Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease

Hereditary angioedema (HAE) caused by C1-esterase inhibitor deficiency is an autosomal-dominant disease caused by a mutation in the C1-inhibitor gene. It is a rare disease that is often worsened during pregnancy and childbirth. HAE, though uncommon but if untreated it may lead to maternal death. The case report presents the successful management of a 24 years old, G2P1, with hereditary angioedema caused by C1-esterase inhibitor deficiency. This patient was managed with a multidisciplinary approach by an obstetrician, an immunologist, an anaesthesiologist and a pediatrician. She had an uneventful antenatal period, labor was induced. She had precipitate delivery and soon after delivery had a flare up of the disease. It was successfully managed with fresh frozen plasma and close observation.

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Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Frontiers in Genetics ◽

10.3389/fgene.2020.585136 ◽

2020 ◽

Vol 11 ◽

Author(s):

Parham Habibzadeh ◽

Zahra Tabatabaei ◽

Soroor Inaloo ◽

Muhammad Mahdi Nashatizadeh ◽

Matthis Synofzik ◽

...

Keyword(s):

Case Report ◽

Clinical Features ◽

Autosomal Recessive ◽

Neurodegenerative Disorder ◽

Deletion Mutation ◽

Sensorimotor Neuropathy ◽

Spastic Ataxia ◽

Phenotypic Spectrum ◽

Iranian Family ◽

Biallelic Mutations

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated with this disorder. In this report, we present the first Iranian family affected by ARSACS with unique clinical features (mirror movements, hypokinesia/bradykinesia, and rigidity) harboring a novel deletion mutation in the SACS gene. Our findings expand the genetic and phenotypic spectrum of this disorder.

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Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

Neuropediatrics ◽

10.1055/s-0041-1739132 ◽

2021 ◽

Author(s):

Ramona Cordani ◽

Livia Pisciotta ◽

Maria Margherita Mancardi ◽

Michela Stagnaro ◽

Giulia Prato ◽

...

Keyword(s):

Case Report ◽

Neurological Disease ◽

Neurological Deficits ◽

Loss Of Consciousness ◽

Gene Variants ◽

Alternating Hemiplegia Of Childhood ◽

Phenotypic Spectrum ◽

Genetics And Genomics ◽

Epilepsy Gene ◽

Main Clinical Manifestation

AbstractAlternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.

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Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

BMJ Case Reports ◽

10.1136/bcr.08.2008.0665 ◽

2009 ◽

Vol 2009 (jan21 1) ◽

pp. bcr0820080665-bcr0820080665

Author(s):

C Orellana ◽

J. Bernabeu ◽

S. Monfort ◽

M. Rosello ◽

J. S. Oltra ◽

...

Keyword(s):

Case Report ◽

Critical Region ◽

Phenotypic Spectrum

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Mosaic epidermolytic ichthyosis - case report

Anais Brasileiros de Dermatologia ◽

10.1590/abd1806-4841.20132203 ◽

2013 ◽

Vol 88 (6 suppl 1) ◽

pp. 116-119 ◽

Cited By ~ 4

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.

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Thalidomide as an effective treatment in a case of Osler Weber Rendu syndrome: a case report

Asian Journal of Medical Sciences ◽

10.3126/ajms.v7i4.14554 ◽

2016 ◽

Vol 7 (4) ◽

pp. 107-109

Author(s):

Titli Bandyopadhyay ◽

VT Anand ◽

Dibyendu Gangopadhyay

Keyword(s):

Case Report ◽

Effective Treatment ◽

Hereditary Hemorrhagic Telangiectasia ◽

Autosomal Dominant ◽

Autosomal Dominant Disease ◽

Medical Sciences ◽

Recurrent Epistaxis ◽

Dominant Disease ◽

Vascular Dysplasia

Osler Weber Rendu Syndrome (OWRS), or Hereditary Hemorrhagic telangiectasia (HHT) is an autosomal dominant disease presents with epistaxis, telangiactesia and multiorgan vascular dysplasia. Recurrent epistaxis is common in these patients and various local forms of therapy is tried to treat the condition, but there is lack of definitive and effective treatment. We present a patient of HHT with severe recurrent epistaxis successfully treated with thalidomide.Asian Journal of Medical Sciences Vol.7(4) 2016 107-109

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Zimmerman-Laband Syndrome Oral Manifestations A Case Report

Dental Research and Management ◽

10.33805/2572-6978.116 ◽

2019 ◽

pp. 3-5

Author(s):

Anuna Laila Mathew ◽

Mahima James ◽

Helen Maria

Keyword(s):

Mental Retardation ◽

Case Report ◽

Female Patient ◽

Autosomal Dominant ◽

Permanent Teeth ◽

Oral Manifestations ◽

Gingival Enlargement ◽

Dominant Disease ◽

Life Threatening ◽

Gingival Fibromatosis

Zimmerman-Laband syndrome was reported by Zimmerman in the year 1928 which is a rare inherited autosomal dominant disease characterized by generalized enlargement of the attached and marginal gingiva, abnormalities of nose, ear, deformities of nails, joint hyperextensibility, hepatosplenomegaly, skeletal abnormalities and occasional mental retardation. Idiopathic gingival enlargement is usually evident after the eruption of the permanent teeth. Both sexes are equally affected. Genetic loci for autosomal dominant modes of gingival fibromatosis is localized to chromosome 2p21p22 (HGF-1) and chromosome 5q12-q22 (HGF-2). This syndrome is not a life threatening disorder. Hereditary gingival enlargement is associated with syndromes like Rutherford syndrome, Zimmerman-Laband syndrome, Murray-Puretic-Drescher syndrome, Cross syndrome and Ramon’s syndrome. The most important feature of this syndrome is gingival enlargement appearing early in childhood. Idiopathic gingival enlargement is usually evident after the eruption of the permanent teeth. Surgical correction of gingival fibromatosis is recommended, although there is no information on the permanence of the results of this treatment. We present a case of a 14 year old female patient with Zimmerman-Laband syndrome. Gingivectomy was carried out in the upper and lower anterior region there by exposing the impacted teeth.

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NEUROD1 Mutation in an Italian Patient With Maturity Onset Diabetes of the Young 6: a Case Report

10.21203/rs.3.rs-145066/v1 ◽

2021 ◽

Author(s):

Lucia Brodosi ◽

Bianca Baracco ◽

Vilma Mantovani ◽

Loris Pironi

Keyword(s):

Case Report ◽

Beta Cells ◽

Early Onset ◽

Genetic Mutation ◽

Maturity Onset Diabetes ◽

Family History Of Diabetes ◽

Onset Diabetes ◽

Dominant Disease ◽

Recent Case Report ◽

Single Genetic Mutation

Abstract Background and Aims: maturity onset diabetes of the young (MODY) is a monogenic, autosomal, dominant disease characterized by a single genetic mutation that results in beta-cells disfunction with consequent hyperglycemia. It represents a rare form of diabetes (1-2% of all the cases). Sulphonylureas (SU) represent the first line treatment for this form of diabetic disease. NEUROD1 is a transcription factor expressed by pancreatic and nervous tissues that is necessary for a proper development of beta cells. A mutation of NEUROD1 gene has been found to cause beta-cells dysfunction, inadequate insulin secretion, and hyperglycemia (MODY 6). A recent case report has documented for the first time a new missense mutation (p.Met114Leu c.340A> C), of the NEUROD1 gene pathogenetic for diabetes mellitus.Methods and Results: We report the case of a 50 years-old man who presented the same mutation, and who was able to suspend rapid insulin after the diagnosis and treatment with SU. Interestingly, our patient had an early onset dilated cardiomyopathy but no other data about cardiac diseases in patients with MODY 6 are available.Conclusions: Diagnostic criteria for MODY can overlap with other kinds of diabetes and most cases are still misdiagnosed as diabetes type 1 or 2. The disease should be suspected in patients with a strong family history of diabetes, normal BMI, early onset and no autoimmunity.

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