Osteopetrosis: classification, pathomorphology, genetic disorders, clinical manifestations (literature review and clinical case report)

Cardiovascular mortality occupies a leading position in the structure of total mortality. Brugada syndrome is one of the syndromes associated with the risk of sudden non-coronary death at a young age. However, the prevalence of this syndrome and its clinical manifestations are underestimated due to low detectability. This article presents a clinical case of the diagnosis of Brugada syndrome with the installation of a cardioverter-defibrillator in the practice of a cardiologist and a brief literature review of this syndrome.

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Epidermoid brain cysts: a case report and a literature review

Vestnik nevrologii, psihiatrii i nejrohirurgii (Bulletin of Neurology, Psychiatry and Neurosurgery) ◽

10.33920/med-01-2105-04 ◽

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.

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Giant pleomorphic sarcoma of the tongue base – a cured clinical case report and literature review

Romanian Journal of Morphology and Embryology ◽

10.47162/rjme.61.4.34 ◽

2021 ◽

Vol 61 (4) ◽

pp. 1323-1327

Author(s):

Daniela Vrînceanu ◽

Keyword(s):

Case Report ◽

Literature Review ◽

Clinical Case ◽

Tongue Base ◽

Pleomorphic Sarcoma

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

Frontiers in Neurology ◽

10.3389/fneur.2021.706094 ◽

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.

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Surgical treatment of Eagle’s Syndrome through intraoral access: a case report and literature review

Brazilian Journal of Case Reports ◽

10.52600/2763-583x.bjcr.2021.1.1.15-21 ◽

2021 ◽

Vol 1 (1) ◽

pp. 15-21

Author(s):

Rodrigo Cristhian Avelino Bezerra ◽

Jonas Nogueira Ferreira Maciel Gusmão ◽

Bruno Frota Amora Silva ◽

Rodrigo Lemos Alves ◽

Eliardo Silveira Santos ◽

...

Keyword(s):

Case Report ◽

Surgical Treatment ◽

Literature Review ◽

Facial Pain ◽

Clinical Case ◽

Styloid Process ◽

Eagle’S Syndrome ◽

Intraoral Approach ◽

Eagle Syndrome ◽

Review Study

The styloid process is a bone projection that originates in the tympanic portion of the temporal bone. The enlongation of the styloid process, or the ossification of the styloid process, can originate a series of symptoms such as dysphagia, odynophagia, facial pain, otalgia, headache, tinnitus and trismus, establishing the clinical picture of Eagle Syndrome. In this report, we present an important clinical case of adult patient diagnosed with Eagle’s Syndrome who underwent surgery for reduction of the enlongated styloid process, by intraoral approach, added to a literature review study.

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Case report of von willebrand disease after tonsillotomy and adenotomy in a child

Russian otorhinolaryngology ◽

10.18692/1810-4800-2021-1-89-92 ◽

2021 ◽

Vol 20 (1) ◽

pp. 89-92

Author(s):

S. S. Makhmudov ◽

◽

A. A. Ochilzoda ◽

F. P. Dzhamolov ◽

A. Z. Mutalibov ◽

...

Keyword(s):

Case Report ◽

Clinical Practice ◽

Surgical Treatment ◽

Clinical Case ◽

Clinical Manifestations ◽

Von Willebrand Disease ◽

Rare Occurrence ◽

Von Willebrand

The authors present a clinical case of von Willebrand disease detected after tonsillotomy and adenotomy in a child. The peculiarity of this observation lies in the rare occurrence of von Willebrand disease in clinical practice, as well as the manifestation of the clinical manifestations of this pathology against the background of surgical treatment in a child.

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The first reported treatment of Nager syndrome associated hearing loss with bone-anchored hearing aids: case report

The Journal of Laryngology & Otology ◽

10.1017/s0022215111002738 ◽

2011 ◽

Vol 126 (1) ◽

pp. 76-78 ◽

Cited By ~ 4

Author(s):

G P Davies ◽

I J M Johnson

Keyword(s):

Hearing Loss ◽

Case Report ◽

Literature Review ◽

Current Literature ◽

Hearing Aids ◽

Clinical Case ◽

Conductive Hearing Loss ◽

First Case ◽

Nager Syndrome ◽

Conductive Hearing

AbstractObjective:To report the first case of treatment of Nager syndrome associated conductive hearing loss with bone-anchored hearing aids, in a three-year-old boy.Method:Clinical case report and current literature review regarding the use of bone-anchored hearing aids in the treatment of conductive hearing loss in children.Results:A three year eight month old boy with Nager syndrome was successfully treated for conductive hearing loss using bilateral bone-anchored hearing aids.Conclusion:This is the first case report of the use of bone-anchored hearing aids to treat Nager syndrome associated conductive hearing loss. Treatment was safe and successful in this case.

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

Pediatric Rheumatology ◽

10.1186/s12969-019-0388-4 ◽

2019 ◽

Vol 17 (1) ◽

Cited By ~ 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.

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