scholarly journals Hyperphosphatemic Familial Tumoral Calcinosis Hidden in Plain Sight for 73 Years: A Case Report

2021 ◽  
Vol 2 ◽  
Author(s):  
Alisa E. Lee ◽  
Iris R. Hartley ◽  
Kelly L. Roszko ◽  
Chaim Vanek ◽  
Rachel I. Gafni ◽  
...  
Keyword(s):  
Dental Pulp ◽  
Incidental Findings ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Mineral Metabolism ◽  
Rare Condition ◽  
Tumoral Calcinosis ◽  
Dental Radiographs ◽  
Hyperphosphatemic Familial Tumoral Calcinosis ◽  
Pulp Calcification

While dental pulp calcifications and root anomalies may be inconsequential incidental findings in dental radiographs, they can, especially in combination, represent a clue, hidden in plain sight, for the diagnosis of hyperphosphatemic familial tumoral calcinosis (HFTC). HFTC is an autosomal recessive disease of mineral metabolism characterized by sometimes massive, painful calcification around large joints, systemic inflammation, dental pulp calcification, and thistle-shaped roots. This paper describes a woman with HFTC who endured not only the symptoms of HFTC for decades, but also the frustration of not knowing the cause. The diagnosis was finally made at the age of 73 years, when the connection between a large right shoulder calcification and hyperphosphatemia was made. The dental findings were likely present on her initial radiographs taken in childhood. Increased awareness of the association between characteristic dental findings and HFTC may allow for earlier diagnosis and interventions to improve the care of patients with this rare condition.

scholarly journals Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)

2015 ◽  
Vol 120 (6) ◽  
pp. e235-e239 ◽  
Author(s):  
Alexandre R. Vieira ◽  
Moses Lee ◽  
Filippo Vairo ◽  
Julio Cesar Loguercio Leite ◽  
Maria Cristina Munerato ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Tumoral Calcinosis ◽  
Hyperphosphatemic Familial Tumoral Calcinosis

scholarly journals Pulmonary Alveolar Microlithiasis(PAM)

2016 ◽  
Vol 27 (2) ◽  
pp. 40-43
Author(s):  
Devendra Nath Sarkar ◽  
Md Ismail Hossain ◽  
Md Mahmudul Haque ◽  
AKM Zahin ◽  
Md Shahin Miah ◽  
...  
Keyword(s):  
Chest Radiograph ◽  
Lung Biopsy ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Laboratory Finding ◽  
Rare Condition ◽  
Definitive Treatment ◽  
Alveolar Microlithiasis ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

PAM is a rare parenchymal Lung disease. Very few case report are available about PAM in Bangladesh. It is diagnosed incidentally during chest radiograph. It is a autosomal recessive disease and is associated with sporadic or familial mutation of SLC 34A2 gene. Many patients are asymptomatic and have either normal or restrictive pulmonary function. Some patients remain static and others progress into pulmonary dysfunction, respiratory failure and corpulmonale. The disease is usually discovered up to 40 years and there is no definitive treatment of this disease. Chest radiograph, HRCT used lung biopsy (transbronchial or open) are the main investigations. This patient come with chest pain and dyspnoea on exertion and nonproductive cough and diagnosed as PAM incidentally during chest radiograph. On the basis of clinical features and laboratory finding, we diagnosed him a case of PAM a very rare condition. As there is no definitive treatment, we treat himsymptomatically.Medicine Today 2015 Vol.27(2): 40-43

The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition

2021 ◽  
Vol 5 (2) ◽  
pp. 132-135
Author(s):  
Samuel Pecho-Silva ◽  
Ana C. Navarro-Solsol
Keyword(s):  
Lung Function ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Human Gene ◽  
Regulatory Gene ◽  
Rare Condition ◽  
Review Of The Literature ◽  
Transmembrane Conductance ◽  
Mutation Database ◽  
Clinical Consequences

CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function and provide a review of the literature.

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

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.

scholarly journals Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

2020 ◽  
Vol 09 (04) ◽  
pp. 285-288
Author(s):  
Mervan Bekdas ◽  
Guray Can ◽  
Recep Eroz ◽  
Selma Erdogan Duzcu
Keyword(s):  
Intrahepatic Cholestasis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Bile Secretion ◽  
Peripheral Blood Sample ◽  
Portal Fibrosis ◽  
Traditional Treatment ◽  
Pathogenic Variants ◽  
Chronic Cholestasis ◽  
Whole Exome

AbstractProgressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in the ABCB11 gene and a c.208G> A/p.Asp70Asn variant in the ATP8B1 gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.

Zinc and Acrodermatitis Enteropathica

1980 ◽  
Vol 2 (3) ◽  
pp. 88-94
Keyword(s):  
Zinc Deficiency ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Autosomal Recessive Disease ◽  
Dna Polymerases ◽  
Clinical Manifestations ◽  
Acrodermatitis Enteropathica ◽  
Nucleic Acid Metabolism ◽  
Zinc Metalloenzymes ◽  
Rna And Dna

Mammalian zinc metalloenzymes include alkaline phosphatase. Zinc plays a crucial role in nucleic acid metabolism. RNA and DNA polymerases and thymidine kinase are zinc-dependent enzymes. Zinc deficiency in North America is most clearly seen in the disease acrodermatitis enteropathica. This is an autosomal recessive disease due to a zinc metabolic error—not well defined—which leads to zinc deficiency. Clinical manifestations include a rash around orifices, alopecia, and diarrhea. The laboratory can demonstrate hypozincemia and hypozincuria. Clinical and biochemical remission occurs with oral zinc administration.(R.H.R.)

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

2021 ◽  
Vol 14 (10) ◽  
pp. e244641
Author(s):  
Petya Bogdanova-Mihaylova ◽  
Patricia McNamara ◽  
Sarah Burton-Jones ◽  
Sinéad M Murphy
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Rare Condition ◽  
Compound Heterozygous ◽  
Sensorimotor Neuropathy ◽  
Autosomal Recessive Condition ◽  
Solute Carrier ◽  
Compound Heterozygous Mutations ◽  
Clinical Phenotyping

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in SLC12A6 (solute carrier family 12, member 6) encoding the K+–Cl- transporter KCC3 have been identified as the genetic cause of HMSN/ACC. We describe fraternal twins with compound heterozygous mutations in SLC12A6 and much milder phenotype than usually described. Neither of our patients requires assistance to walk. The female twin is still running and has a normal intellect. Charcot-Marie-Tooth Examination Score 2 was 8/28 in the brother and 5/28 in the sister. Neurophysiology demonstrated a length-dependent sensorimotor neuropathy. MRI brain showed normal corpus callosum. Genetic analysis revealed compound heterozygous mutations in SLC12A6, including a whole gene deletion. These cases expand the clinical and genetic phenotype of this rare condition and highlight the importance of careful clinical phenotyping.

scholarly journals Afibrinogenemia

Pulse ◽  
2011 ◽  
Vol 4 (1) ◽  
pp. 34-35
Author(s):  
Tahera Nazrin ◽  
Pinkoo Attawar ◽  
Md Moniruzzaman ◽  
I Islam
Keyword(s):  
Interventional Procedures ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Management Plan ◽  
Rare Disorder ◽  
Minor Trauma ◽  
Chromosome 4 ◽  
Spontaneous Bleeding ◽  
Excessive Bleeding ◽  
Polypeptide Chains

Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:10,00,000 [1, 2]. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encodes the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4 3. Spontaneous bleeding, bleeding after minor trauma, and excessive bleeding during interventional procedures are the principal manifestations [2, 4]. Here we have reviewed the process of diagnosing a case of such rare disorder in Apollo Hospitals Dhaka. We have also highlighted the treatment and management plan of such a case.DOI: http://dx.doi.org/10.3329/pulse.v4i1.6964Pulse Vol.4 January 2010 p.34-35

scholarly journals Medulloblastoma in Adulthood

2021 ◽  
Vol 26 (3) ◽  
pp. 52-54
Author(s):  
Dragoş Horşia
Keyword(s):  
Genetic Factor ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Histopathological Examination ◽  
Intracranial Tumours ◽  
Harvey Cushing ◽  
Tumour Formation ◽  
Childhood Medulloblastoma ◽  
Patient’S History ◽  
Malignancy Potential

Abstract Defined as a tumour with increased malignancy potential in childhood, medulloblastoma was first reported in the literature by Percival Bailey and Harvey Cushing in 1925. Scientific studies over the years have shown that this type of tumour represents about 20% of all intracranial tumours encountered in childhood, their percentage decreasing with advancing age. The genetic factor plays an important part in the appearance of medulloblastoma; there are certain diseases, in the patient’s history, that can be associated with this type of tumour. Here, we can specify Turcot syndrome (an autosomal recessive disease, rarely encountered) or basal cell carcinoma syndrome. This article presents the case of a young patient (41-year-old) suffering from a cerebellar tumour formation that turned out to be, after histopathological examination, a medulloblastoma. In practice we can find several types of medulloblastoma (desmoplastic or nodular, anaplastic, classical or undifferentiated). In what follows I will try to highlight a few aspects of a classic medulloblastoma.

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