scholarly journals Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review

2018 ◽  
Vol 9 ◽  
pp. 215265671880490
Author(s):  
Megan E. Falls ◽  
Michael P. Rabinowitz ◽  
Jacqueline R. Carrasco ◽  
Mindy R. Rabinowitz
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Ambiguous Genitalia ◽  
Endoscopic Management ◽  
Endoscopic Endonasal ◽  
Fraser Syndrome ◽  
Lacrimal System

Background Fraser syndrome is an autosomal recessive disorder characterized primarily by syndactyly, cryptophthalmos, urinary tract anomalies, ambiguous genitalia, and laryngeal anomalies. A 28-year-old man with Fraser syndrome presented with cryptophthalmos, microphthalmia, lacrimal system dysgenesis, and chronic sinusitis. Objective The patients’ clinical condition and surgical treatment are described. A literature review was conducted, and articles relevant to the case are presented. Methods Case report. Results To our knowledge, this is the first published case report of endonasal management of dacryocystoceles in a Fraser syndrome patient. The patient was treated via endoscopic endonasal marsupialization and drainage. Conclusion Fraser syndrome patients may initially present to many different specialties as the spectrum of clinical manifestations is broad. Physicians treating these patients should take a collaborative approach to surgical and medical management.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

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.

A Normal SRY-Gene in a 46XX, 6-Year -Old With Ambiguous Genitalia: Case Report and Literature Review

2011 ◽  
Vol 24 (2) ◽  
pp. e52-e53
Author(s):  
Isiah D. Harris ◽  
Lauren Ross ◽  
Kara Brinker ◽  
Johanne Python ◽  
Lauren Roth ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Ambiguous Genitalia ◽  
Sry Gene

Epidermoid brain cysts: a case report and a literature review

2021 ◽  
pp. 358-371
Author(s):  
Maksim Vladimirovich Shpagin ◽  
Anton Viktorovich Yarikov ◽  
Denis Nikolaevich Nikitin ◽  
Igor Anatolievich Lobanov ◽  
Ivan Aleksandrovich Laganin ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Cerebellopontine Angle ◽  
Clinical Manifestations ◽  
Complex Treatment ◽  
Brain Pathology ◽  
Epidermoid Cysts ◽  
Histological Picture ◽  
Clinical Observations ◽  
Brain Cysts

The article is devoted to rare brain pathology, i.e. epidermoid cysts. The histological picture of the tumor is described; the classification is given. On the basis of our own clinical observations and a literature review, the features of the clinical manifestations of cholesteatoma of the cerebellopontine angle, modern approaches to the diagnosis and tactics of complex treatment are presented.

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
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.

Endoscopic endonasal resection of clival xanthoma: case report and literature review

2015 ◽  
Vol 38 (4) ◽  
pp. 765-769
Author(s):  
Laura González-García ◽  
Beatriz Asenjo-García ◽  
María Dolores Bautista-Ojeda ◽  
Miguel Domínguez-Páez ◽  
Lorena Romero-Moreno ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Endoscopic Endonasal

scholarly journals Ornidazole-Induced Recurrent Encephalopathy in a Chinese Man: A Rare Case Report and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Rong Tang ◽  
Jia Liang ◽  
Yuanfang Li ◽  
Tingting Wu ◽  
Yuhao Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Corpus Callosum ◽  
Cerebellar Ataxia ◽  
Drug Withdrawal ◽  
Clinical Manifestations ◽  
Good Prognosis ◽  
Drug Discontinuation ◽  
Imaging Features ◽  
Mental Symptoms

Ornidazole-induced encephalopathy (OIE) is seldom seen in the clinic. In this study, we report a new case of a patient who had taken 1,000 mg ornidazole daily for nearly 4 years because of suspected diarrhea and proctitis and presented with subacute symptoms such as unsteady gait, slurred speech, and psychiatric disorder. These symptoms were significantly relieved 3 days after the patient stopped taking ornidazole. When he took this medicine again, however, similar symptoms occurred 4 months later, which were again reduced after 4 days of drug discontinuation. After the second onset, abnormal signals were identified around the aqueduct of the midbrain, around the fourth ventricle, and in the dentate nuclei of the cerebellum bilaterally. After 9 days of drug discontinuation, lesions disappeared in the magnetic resonance imaging (MRI) results. According to the clinical manifestations, imaging features, and the reduced symptoms after drug withdrawal, we clinically diagnosed the patient with OIE. This paper also reviews the literature on OIE. Only five cases (including our case) have been reported, all of whom presented with cerebellar ataxia and dysarthria and three with additional mental symptoms such as agitation and irritability. All five patients had abnormal lesions in the dentate nucleus of the cerebellum bilaterally, among whom four also had lesions in the corpus callosum and three around the periaqueduct of the midbrain. After withdrawal of ornidazole, the symptoms in all patients vanished or were alleviated, and three of them showed reduced or disappeared lesions in a head MRI reexamination. Overall, OIE has rarely been reported. Our case report and literature review show that the lesions in the cerebellum, corpus callosum, and brainstem can be reversed. The main manifestations of the lesions—cerebellar ataxia, dysarthria, and mental symptoms—quickly weaken or disappear after drug withdrawal, with good prognosis. Nevertheless, clear pathogenesis has yet to be further investigated.

scholarly journals Arthritis in children with LRBA deficiency – case report and literature review

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Rotem Semo Oz ◽  
Melissa S. Tesher
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rheumatic Disease ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Immune Dysregulation ◽  
Joint Involvement ◽  
Female Ratio ◽  
Minimal Data ◽  
Lrba Deficiency

Abstract Background Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation, enteropathy and recurrent infections. The association between rheumatic disease and CVID generally has been well established, arthritis has been less frequently reported and minimal data regarding its clinical features and characteristic in LRBA deficiency has been published. This case report and literature review evaluates the characteristics and features of arthritis in LRBA deficiency patients. Case presentation and review results Herein, we describe a unique case of LRBA deficiency first presented with poly articular arthritis. Alongside the report, a literature review focusing on LRBA deficiency, rheumatic disease and arthritis has been conducted. We reviewed 43 publications. Among these, 7 patients were identified with arthritis. Age of first presentation was six weeks to 3 years. Male to female ratio was 4/3. Two patients were diagnosed with polyarticular Juvenile idiopathic arthritis (JIA) and three with oligoarticular JIA. Each patient was found to have different genomic mutation. The treatment was diverse and included corticosteroids, cyclosporine, methotrexate, adalidumab and abatacept. Conclusion Joint involvement is variable in LRBA deficiency, hence it should always be kept in mind as a differential diagnosis for a patient with combination of juvenile arthritis and clinically atypical immune dysregulation and / or immunodeficiency.

scholarly journals Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Aisha Khoja ◽  
Mubassar Fida ◽  
Attiya Shaikh
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Bone Turnover ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Great Emphasis ◽  
Treatment Goals ◽  
Oral Complications ◽  
Characteristic Features ◽  
Insight Into

Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.

Beta-ketothiolase deficiency brought with lethargy: Case report

2011 ◽  
Vol 30 (10) ◽  
pp. 1724-1727 ◽  
Author(s):  
Vefik Arica ◽  
Secil Gunher Arica ◽  
Huseyin Dag ◽  
Hatice Onur ◽  
Ömer Obut ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Blood Glucose ◽  
Amino Acid ◽  
Ketone Body ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Branched Chain Amino Acid ◽  
Amino Acid Levels ◽  
Branched Chain

Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

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