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    Tytuł:
    Laryngological symptoms of gastroesophageal reflux disease
    Autorzy:
    Mierzwa, Grażyna
    Sinkiewicz, Anna
    Powiązania:
    https://bibliotekanauki.pl/articles/1400277.pdf
    Data publikacji:
    2017
    Wydawca:
    Index Copernicus International
    Tematy:
    gastroesophageal reflux disease
    laryngopharyngeal reflux
    extraesophageal symptoms
    proton pump inhibitors
    treatment
    Opis:
    The artical presents a case of a 32 years old men with extraoesophagal symptoms of gastroesohagal reflux disease and laryngopharyngeal reflux. He was by ph-impedance monitoring, stroboskopy and gastrointestinal endoscopy with biopsy diagnosed. PPI therapy with dexlansoprasole was most efficient.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2017, 6, 2; 70-75
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Otorhinolaryngological manifestations of COVID-19
    Otorynolaryngologiczne manifestacje COVID-19
    Autorzy:
    Wysocki, Jarosław
    Powiązania:
    https://bibliotekanauki.pl/articles/1399025.pdf
    Data publikacji:
    2021-04-26
    Wydawca:
    Index Copernicus International
    Tematy:
    COVID-19
    otorhinolaryngology
    symptoms
    otorynolaryngologia
    objawy
    Opis:
    COVID-19 manifests itself in a wide spectrum of clinical symptoms, both in terms of their variety and severity. It can be asymptomatic or abortive, mild, moderate, severe and lightning, as septic with multiple organ failure and shock Typical leading symptoms of COVID-19 are: high fever poorly responding to drugs, severe loss of strength, chest pain, dyspnoea, pain headaches, bone and joint pain and muscle pain, until the onset of acute respiratory distress syndrome (ARDS). However, many publications mention among the possible symptoms also others, not related to the involvement of the lower respiratory tract. These are gastrointestinal disorders, damage to the central and peripheral nervous system, catarrh of the upper respiratory tract and dysfunctions of the sensory organs. The aim of this literature review was to determine the frequency of various head and neck dysfunctions that are part of COVID-19. Symptoms of conjunctivitis, nasal mucosa, pharynx and larynx are reported by about of patients, but they do not always occur at the same time, as in infections caused, for example, by rhinoviruses. Anosmi / hyposmia or ageusia / hypogeusia occur with a similar frequency. Symptoms of damage to the equilibrium system, such as dizziness, are reported by approx. 1/3, vertigo and hearing loss approx. 5-6%, tinnitus approx. 10% of patients. Reports of coexistence with COVID-19 of peripheral paresis of the facial nerve are so far relatively few and often included in the neurological disorders, the frequency of which is also about 1/3 of COVID-19 cases. Importantly, both catarrhal symptoms and the others listed here may precede, co-occur or follow the appearance of the leading symptoms of COVID-19. They can also be the only symptoms of this disease. This should prompt otorhinolaryngologists to be particularly vigilant in this regard
    COVID-19 manifestuje się szerokim spektrum objawów klinicznych, tak pod względem ich różnorodności, jak natężenia. Może przebiegać bezobjawowo lub poronnie, lekko, średnio, ciężko oraz piorunująco, jako stan septyczny z niewydolnością wielonarządową i wstrząsem Typowymi wiodącymi objawami COVID-19 są: wysoka gorączka słabo reagująca na leki, mocno odczuwalna utrata sił, ból w klatce piersiowej, duszność, ból głowy, bóle kostno-stawowe i mięśniowe, aż do wystąpienia zespołu ostrej niewydolności oddechowej ARDS (acute respiratory distress syndrome). Jednakże wiele publikacji wymienia wśród możliwych objawów także inne, nie związane z zajęciem dolnych dróg oddechowych. Są to zaburzenia żołądkowo-jelitowe, uszkodzenia ośrodkowego i obwodowego układu nerwowego, nieżyt górnych dróg oddechowych i dysfunkcje narządów zmysłów. Celem niniejszego przeglądu piśmiennictwa było określenie częstości różnych dysfunkcji w obrębie głowy i szyi, będących elementami COVID-19. Objawy nieżytu spojówek, błony śluzowej nosa, gardła i krtani podaje ok. ¾ chorych, jednak nie zawsze występują one wszystkie i jednoczasowo, jak w infekcjach wywoływanych np. przez rhinowirusy. Z podobną częstością występują Anosmi/hyposmia lub ageusia/hypogeusia. Objawy uszkodzeń układu równowagi, w postaci dizziness zgłasza ok. 1/3, vertigo i niedosłuch ok. 5-6%, szum uszny ok. 10%, pacjentów. Doniesienia o współwystępowaniu z COVID-19 obwodowego niedowładu nerwu twarzowego są na razie stosunkowo nieliczne i często zaliczane do zaburzeń neurologicznych, których częstość wynosi również ok. 1/3 przypadków COVID-19. Co ważne, tak objawy nieżytowe, jak i pozostałe tu wymienione mogą poprzedzać, współwystępować lub następować po wystąpieniu wiodących objawów COVID-19. Mogą być także jedynymi objawami tej choroby. Powinno to skłaniać otorynolaryngologów do szczególnej czujności w tym zakresie.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2021, 10, 2; 18-24
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Selected issues about diagnosis and treatment of the oral mucose membrane
    Autorzy:
    Górska, Renata
    Nowak, Maciej
    Powiązania:
    https://bibliotekanauki.pl/articles/1400242.pdf
    Data publikacji:
    2017
    Wydawca:
    Index Copernicus International
    Tematy:
    mucous membrane
    oral cavity
    systemic diseases
    changes
    oral symptoms
    Opis:
    Authors, based on current literature and their own clinical practice, have reported the most common oral mucosal lesions, with their clinical presentation, diagnosis and treatment.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2017, 6, 2; 15-24
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Vertigo in cerebellopontine angle tumor Patients
    Autorzy:
    Zarębska-Karpieszuk, Paulina
    Bartoszewicz, Robert
    Pierchała, Katarzyna
    Niemczyk, Kazimierz
    Powiązania:
    https://bibliotekanauki.pl/articles/1401828.pdf
    Data publikacji:
    2015
    Wydawca:
    Index Copernicus International
    Tematy:
    acoustic neuroma
    vestibular schwannoma
    vertigo
    imbalance;cerebellopontine angle tumor;symptoms T
    Opis:
    Cerebellopontine angle tumors are a group of tumors that originate from the posterior cranial fossa. Most of them are acoustic neuromas arising from the Schwann cell sheath of the vestibular branch of VIII cranial nerve. Those benign tumors usually present with unilateral hearing loss (53–57%), tinnitus (79–82%), and vertigo/imbalance (18–50%). The objective of this study was documentation-based evaluation of 53 out of 96 patients that received surgical treatment in the ENT Department of Medical University in Warsaw during the period from May 2012 to May 2014, with special consideration of vertigo/imbalance in relation to other symptoms. Statictical analysis has shown larger frequency of vertigo/imbalance in patients with mild to moderate hearing loss and positive corelation between the largest diameter of the tumor and the vestibular deficit in VNG (videonystagmography). The corelation of vestibular deficit in VNG and imbalance symptoms was only estabilished in the group with intrameatal localization of the tumor (T1).
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2015, 4, 4; 27-31
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    COVID-19 – current clinical data and review of recommendations for otolaryngologists and dentists
    Autorzy:
    Niemczyk, Kazimierz
    Jasińska, Agnieszka
    Krawczyk, Przemysław
    Bilińska, Małgorzata
    Powiązania:
    https://bibliotekanauki.pl/articles/1399175.pdf
    Data publikacji:
    2020
    Wydawca:
    Index Copernicus International
    Tematy:
    Covid-19
    Dentists
    diagnosis
    Otorynolaryngologists
    prevention
    SARS CoV-19
    symptoms
    Opis:
    Despite multidirectional activities in the sphere of politics, health care and limiting direct interpersonal contacts to a minimum, the Covid-19 pandemic has covered the whole world and the number of new cases is rising exponentially. This demonstrates the considerable severity of the situation. The doctors and other health professionals are and will be at the forefront of the fight against the pandemic, being at the same time the group most at risk of infection. SARS-CoV-2 virus infection applies to patients of all ages, with a median age of 49–59 years. The most common complaints in patients with Covid-19 include fever, caught, dyspnea, general malaise and muscle aches. In the course of Covid-19 may occur pneumonia, which in about 20% of cases is moderately to severe and associated with respiratory distress. Important for otorhinolaryngologists are reports of smell and taste disorders. Post-infective loss of smell can make up about 30% of all patients with Covid-19. The confirmation of SARS-CoV-2 infection in patients with symptomatic or epidemiological suspicion of Covid-19 are genetic tests RT-PCR. Biological material is usually taken from the nose or nasopharynx. The management of Covid-19 is symptomatic because there is currently no specific cure drug. There is a particularly high risk of transmitting infection from a patient to the physicians, who are treating diseases of the respiratory tract or perform any interventions on the upper and lower respiratory tract. Low-symptomatic first stages of the disease with high viral load mean that during a pandemic, scheduled examinations and procedures should be limited. During the examination of patients or their treatment, adequate full PPE protection is indicated, reducing the risk of accidental infection of the treatment team. For the treatment of patients with confirmed SARS-CoV-2 infection or requiring immediate treatment without the possibility of determining epidemiological factors Covid-19, full protection in PPE is obligatory.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2020, 9, 1; 19-27
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    A case of isolated subperiosteal orbital abscess in the course of acute rhinitis without sinal symptoms
    Autorzy:
    Gierlotka, Agata
    Michow, Marin
    Macionczyk, Bartosz
    Powiązania:
    https://bibliotekanauki.pl/articles/1399461.pdf
    Data publikacji:
    2019
    Wydawca:
    Index Copernicus International
    Tematy:
    functional endoscopic sinus surgery
    orbital abscess
    subperiosteal orbital abscess
    Opis:
    Orbital infection occurs when pathogens pass from an infected sinus into the orbit. The inflammation is spreading onto the orbital structures from the surrounding tissues mainly from ethmoidal sinuses due to its specific anatomical conditions. The orbital complications are: preseptal cellulitis, orbital cellulitis, subperiosteal abscess, orbital abscess and intracranial infections. The diagnosis of subperiosteal orbital abscess is based mainly on clinical presentation. The symptoms depend on which sinus is affected. Orbital symptoms include periorbital swelling, proptosis, ophthalmoplegia, chemosis, and optic nerve compression. Computer tomography is mandatory. Early diagnosis and appropriate treatment can prevent from permanent vision loss and intracranial complication. The study discusses the course of the disease of 25-year-old woman who was admitted to Emergency Department due to inflammatory eyelid oedema and proptosis for 3 days. No symptoms of sinusitis were noted. The CT scans established diagnosis – subperiosteal orbital abscess. The patient was treated with broad spectrum antibiotics and functional endoscopic sinus surgery. Her treatment and recovery were uneventful. In follow-up nighter ophthalmological nor otorhinolaryngological complains were noted.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2019, 8, 2; 57-60
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Acute dyspnea as a manifestation of Forestiers disease. A case report
    Autorzy:
    Kuryłowicz, Jagoda
    Stodulski, Dominik
    Garsta, Ewa
    Mikaszewski, Bogusław
    Powiązania:
    https://bibliotekanauki.pl/articles/1398952.pdf
    Data publikacji:
    2021
    Wydawca:
    Index Copernicus International
    Tematy:
    acute laryngeal dyspnea
    diffuse idiopathic skeletal hyperostosis
    dysphagia
    Forestier’s disease
    laryngeal oedema
    otolaryngological symptoms
    stridor
    tracheotomy
    Opis:
    Introduction: Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier’s disease, is a noninflammatory disease and is characterized by ossification of the anterolateral aspect of vertebral bodies, mostly in thoracic part of the spine. Although, usually, DISH is asymptomatic, in rare cases osteophytes located in the cervical part of the spine can cause otolaryngological manifestations, such as dysphagia (most common), hoarseness and stridor Case report: In differential diagnosis of upper respiratory tract symptoms, we should consider DISH. We present case of 82-years old male patient with acute dyspnea, who was diagnosed with osteophytes of C4–C7 vertebral bodies. In this case conservative therapy was not efficient, therefore successful surgical treatment was performed. BMI – Body Mass IndexCRP – C Reactive Protein CT – computed tomography DISH – diffuse idiopathic skeletal hyperostosis GERD – gastro-esophageal reflux disease MRI – magnetic resonance imaging NSAIDs – nonsteroidal anti-inflammatory drugs ORL PPI – proton pump inhibitors Diffuse idiopathic skeletal hypMRerostosis (DISH), also known as Forestier’s disease, was first described under the name “senile ankylosing hyperostisis of the spine” by Jacques Forestier in 1950 [1]. It is a noninflammatory disease, characterized by ossification of the anterolateral aspect of vertebral bodies, mostly in thoracic part of the spine. It may also involve enthesopathy of the extremities. Forestier’s disease is a rather common condition, which affects approximately 40% of older (>65 years old) male patients. Prevalence of DISH increases with age (56% for age >80 years old), BMI and blood pressure [2] and is associated with diabetes mellitus, elevated insulin-like growth factor and hyperuricemia [3].Although usually DISH is asymptomatic, in rare cases osteophytes located in the cervical part of the spine can cause otolaryngological manifestations, such as dysphagia (most common), hoarseness and stridor [4–10]. null null null null An 82-years old man was admitted to the Department of Otolaryngology due to acute dyspnea with stridor at rest. Respiratory disorder was progressing for 2 months. Moreover, patient complained of dysphagia and hoarseness, which were present for a year. The patient was diagnosed with GERD and treatment was administrated. Medical history was significant of duodenal ulcer with perforation and prostate cancer treated with hormonal therapy for 13 months. Flexible nasopharyngoscopy revealed large mass protruding from the posterior wall of hypopharynx and oedema, which concealed interarytenoid notch and partly rima glottis (Fig. 1.). No other abnormalities in ORL examination were present. Increased CRP level and impaired fasting glucose were found in laboratory tests during hospitalization. CT (Fig. 2.) and MRI (Fig. 3.) revealed massive osteophytes on the anterior part of vertebral bodies C4–C7 without intervertebral disc space narrowing, thickened vestibular folds and peri-arytenoid region. X-ray revealed no changes in sacro-iliac joints. Hypopharyngoscopy and microlaryngoscopy were performed in due to rule out neoplastic changes. Antibiotis, steroids and high doses of PPI (proton pump inhibitors) were administered, resulting in oedema decrease and resolution of the symptoms. After 7 months patient was hospitalized again, due to acute dyspnea and stridor. Increased CRP level was found in laboratory tests. Despite conservative therapy (corticosteroids, antibiotics and PPI) no significant respiratory improvement was achieved, therefore decision on surgical treatment was made. Patient was referred to the Department of Neurosurgery where, after elective tracheotomy, cervical osteophytes (C2–C5) were removed, using an anterolateral transcervical approach, without any complications (Fig. 4.). Because of postoperative laryngeal and hypopharyngeal oedema, steroid therapy was maintained. Decannulation was performed on 7th postoperative day, although patient complained of more severe dysphagia with aspiration while swallowing. Nasogastric feeding tube was inserted for 3 weeks. At the 6-month follow up dyspnea and dysphagia are absent, patient successfully swallows solid food and liquids. Endoscopic examination revealed only small protrusion and minor oedema on posterior wall of hypopharynx on the level of arytenoids (Fig. 5., 6.). null null Forestier’s disease otolaryngological manifestations are extremely rare. The most common symptom is dysphagia, aside from it aspiration [11], dyspnea (with or without stridor) and hoarseness [4].Our patient’s main complaint and reason of hospitalization was dyspnea, while dysphagia was secondary problem. Foregoing symptoms can occur not only due to osteophytes compression on larynx and esophagus, but also because of chronic inflammation and chronic or recurrent edema caused by mechanic irritation. Other symptoms, such as aspiration while swallowing, can be caused by impaired movability of epiglottis or vocal chords [8, 11].In presented case symptoms (especially dyspnoe) were increasing during upper respiratory tract infections and due to exacerbation of GERD.In literature authors described similar cases, where inflammation led to oedema, chronic or remitting during infection, which worsened patient’s condition [12, 13] and caused respiratory decompensation, necessitating even urgent tracheotomy [10].During diagnosis of DISH with otolaryngologic manifestations, mirror laryngoscopy and fiberoscopy should be performed. It can reveal fine, firm protrusion on the posterior wall of pharynx, accompanied by oedema and impaired movability of larynx [8].In differential diagnosis of protrusion on the posterior wall of pharynx we should consider retropharyngeal pathologies, such as malignant tumors (including lymphoma), benign tumors, metastases, congenital defects (e.g. vascular malformations), lymphadenopathy, retropharyngeal abscess or massive oedema. Imaging (CT, MRI) can rule out these diseases [14].Forestier’s disease should also be distinguished from other pathologies, which involve vertebral bodies, including ankylosing spondylitis, osteophytes in osteoarthritis or osteomas [3]. Differential diagnosis can be based on Resnick’s radiological classification criteria of DISH [15]: presence of flowing calcification and ossification along with the anterolateral aspects of at least four contiguous vertebral bodies, relative preservation of intervertebral disc height in the involved vertebral segments and absence of apophyseal joint bony ankylosis and sacro-iliac joint erosion, sclerosis or bony fusion.In cases with dysphagia being the main patient’s complaint, esophagogram with barium swallowing should be performed [5, 9, 11]. Elective panendoscopy with biopsy should always be considered to rule out neoplasm [5, 16].If DISH is diagnosed accidently in imaging, we can assume an expectant attitude. Conservative treatment with NSAIDs, steroids and dietary measures can be introduced in cases without weight loss and with minor respiratory symptoms. Gastroesophageal reflux can be symptom-worsening factor, therefore PPI treatment should be considered. If conservative treatment is not effective, osteophytes’ surgical removal is recommended, preferably using anterolateral approach [16].In our case, conservative therapy was not sufficient. Massive hypopharyngeal oedema and stridor were present in spite of high doses of corticosteroids. Due to the pre-operative oedema we decided to perform an elective tracheotomy before neurosurgical intervention, to avoid possible complications [13].It is remarkable, that after surgery dyspnea resolved after few days, whilst dysphagia and aspiration worsened in post-operative time and nasogastric tube insertion was necessary.Authors present this case in aim to draw attention to Forestier’s disease as possible reason for respiratory and gastrointestinal symptoms among elderly people.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2021, 10, 1; 49-52
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Meniere Disease p. 1. Diagnosis criteria, signs and symptoms of Meniere Disease (MD) – comment to updated guidelines and own experiences
    Autorzy:
    Niemczyk, Kazimierz
    Pierchała, Katarzyna
    Bartoszewicz, Robert
    Jasińska, Agnieszka
    Powiązania:
    https://bibliotekanauki.pl/articles/1399343.pdf
    Data publikacji:
    2019
    Wydawca:
    Index Copernicus International
    Tematy:
    hearing loss
    inner ear
    Meniere’s disease
    tinnitus
    tone audiometry
    vertigo
    Opis:
    We present an overview of current diagnostic and therapeutic guidelines on Ménière’s disease. Over the last five years, four studies on this subject have been published. In 2015, five Societies including the Classification Committee of the Barany Society, Japan Society for Equilibrium Research, EAONO - European Academy of Otology and Neurotology, AAO-HNS - American Academy of Otorhinolaryngology - Head Neck Surgery, and Korean Balance Society have issued updated guidelines on the diagnosis and treatment of Ménière’s disease. Other multi-center publications have since been published as well such as the International consensus (ICON) on treatment of Ménière’s disease 2018, European Position Statement on Diagnosis, and Treatment of Meniere’s Disease, Diagnostic and therapeutic strategy in Ménière’s disease, Guidelines of the French Otorhinolaryngology - Head and Neck Surgery Society (SFORL) 2017. The above-listed recommendations include the most recent diagnostic advancements (e.g. inner ear MRI) and new electrophysiological tests, but also discuss other commonly used treatment modalities, result reporting and they take into account the quality of life of the patients following treatment. We present the main clinical challenges in managing Ménière’s disease, principles of diagnosis as well as the treatment introduced at our center. Finally, we discuss fundamental updates contained in the published papers.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2019, 8, 2; 12-17
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    The impact of treatment under subterraneotherapy conditions at the “Wieliczka” Salt Mine Health Resort on the symptoms of diseases of the nose and paranasal sinuses
    Autorzy:
    Woźniak, Aleksandra
    Nowak, Karol
    Pełkowska, Anna
    Rys, Katarzyna
    Gawlik, Jolanta
    Składzień, Jacek
    Powiązania:
    https://bibliotekanauki.pl/articles/1398963.pdf
    Data publikacji:
    2021
    Wydawca:
    Index Copernicus International
    Tematy:
    chronic non-allergic rhinitis
    respiratory rehabilitation
    subterraneotherapy
    Opis:
    Introduction: Chronic rhinosinusitis is an important disease of the upper respiratory system which substantially reduces patient quality of life and the methods of symptomatic treatment are tremendously limited. Aim: The aim of this study was to evaluate the next therapeutic option which is a combination of respiratory rehabilitation and subterraneotherapy. Material and methods: The study covered 57 patients of whom 15 were men and 42 women. The average age of patients was 60 +/- 10.87 (standard deviation). 44 patients finished 15 days of therapy which covers full-time treatment. The average age of these patients was 59.7 +/- 11.6 (standard deviation). Results: In the study group, there was a statistically significant reduction among all analyzed symptoms of chronic rhinosinusitis. The general severity of symptoms decreased from 5.66 cm to 2.57 cm (p < 0.001), blockade/congestion of the nose from 5.49 to 2.23 cm (p < 0.001), anterior nasal discharge from 5.33 cm to 2.5 cm (p < 0.001), posterior nasal discharge from 6.04 cm to 2.71 cm (p < 0.001), facial pain/pressure from 3.43 cm to 1.45 cm (p < 0.001), headache from 3.73 cm to 1.19 cm (p < 0.001) and reduction or loss of smell from 4.17 cm to 1.94 cm (p < 0.001). Conclusions: Such a notable improvement in all analyzed symptoms led us to conclude that respiratory rehabilitation, especially such conducted in adequate climatic conditions, should be a valuable therapeutic option in the symptomatic treatment of patients with chronic rhinosinusitis.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2021, 10, 1; 22-27
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old child
    Autorzy:
    Malicka, Katarzyna
    Grochowska-Bohatyrewicz, Ewa
    Pietrzyk, Aleksandra
    Iwona, Stecewicz
    Jaworowska, Ewa
    Giżewska, Maria
    Powiązania:
    https://bibliotekanauki.pl/articles/1400400.pdf
    Data publikacji:
    2017
    Wydawca:
    Index Copernicus International
    Tematy:
    5p deletion syndrome
    5p minus syndrom
    Cri du Chat syndrome
    stridor
    larynx malformations
    laryngeal cleft
    Opis:
    The 5p deletion syndrome (5p-, Cri-du-chat syndrome, CdCS) is a genetic disorder which results from a partial deletion of the short arm of chromosome 5. It was first described by Lejeune et al. in 1963. The incidence ranges from 1:15 000 to 1:50 000 live births. The 5p- is usually diagnosed in the first days of life because of the characteristic monotonous high pitched cat-like cry and relatively constant dysmorphic features. Other symptoms often present in the neonatal period include low birth weight, muscle hypotonia, asphyxia and feeding difficulties due to impaired suction and swallowing, which may all lead to failure to thrive. Organ malformations, with various larynx abnormalities, although not very frequent, can also be present. Symptoms that are prevalent in later life include severe motor delay and intellectual disability with significant speech impairment, as well as behavioral problems. The case report presents a female infant in her 5th month of life in whom, despite the typical symptoms of 5p-, stridor and episodes of choking were the main problems. Laryngotracheal endoscopy revealed the type I laryngeal cleft. Genetic analysis confirmed the diagnose of 5p- syndrome. The presented case shows that it is critically important to perform a further investigation and refer a child with laryngological problems coexisting with dysmorphic features to a clinical geneticist.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2017, 6, 3; 41-46
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
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