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 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 A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Saba Ahmad ◽  
Luis Manon ◽  
Gifty Bhat ◽  
Jerry Machado ◽  
Alice Zalan ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cellular Differentiation ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disease ◽  
Sacrococcygeal Teratoma ◽  
Dominant Disease ◽  
The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

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 Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Bruno Besteiro ◽  
Filipa Gomes ◽  
Cláudia Costa ◽  
Raquel Portugal ◽  
Isabel Garrido ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Hypochromic Anemia ◽  
Extraintestinal Manifestations ◽  
Gastrointestinal Involvement ◽  
Gardner Syndrome ◽  
Clinical Challenge ◽  
Endoscopic Study ◽  
Dominant Disease ◽  
Etiological Study

Gardner’s syndrome is an autosomal dominant disease caused by a mutation in the APC gene with 20–30% of cases presenting de novo. This entity is a variant of familial adenomatous polyposis, with a prevalence of 3/100,000 habitants. It may present as early as 2 months of age with a variety of both colonic and extracolonic symptoms. We report a case of a 21-year-old man, without any known family history, presenting with microcytic hypochromic anemia and constitutional symptoms for two months. Ultimately, after the etiological study, Gardner syndrome diagnosis was established as an index primary familiar case. Gardner syndrome is a clinical challenge which requires a prompt suspicion in order to reach its diagnosis. Given the malignant evolution of adenomas in 100% of untreated patients, early identification of extraintestinal manifestations (identifiable prior to colonic symptoms) is of the essence. A consequent endoscopic study to confirm gastrointestinal involvement is essential for a more favorable prognosis.

scholarly journals Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature

2015 ◽  
Vol 6 (2) ◽  
pp. 251-259
Author(s):  
Chia Lee Hsu ◽  
Christopher J. Layton
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Autosomal Dominant ◽  
Optic Disc Pit ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Mother And Daughter ◽  
Dominant Disease ◽  
Familial Disorders ◽  
Optic Nerve Coloboma

Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.

scholarly journals A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

2014 ◽  
Vol 13 (5) ◽  
pp. 588-595 ◽  
Author(s):  
Liana Veneziano ◽  
Michael H. Parkinson ◽  
Elide Mantuano ◽  
Marina Frontali ◽  
Kailash P. Bhatia ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Review Of The Literature ◽  
Pituitary Mass ◽  
Hereditary Chorea ◽  
Benign Hereditary Chorea

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 Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene

2012 ◽  
Vol 56 (8) ◽  
pp. 485-489 ◽  
Author(s):  
Maria Lúcia Corrêa-Giannella ◽  
Daniel Soares Freire ◽  
Ana Mercedes Cavaleiro ◽  
Maria Angela Zanella Fortes ◽  
Ricardo Rodrigues Giorgi ◽  
...  
Keyword(s):  
Glutamate Dehydrogenase ◽  
De Novo ◽  
Direct Sequencing ◽  
Elevated Serum ◽  
Patient Treatment ◽  
Hyperinsulinemic Hypoglycemia ◽  
Activating Mutations ◽  
Dominant Disease ◽  
Intron Boundary ◽  
Fasting Hypoglycemia

The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease manifested by hypoglycemic symptoms triggered by fasting or high-protein meals, and by elevated serum ammonia. HI/HA is the second most common cause of hyperinsulinemic hypoglycemia of infancy, and it is caused by activating mutations in GLUD1, the gene that encodes mitochondrial enzyme glutamate dehydrogenase (GDH). Biochemical evaluation, as well as direct sequencing of exons and exon-intron boundary regions of the GLUD1 gene, were performed in a 6-year old female patient presenting fasting hypoglycemia and hyperammonemia. The patient was found to be heterozygous for one de novo missense mutation (c.1491A>G; p.Il497Met) previously reported in a Japanese patient. Treatment with diazoxide 100 mg/day promoted complete resolution of the hypoglycemic episodes. Arq Bras Endocrinol Metab. 2012;56(8):485-9

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