scholarly journals Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Prathima Sreenivasan ◽  
Faizal C. Peedikayil ◽  
Sumal V. Raj ◽  
Manasa Anand Meundi
Keyword(s):  
Early Diagnosis ◽  
Rare Diseases ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Patient Reporting ◽  
Review Of The Literature ◽  
Diagnosis And Management

Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus) and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly). Early diagnosis and management of this condition is important to prevent facial deformities in the patient. Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. Here, we report a case of trismus pseudocamptodactyly syndrome in an eight-year-old boy with a brief review of the literature.

scholarly journals Grisel’s Syndrome in Children: Two Case Reports and Systematic Review of the Literature

2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Nicole Pini ◽  
Martina Ceccoli ◽  
Patrizia Bergonzini ◽  
Lorenzo Iughetti
Keyword(s):  
Systematic Review ◽  
Surgical Treatment ◽  
Conservative Treatment ◽  
Early Diagnosis ◽  
Head And Neck ◽  
Case Reports ◽  
Atlantoaxial Joint ◽  
Review Of The Literature ◽  
Grisel’S Syndrome

Background and Objective. Grisel’s syndrome is a rare syndrome characterized by nontraumatic rotatory subluxation of the atlantoaxial joint. It usually affects children and typically presents with torticollis after ear, nose, and throat (ENT) surgery or head and neck infections. In the pediatric literature, there is only a small amount of available data; moreover, no systematic review has been previously done with focus on the pediatric population. We report our experience of two cases, and we provide a systematic review on Grisel’s syndrome in children in order to offer a deeper insight about its clinical presentation, its current diagnosis, and principles of treatment. Case Reports and Review. We describe two boys of 9 and 8 years old, who developed atlantoaxial subluxation after adenoidectomy. Considering the early diagnosis, a conservative treatment was chosen, with no recurrence and no sequelae at follow-up. We identified 114 case reports, of which 90 describe children, for a total of 171 pediatric patients. Of the 154 cases in which cause was reported, 59.7% presented a head and neck infection and 35.7% had previous head and neck surgery. There is no sex prevalence (49.7% males versus 50.2% females). Mean delay in diagnosis is 33 days. Eight % of the patients had neurological impairment of the 165 cases which mentioned treatment, 96% underwent a conservative treatment, of whom the 8.8% recurred with the need of surgery. As a whole, 12% underwent surgery as a first- or second-line treatment. 3 6% of the patients whose follow-up was reported developed a sequela, minor limitation of neck movement being the most frequent. Conclusion. Grisel’s syndrome should be suspected in children with painful unresponsive torticollis following ENT procedures or head and neck inflammation. CT scan with 3D reconstruction is the gold standard for diagnosis, allowing the identification of the subluxation and the classification according to the Fielding–Hawkins grading system. Surgical treatment is indicated in case of high-grade instability or failure of conservative treatment. Review of the literature shows how early diagnosis based on clinical and radiological evaluation is crucial in order to avoid surgical treatment and neurologic sequelae.

scholarly journals Outcome of pregnancy following IVF/IUI complicated by ovarian torsion: case reports

2018 ◽  
Vol 7 (12) ◽  
pp. 5169
Author(s):  
Garima Sachdeva ◽  
Shalini Gainder
Keyword(s):  
Early Diagnosis ◽  
Intrauterine Insemination ◽  
Case Reports ◽  
Acute Onset ◽  
Ovarian Torsion ◽  
Delayed Presentation ◽  
Vitro Fertilization ◽  
Diagnosis And Management ◽  
First Case

Ovarian torsion though uncommon after in vitro fertilization (IVF)/ intrauterine insemination (IUI), but if not diagnosed early can lead to ischemic necrosis of the ovary. The reported incidence of ovarian torsion after IVF/IUI is 0.025-0.2% and is primarily attributed to controlled ovarian stimulation (COS). Here we present three case reports of ovarian torsion after IVF/IUI reported in a government hospital, India. The first case was referred to our institute after IVF with acute onset abdominal pain. Diagnosis of ovarian torsion was made. In this patient, ovaries could be salvaged by early diagnosis and intervention and she even delivered a 2.95 kg girl baby in the same pregnancy. The second case also followed IVF done in our institute and by early diagnosis and intervention, we could salvage the ovary. The third case followed IUI, but due to delayed presentation, the patient had to undergo ipsilateral salpingo-oopherectomy.  A total of 1562 IUI and 98 IVF were done at our institute last year, of which only one case each of IUI and IVF landed up in ovarian torsion. The significance of this article is to discuss the diagnosis and management of ovarian torsion and to reiterate the importance of early diagnosis and management.

scholarly journals A Tale of Two Cysts: Steatocystoma Multiplex and Eruptive Vellus Hair Cysts—Two Case Reports and a Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Rachel J. Waldemer-Streyer ◽  
Ellen Jacobsen
Keyword(s):  
Strong Evidence ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Case Reports ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Pilosebaceous Unit ◽  
Incision And Drainage ◽  
Steatocystoma Multiplex ◽  
Main Observation

Background. Steatocystoma multiplex (SM) and eruptive vellus hair cysts (EVHC) are uncommon benign tumors of the pilosebaceous unit. Both SM and EVHC are characterized by smooth, asymptomatic papules or nodules, most commonly presenting on the chest, limbs, and abdomen. Most cases of SM and EVHC are sporadic, although less common autosomal dominant inherited forms have been reported. Main Observation. In this report we present two cases of cutaneous cysts exhibiting characteristics of either SM or EVHC. Both patients presented with numerous 1-2 mm asymptomatic papules and responded well to surgical expression by incision and drainage (I&D). Conclusion. SM and EVHC are similar in clinical presentation and management. Previously reported “hybrid-type” tumors present strong evidence for a relationship between the two lesions pathologically. Due to potential similarity of EVHC and SM cyst contents, I&D and subsequent microscopic examination cannot definitely differentiate between EVHC, SM, and hybrid cysts.

scholarly journals Diagnosis and management of trigemino-cavernous fistulas: case reports and review of the literature

2014 ◽  
Vol 7 (1) ◽  
pp. 73-78 ◽  
Author(s):  
Timothy R Miller ◽  
Gaurav Jindal ◽  
Suyash Mohan ◽  
Manuel Fortes ◽  
Robert Hurst ◽  
...  
Keyword(s):  
Case Reports ◽  
Review Of The Literature ◽  
Diagnosis And Management

scholarly journals Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome

2015 ◽  
Vol 143 (1-2) ◽  
pp. 68-70 ◽  
Author(s):  
Dragoslava Djeric ◽  
Ljiljana Cvorovic ◽  
Srbislav Blazic
Keyword(s):  
Early Diagnosis ◽  
Temporal Bone ◽  
Multidisciplinary Team ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Crouzon Syndrome ◽  
Maxillary Hypoplasia ◽  
Mandibular Prognathism ◽  
Congenital Cholesteatoma ◽  
Diagnosis And Management

Introduction. Crouzon syndrome is an autosomal dominant genetic disease characterized by bicoronal craniosynostosis, exorbitism with hypertelorism, and maxillary hypoplasia with mandibular prognathism. Case Outline. We present the first reported case of Crouzon syndrome associated with a bilateral congenital cholesteatoma of the temporal bone and discuss about the potential pathogenesis. Conclusion. Early diagnosis and management are crucial to prevent complications and an otologist should be an integral part of the multidisciplinary team.

scholarly journals Hiperdontia em paciente portadora de displasia cleidocraniana, acompanhamento de 14 anos: relato de caso

2020 ◽  
Vol 9 (6) ◽  
pp. 553-556
Author(s):  
Vítor Bruno Teslenco ◽  
Maylson Alves Nogueira Barros ◽  
Everton Floriano Pancini ◽  
Herbert de Abreu Cavalcanti ◽  
Guilherme Nucci dos Reis
Keyword(s):  
Case Report ◽  
Molecular Genetics ◽  
Rio De Janeiro ◽  
Case Reports ◽  
Cleidocranial Dysplasia ◽  
Review Of The Literature ◽  
Supernumerary Teeth ◽  
Tooth Formation ◽  
Diagnosis And Management ◽  
Dent Assoc

Introdução: Anomalias de forma, tamanho, formato, número, estrutura, e erupção dentária são comumente vistas dentro da odontologia. Dentre elas temos a hiperdontia ou dentes suprenumerários. A etiologia desta patologia não foi realmente esclarecida, porém estas anormalidades são gerenciadas por um complexo sistema de interação genética e ambiental. Objetivo: relatar à comunidade científica um caso diagnosticado como displasia cleidocraniana, onde foram removidos 34 dentes supranumerários de uma paciente. Relato de caso: Paciente do gênero feminino, 12 anos de idade, diagnosticada com displasia cleidocranina. Foram realizados um total de 04 procedimentos, para remoção dos dentes e tracionamento dos permanentes impactados. Todos os procedimentos foram realizados sob anestesia local. Conclusão: O principal fator a se considerar para que busquemos o sucesso no tratamento destes pacientes é o diagnóstico precoce. Desta maneira, podemos buscar de maneira multidisciplinar um adequado plano de tratamento, evitando complicações futuras ao paciente portador da síndrome. Descritores: Dente Impactado; Dente Supranumerário; Cirurgia Bucal; Displasia Cleidocraniana. Referências Hattab FN, Yassin OM, Rawashdeh MA. Supernumerary teeth: report of three cases and review of the literature. ASDC J Dent Child. 1994;61(5-6):382-93.  Scheiner MA, Sampson WJ. Supernumerary teeth: a review of the literature and four case reports. Aust Dent J. 1997;42(3):160-65.  Teslenco VB, Gaetti ECJ, Silva JCL. Bilateral supernumerary mandibular: case report. Arch Health Invest. 2017;6(3):110-14. Neville BW, Damm DD, Alen CM, Bouquot JE. Patologia oral e maxilofacial. 4.ed. Rio de Janeiro: Elsevier; 2016. Garvey MT, Barry HJ, Blake M. Supernumerary teeth--an overview of classification, diagnosis and management. J Can Dent Assoc. 1999;65(11):612-16. Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999; 36(3):177-82. Kreiborg S, Jensen BL. Tooth formation and eruption - lessons learnt from cleidocranial Eur J Oral Sci. 2018;126(Suppl 1):72-80. Ma Y, Zhao F, Yu D. Cleidocranial dysplasia syndrome with epilepsy: a case report. BMC Pediatr. 2019;19(1):97.

scholarly journals Hypopituitarism due to mutation in the PROP1 gene in association with the 47,XYY karyotype and autosomal dominant atrioventricular septal defect: two case reports

2017 ◽  
Vol 63 (3) ◽  
pp. 174-178
Author(s):  
Dilyara N. Gubaeva ◽  
Elizaveta M. Orlova ◽  
Maria S. Pankratova ◽  
Alexander V. Vorontsov ◽  
Maria А. Kareva
Keyword(s):  
Genetic Analysis ◽  
Pituitary Gland ◽  
Rare Diseases ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Molecular Genetic ◽  
Atrioventricular Septal Defect ◽  
Molecular Genetic Analysis ◽  
Prop1 Gene

Application of genetic analysis in clinical practice enables identifying a combination of two rare diseases in one patient. We report two cases of patients with hypopituitarism due to PROP1 gene mutations in combination with the 47,XYY karyotype (case 1) and autosomal dominant partial atrioventricular septal defect (case 2). These clinical cases clearly demonstrate that several rare diseases can be present in one patient. The morphology of the pituitary gland has specific features in patients with a PROP1 gene mutation: signal inversion on T1- and T2-weighted images, as well as changes in size of the pituitary gland over time. In case of short stature, the hormonal evidence of secondary hypopituitarism, low IGF-1 levels, and specific morphological features observed in MRI images, we recommended carrying out molecular genetic analysis of the PROP1 gene without conducting growth hormone stimulation test.

Diagnosis and Management of the Double Orifice Mitral Valve: Three Case Reports

2005 ◽  
Vol 8 (4) ◽  
pp. E236-E240 ◽  
Author(s):  
Omer Faruk Dogan ◽  
Metin Demircin ◽  
Tevfik Karagoz
Keyword(s):  
Mitral Valve ◽  
Case Reports ◽  
Diagnosis And Management ◽  
Double Orifice
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