglycemia ◽  
Rare Autosomal Dominant Disease

AbstractHyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of plasma ammonia. HI/HA syndrome is one of the more common forms of congenital hyperinsulinism (CHI), caused by activating mutations within the

scholarly journals Characteristics of the odontological management of patients with progressive ossifying fibrodyplasia

2019 ◽  
Vol 25 (4) ◽  
pp. 33
Author(s):  
Aicha Ibourk ◽  
Sidi Mohammed Bouzoubaa ◽  
Ihsane Ben Yahya
Keyword(s):  
Heterotopic Ossification ◽  
Dental Care ◽  
Soft Tissues ◽  
Autosomal Dominant ◽  
Oral Surgery ◽  
Maxillofacial Region ◽  
Dominant Disease ◽  
Therapeutic Attitude ◽  
Inflammatory Drugs ◽  
Rare Autosomal Dominant Disease

Introduction: Progressive ossifying fibrodysplasia (POF) is a rare autosomal dominant disease characterized by the congenital malformation of the big toes and progressive postnatal heterotopic ossification of soft tissues with characteristic anatomical profiles. The maxillofacial region may also be affected. Observation: A 24-year-old man was referred by a traumatologist for the restoration of the oral cavity. He showed characteristic signs of POF. Oral clinical examination showed limitation of the oral opening, multiple dental caries, dental necrosis, and an asymptomatic impacted 48. Management included motivation for oral hygiene, scaling and dental extractions, followed by a prescription of steroidal anti-inflammatory drugs at a single dose of 2 mg/kg/day for 4 days. Discussion: The management of patients with POF in oral surgery has particularities. Dental care must be performed in brief sessions. The patient must be in a semi-sitting position, with the neck held upright, to avoid hyper extension of the neck and to improve comfort and safety. A prescription for corticosteroids is necessary after dental care to prevent possible heterotopic ossification. Through this article, we highlight the characteristics of POF, therapeutic attitude, and precautions to take to avoid possible complications.

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