Progeria : Pathogenesis and Oral Manifestation- A Review

Our life span is genetically programmed and it is possible that a defect in produced proteins encoded by the ‘longevity’ gene is a cause of aging. Progeria which is a rare, fatal genetic condition which affects between one in four million and one in eight million children of both sexes equally and characterized by premature and accelerated aging. The appearance and physiology of these children resembles to elderly people but they typically have life span to their mid teens. It is also known as the Hutchinson-Gilford syndrome, which was initially reported by Johnathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. It is an autosomal recessive disorder, which means an individual has inherited a mutated gene from both parents. It is added to the expanding catalogue of ‘laminopathies’, diseases caused by mutations affecting nuclear lamina proteins known as lamin A (LMNA). In oral manifestation primary finding is micrognathia with delayed tooth eruption and incomplete formation of root of permanent tooth. Presently there are no known cures for this abnormality. KATHMANDU UNIVERSITY MEDICAL JOURNAL VOL.10 | NO. 1 | ISSUE 37 | JAN - MAR 2012 | 72-76 DOI: http://dx.doi.org/10.3126/kumj.v10i1.6919

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McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes

Obstetric Medicine ◽

10.1177/1753495x211016159 ◽

2021 ◽

pp. 1753495X2110161

Author(s):

Christopher M Nash ◽

Nabha Shetty ◽

Ashley Miller ◽

Kyle McCoy

Keyword(s):

Scoping Review ◽

Pregnancy Outcomes ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Glycogen Metabolism ◽

Limited Data ◽

Genetic Condition ◽

Second Stage ◽

Mcardle Disease ◽

Pregnancy And Delivery

McArdle disease is an autosomal recessive disorder affecting skeletal muscle glycogen metabolism. Limited data are available regarding pregnancy outcomes with this genetic condition. We present a recent case of a woman with McArdle disease, along with a scoping review of all published literature regarding pregnancy and delivery outcomes for women with McArdle disease. A total of 35 cases are summarised. Overall, pregnancy does not worsen or increase the risk for disease flare. Women can successfully deliver vaginally, with consideration of an assisted second stage recommended to reduce the risk of postpartum rhabdomyolysis.

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The management of laryngeal lipoid proteinosis

The Journal of Laryngology & Otology ◽

10.1017/s0022215118001329 ◽

2018 ◽

Vol 132 (10) ◽

pp. 936-939

Author(s):

M Ally ◽

A J Kinshuck ◽

A Sandison ◽

G S Sandhu

Keyword(s):

Autosomal Recessive ◽

Matrix Protein ◽

Symptom Control ◽

Autosomal Recessive Disorder ◽

Mucosal Injury ◽

Extracellular Matrix Protein ◽

Genetic Condition ◽

Lipoid Proteinosis ◽

Extracellular Matrix Protein 1 ◽

Pot Technique

AbstractBackgroundLipoid proteinosis is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene. It is characterised by deposition of hyaline material in the skin and mucous membranes. This paper describes the management of two cases with laryngopharyngeal disease.MethodsTwo patients with a biopsy diagnosis of lipoid proteinosis were identified from the surgical pathology archive covering the period 2004–2016. Their notes were reviewed.ResultsAn adult male and an adult female were identified. Both had dysphonia and laryngopharyngeal lesions. The patients underwent interval laser microlaryngoscopy to debulk disease but minimise mucosal injury and scarring, using a ‘pepper pot’ technique. Both had adequate symptom control.ConclusionLipoid proteinosis is a rare genetic condition, which typically presents in infancy with dysphonia and subsequent skin involvement. Two cases are presented to demonstrate that laryngotracheal symptoms can be controlled with interval laser debulking and the ‘pepper pot’ technique without causing stenosis.

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Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

Journal of Pediatric Genetics ◽

10.1055/s-0040-1721826 ◽

2021 ◽

Author(s):

Davor Petrović ◽

Vida Čulić ◽

Zofia Swinderek-Alsayed

Keyword(s):

Low Income ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Joubert Syndrome ◽

Interesting Case ◽

Low Income Countries ◽

Ocular Motor ◽

Quality Health Care ◽

Quality Health ◽

Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

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A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

Journal of Pediatric Genetics ◽

10.1055/s-0040-1719161 ◽

2020 ◽

Author(s):

Hasan Akduman ◽

Dilek Dilli ◽

Serdar Ceylaner

Keyword(s):

Mutation Analysis ◽

Autosomal Recessive ◽

Glucose Transporter ◽

Neonatal Period ◽

Autosomal Recessive Disorder ◽

Homozygous Mutation ◽

New Mutation ◽

Early Neonatal Period ◽

Sodium Dependent ◽

Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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Papillon-Lefevre Syndrome: Challenge for Periodontal Management

Journal of Nepalese Society of Periodontology and Oral Implantology ◽

10.3126/jnspoi.v3i2.30891 ◽

2019 ◽

Vol 3 (2) ◽

pp. 84-86

Author(s):

Krishna Prasad Lamichhane ◽

Shaili Pradhan ◽

Ranjita Shreshta Gorkhali ◽

Pramod Kumar Koirala

Keyword(s):

Significant Role ◽

Autosomal Recessive ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Genetic Mutations ◽

Rare Autosomal Recessive Disorder ◽

Diagnosis And Management ◽

Periodontal Destruction ◽

Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

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Periodontal Manifestations in a Patient with Haim-Munk Syndrome

European Journal of Dentistry ◽

10.1055/s-0039-1697849 ◽

2010 ◽

Vol 04 (03) ◽

pp. 338-340

Author(s):

Kamile Erciyas ◽

Serhat Inaloz ◽

A. Fuat Erciyas

Keyword(s):

Autosomal Recessive ◽

Alveolar Bone ◽

Bone Destruction ◽

Autosomal Recessive Disorder ◽

Aggressive Periodontitis ◽

Pes Planus ◽

Rare Autosomal Recessive Disorder ◽

Rare Anomaly ◽

Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

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Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

Cardiology in the Young ◽

10.1017/s1047951120004953 ◽

2021 ◽

pp. 1-3

Author(s):

Priyanka Prasanna ◽

Chenni S. Sriram ◽

Sarah H. Rodriguez ◽

Utkarsh Kohli

Keyword(s):

Autosomal Recessive ◽

Ventricular Dysfunction ◽

Clinical Presentation ◽

Clinical Course ◽

Rare Condition ◽

Autosomal Recessive Disorder ◽

Left Ventricular ◽

Type I ◽

Neonatal Onset ◽

Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

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Neuropathological Alzheimer’s Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes

Journal of Alzheimer s Disease ◽

10.3233/jad-201085 ◽

2021 ◽

Vol 79 (1) ◽

pp. 25-30

Author(s):

Emanuela Maderna ◽

Silvia Visonà ◽

Vittorio Bolcato ◽

Veronica Redaelli ◽

Paola Caroppo ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Autosomal Recessive ◽

Cerebral Atrophy ◽

Autosomal Recessive Disorder ◽

Homozygous Mutation ◽

Neurofibrillary Changes ◽

Axonal Spheroids ◽

Temporal Structures ◽

Cortical Involvement

Nasu-Hakola disease is a rare autosomal recessive disorder associated to mutations in TREM2 and DAP12 genes, neuropathologically characterized by leukoencephalopathy with axonal spheroids. We report the neuropathologic findings of a 51-year-old female with a homozygous mutation (Q33X) of TREM2 gene. Beside severe cerebral atrophy and hallmarks of Nasu-Hakola disease, significant Alzheimer’s disease lesions were present. Neurofibrillary changes showed an atypical topographic distribution being severe at spots in the neocortex while sparing the mesial temporal structures. Our finding suggests that TREM2 genetic defects may favor Alzheimer’s disease pathology with neurofibrillary changes not following the hierarchical staging of cortical involvement identified by Braak.

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Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

BMC Musculoskeletal Disorders ◽

10.1186/s12891-020-03890-2 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Samina Yasin ◽

Outi Makitie ◽

Sadaf Naz

Keyword(s):

Short Stature ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Loss Of Function ◽

Case Presentation ◽

Pathogenic Variants ◽

Skeletal Malformations ◽

Tarsal Bones ◽

The Family ◽

Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

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