Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

AbstractRoberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare ESCO2 variant. The patient manifested a broad range of clinical findings including the significant, bilateral shortening of the extremities. He deteriorated and passed away at 20 days of age. High-resolution GTG-banded karyotype showed lack of centromeric constriction in some chromosomes, premature centromere separation in others, and repulsion of the heterochromatin regions. Molecular analysis of the ESCO2 gene revealed a deletion of 4 bp involving exon 4 in homozygosity (NM_00107420.2:c.875_878delACAG), which causes loss of ESCO2 function. We describe the clinical presentation caused by a rare ESCO2 variant.

Download Full-text

Jugular Bulb Diverticula: Clinical and Radiologic Aspects

Otolaryngology ◽

10.1067/mhn.2003.32 ◽

2003 ◽

Vol 128 (3) ◽

pp. 382-386 ◽

Cited By ~ 28

Author(s):

Cem Bilgen ◽

Tayfun Kirazli ◽

Fatih Ogut ◽

Secil Totan

Keyword(s):

High Resolution ◽

Clinical Presentation ◽

Clinical Symptoms ◽

Jugular Bulb ◽

Clinical Findings ◽

The Other ◽

Reference Line ◽

Ct Scans ◽

Number Of Patients ◽

Axial Ct

OBJECTIVE: This study was performed to determine the clinical presentation of jugular diverticulum and its relevance with the extension of the lesion. STUDY DESIGN: The records and high-resolution CT scans of 1474 patients, with otologic symptoms or related clinical findings, were evaluated retrospectively. In 17 cases in which CT scans revealed the presence of jugular diverticulum, sensorineural symptoms were evaluated with respect to a reference line, perpendicular to the basal turn of the cochlea and tangent to the vestibule in axial CT scan images. RESULTS: When the extension of jugular diverticulum was posterior to the reference line, sensorineural symptoms with vertigo were dominant in most patients (72.7%) in this group. On the other hand, for the patients with anterior-extending jugular diverticulum, sensorineural symptoms without vertigo were detected in 50% of patients, whereas 33.3% had sensorineural symptoms with vertigo. CONCLUSION: This study revealed a relationship between the extension of jugular diverticulum and clinical symptoms. However, this relationship lacks statistical evidence because of the limited number of patients.

Download Full-text

Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepancy

Balkan Journal of Medical Genetics ◽

10.2478/v10034-008-0003-3 ◽

2007 ◽

Vol 10 (2) ◽

pp. 23-28 ◽

Cited By ~ 1

Author(s):

V Anastasovska ◽

M Kocova

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Molecular Analysis ◽

Autosomal Recessive ◽

Clinical Presentation ◽

Autosomal Recessive Disease ◽

Adrenal Hyperplasia ◽

Cyp21 Gene ◽

Exon 1 ◽

Variable Clinical Presentation ◽

Gene Exon

Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype DiscrepancyCongenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a variable clinical presentation caused by a spectrum of different mutations. A significant association of genotype with phenotype has been reported.The molecular analysis of a girl with a mild form of CAH presenting with precocious pubarche, confirmed that she was heterozygous for two mutations of the CYP21 gene (exon 1, codon 30/exon 8, codon 318). Her mother was homozygous for the codon 30 mutation and her father was homozygous for the codon 318 mutation. The only anomaly in the parents was a difficulty in conceiving. The molecular analysis of this family confirmed the variability of presentation in carriers of different mutations, which caused difficulties in decisions about the timing of therapy and in genetic counseling.

Download Full-text

Computer-Aided Diagnosis in Jaundice: Comparison of Knowledge-based and Probabilistic Approaches

Methods of Information in Medicine ◽

10.1055/s-0038-1634634 ◽

1996 ◽

Vol 35 (01) ◽

pp. 41-51 ◽

Cited By ~ 3

Author(s):

F. Molino ◽

D. Furia ◽

F. Bar ◽

S. Battista ◽

N. Cappello ◽

...

Keyword(s):

Clinical Presentation ◽

Clinical Information ◽

Diagnostic Value ◽

Clinical Findings ◽

Clinical Documentation ◽

Data Set ◽

Knowledge Based ◽

Number Of Patients ◽

Support Tools ◽

Aided Diagnosis

AbstractThe study reported in this paper is aimed at evaluating the effectiveness of a knowledge-based expert system (ICTERUS) in diagnosing jaundiced patients, compared with a statistical system based on probabilistic concepts (TRIAL). The performances of both systems have been evaluated using the same set of data in the same number of patients. Both systems are spin-off products of the European project Euricterus, an EC-COMACBME Project designed to document the occurrence and diagnostic value of clinical findings in the clinical presentation of jaundice in Europe, and have been developed as decision-making tools for the identification of the cause of jaundice based only on clinical information and routine investigations. Two groups of jaundiced patients were studied, including 500 (retrospective sample) and 100 (prospective sample) subjects, respectively. All patients were independently submitted to both decision-support tools. The input of both systems was the data set agreed within the Euricterus Project. The performances of both systems were evaluated with respect to the reference diagnoses provided by experts on the basis of the full clinical documentation. Results indicate that both systems are clinically reliable, although the diagnostic prediction provided by the knowledge-based approach is slightly better.

Download Full-text

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.

Download Full-text

Atypical Clinical Presentation of Laryngopharyngeal Reflux: A 5-Year Case Series

Journal of Clinical Medicine ◽

10.3390/jcm10112439 ◽

2021 ◽

Vol 10 (11) ◽

pp. 2439

Author(s):

Jerome R. Lechien ◽

Stéphane Hans ◽

Francois Bobin ◽

Christian Calvo-Henriquez ◽

Sven Saussez ◽

...

Keyword(s):

Clinical Presentation ◽

Laryngopharyngeal Reflux ◽

Case Series ◽

Clinical Findings ◽

Aerodigestive Tract ◽

Common Disease ◽

Upper Aerodigestive Tract ◽

Suppurative Otitis Media ◽

Adequate Treatment ◽

Atypical Clinical Presentation

Background: Laryngopharyngeal reflux (LPR) is a common disease in otolaryngology characterized by an inflammatory reaction of the mucosa of the upper aerodigestive tract caused by digestive refluxate enzymes. LPR has been identified as the etiological or favoring factor of laryngeal, oral, sinonasal, or otological diseases. In this case series, we reported the atypical clinical presentation of LPR in patients presenting in our clinic with reflux. Methods: A retrospective medical chart review of 351 patients with LPR treated in the European Reflux Clinic in Brussels, Poitiers and Paris was performed. In order to be included, patients had to report an atypical clinical presentation of LPR, consisting of symptoms or findings that are not described in the reflux symptom score and reflux sign assessment. The LPR diagnosis was confirmed with a 24 h hypopharyngeal-esophageal impedance pH study, and patients were treated with a combination of diet, proton pump inhibitors, and alginates. The atypical symptoms or findings had to be resolved from pre- to posttreatment. Results: From 2017 to 2021, 21 patients with atypical LPR were treated in our center. The clinical presentation consisted of recurrent aphthosis or burning mouth (N = 9), recurrent burps and abdominal disorders (N = 2), posterior nasal obstruction (N = 2), recurrent acute suppurative otitis media (N = 2), severe vocal fold dysplasia (N = 2), and recurrent acute rhinopharyngitis (N = 1), tearing (N = 1), aspirations (N = 1), or tracheobronchitis (N = 1). Abnormal upper aerodigestive tract reflux events were identified in all of these patients. Atypical clinical findings resolved and did not recur after an adequate antireflux treatment. Conclusion: LPR may present with various clinical presentations, including mouth, eye, tracheobronchial, nasal, or laryngeal findings, which may all regress with adequate treatment. Future studies are needed to better specify the relationship between LPR and these atypical findings through analyses identifying gastroduodenal enzymes in the inflamed tissue.

Download Full-text

Fatal Subacute Hepatic Failure in a Patient with AA-Type Amyloidosis: Case Report

Pathology Research International ◽

10.4061/2010/648089 ◽

2010 ◽

Vol 2010 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

Ibrahim Altraif ◽

Fayaz A. Handoo ◽

Khaled O. Alsaad ◽

Adel Gublan

Keyword(s):

Alkaline Phosphatase ◽

Case Report ◽

Hepatic Failure ◽

Clinical Presentation ◽

Clinical Course ◽

Clinical Findings ◽

Systemic Amyloidosis ◽

Hepatic Involvement ◽

Reactive Amyloidosis ◽

Hepatic Amyloidosis

Although systemic amyloidosis of amyloid-associated protein (AA) type (secondary or reactive amyloidosis) frequently involves the liver, it rarely causes clinically apparent liver disease. Mild elevation of alkaline phosphatase and hepatomegaly are the most common biochemical and clinical findings, respectively. We report a case of systemic amyloidosis of AA type, which clinically presented as subacute hepatic failure and resulted in a fatal clinical course in a 69-year-old man. To the best of our knowledge, this is the fifth case of hepatic amyloidosis of AA type that clinically presented as fatal subacute hepatic failure, an unusual clinical presentation for hepatic involvement by systemic AA-type amyloid.

Download Full-text

Siblings with Bardet Beidl Syndrome

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v33i3.8081 ◽

2013 ◽

Vol 33 (3) ◽

pp. 236-238

Author(s):

Ram Peter ◽

Priya Jose ◽

MNG Nair

Keyword(s):

Clinical Features ◽

Autosomal Recessive ◽

Clinical Presentation ◽

The Body ◽

Bardet Biedl Syndrome ◽

Recessive Condition ◽

Autosomal Recessive Condition

Bardet Biedl syndrome is an autosomal recessive condition affecting many parts of the body. Incidence of BBS is 1 in 100000. Its clinical features varies in person to person though from same family too. We are reporting two siblings with Bardet Beidl syndrome with different clinical presentation. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8081 J. Nepal Paediatr. Soc. 2013;33(3):236-238

Download Full-text

Ellis-van Creveld Syndrome and Dyserythropoiesis

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-0680-ecsad ◽

2005 ◽

Vol 129 (5) ◽

pp. 680-682 ◽

Cited By ~ 1

Author(s):

Deven Scurlock ◽

Daniel Ostler ◽

Andy Nguyen ◽

Amer Wahed

Keyword(s):

Myelodysplastic Syndrome ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Case Reports ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Clinical Findings ◽

Cardiac Defects ◽

Ellis Van Creveld Syndrome ◽

Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

Download Full-text

High-resolution computed tomography and histopathological findings in hypersensitivity pneumonitis: a pictorial essay

Radiologia Brasileira ◽

10.1590/0100-3984.2014.0062 ◽

2016 ◽

Vol 49 (2) ◽

pp. 112-116 ◽

Cited By ~ 9

Author(s):

Pedro Paulo Teixeira e Silva Torres ◽

Marise Amaral Rebouças Moreira ◽

Daniela Graner Schuwartz Tannus Silva ◽

Roberta Rodrigues Monteiro da Gama ◽

Denis Masashi Sugita ◽

...

Keyword(s):

Computed Tomography ◽

High Resolution ◽

Lung Biopsy ◽

Hypersensitivity Pneumonitis ◽

Giant Cells ◽

Clinical Findings ◽

High Resolution Computed Tomography ◽

Histopathological Findings ◽

Pictorial Essay ◽

Inflammatory Infiltrates

Abstract Hypersensitivity pneumonitis is a diffuse interstitial and granulomatous lung disease caused by the inhalation of any one of a number of antigens. The objective of this study was to illustrate the spectrum of abnormalities in high-resolution computed tomography and histopathological findings related to hypersensitivity pneumonitis. We retrospectively evaluated patients who had been diagnosed with hypersensitivity pneumonitis (on the basis of clinical-radiological or clinical-radiological-pathological correlations) and had undergone lung biopsy. Hypersensitivity pneumonitis is clinically divided into acute, subacute, and chronic forms; high-resolution computed tomography findings correlate with the time of exposure; and the two occasionally overlap. In the subacute form, centrilobular micronodules, ground-glass opacities, and air trapping are characteristic high-resolution computed tomography findings, whereas histopathology shows lymphocytic inflammatory infiltrates, bronchiolitis, variable degrees of organizing pneumonia, and giant cells. In the chronic form, high-resolution computed tomography shows traction bronchiectasis, honeycombing, and lung fibrosis, the last also being seen in the biopsy sample. A definitive diagnosis of hypersensitivity pneumonitis can be made only through a multidisciplinary approach, by correlating clinical findings, exposure history, high-resolution computed tomography findings, and lung biopsy findings.

Download Full-text

Urinary Retention Due to Severe Pseudocystic Mucoid Degeneration of the Prostatic Matrix: A Rare Urologic Manifestation of Cystic Fibrosis

Urologia Internationalis ◽

10.1159/000368911 ◽

2015 ◽

Vol 95 (4) ◽

pp. 486-488

Author(s):

Gesa Kellermann ◽

Aristotelis G. Anastasiadis ◽

Desirée L. Dräger ◽

Friedrich Prall ◽

Oliver W. Hakenberg

Keyword(s):

Cystic Fibrosis ◽

Urinary Retention ◽

Genetic Disease ◽

Autosomal Recessive ◽

Structural Changes ◽

Histopathological Examination ◽

Underlying Disease ◽

Exocrine Glands ◽

Mucoid Degeneration ◽

Prostatic Enlargement

Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is characterized by the production of thick mucus in exocrine glands. The main cause for morbidity and mortality in CF patients is respiratory failure. The gastrointestinal system is also commonly affected. Urologic manifestations of CF include infertility and azoospermia, nephrolithiasis, and stress urinary incontinence. In this report, we describe a 33-year-old male, who presented with recurrent urinary retention due to prostatic enlargement despite his young age. After transurethral resection, the voiding problems resolved. Histopathological examination, however, revealed a severe pseudocystic mucoid degeneration of the prostatic matrix as a cause of his subvesical obstruction. Although these structural changes are most probably due to his underlying disease, detailed histologic features have not been described in the literature.

Download Full-text