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Stridor jako jeden z objawów zespołu delecji 5p u 5-miesięcznego dziecka

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Malicka K., Grochowska-Bohatyrewicz E., Pietrzyk A., Iwona S., Jaworowska E., Giżewska M.

Polski Przegląd Otorynolaryngologiczny

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2017

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vol. 6(3)

41-46

PL

Zespół delecji 5p (5p-, zespół kociego krzyku) jest genetycznie uwarunkowanym zespołem wynikającym z ubytku fragmentu krótkiego ramienia chromosomu piątego, po raz pierwszy opisanym przez Lejeune i wsp. w 1963 r. Częstość występowania waha się pomiędzy 1:15 000 a 1:50 000 urodzeń. Podejrzenie zespołu monosomii 5p najczęściej zostaje wysunięte w pierwszych dniach życia z uwagi na charakterystyczny piskliwy, monotonny płacz przypominający miauczenia kota oraz względnie stałe cechy dysmorfii. Innymi objawami występującymi w okresie noworodkowym są: niska masa urodzeniowa, obniżone napięcie mięśniowe, bezdechy oraz trudności w karmieniu wynikające z zaburzonych odruchów ssania i połykania, co może prowadzić do niezadawalających przyrostów masy ciała. Wady narządów wewnętrznych, w tym wady krtani, chociaż niezbyt częste, również mogą występować. W późniejszym okresie życia cechą dominującą jest niepełnosprawność intelektualna i ruchowa, znacznie opóźniony rozwój mowy oraz zaburzenia zachowania. Praca przedstawia przypadek 5-miesięcznej dziewczynki, u której, poza typowymi cechami zespołu monosomii 5p, największym problemem okazały się częste epizody zakrztuszeń oraz stridor. W badaniu endoskopowym krtani stwierdzono rozszczep krtani pierwszego stopnia. Badania genetyczne potwierdziły rozpoznanie zespołu mnonosomii 5p. Prezentowany przypadek pokazuje jak istotne jest rozszerzenie diagnostyki oraz skierowanie do genetyka klinicznego dziecka z zaburzeniami laryngologicznymi współistniejącymi z cechami dysmorfii.

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Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old child

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Malicka K., Grochowska-Bohatyrewicz E., Pietrzyk A., Iwona S., Jaworowska E., Giżewska M.

Polski Przegląd Otorynolaryngologiczny

|

2017

|

vol. 6(3)

41-46

EN

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.

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Acute dyspnea as a manifestation of Forestier's disease. A case report

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Kuryłowicz J., Stodulski D., Garsta E., Mikaszewski B.

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vol. 10(1)

49-52

EN

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.

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Ostra duszność jako manifestacja choroby Forestiera. Opis przypadku

72%

Kuryłowicz J., Stodulski D., Garsta E., Mikaszewski B.

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vol. 10(1)

49-52

PL

Wprowadzenie: Rozsiana idiopatyczna hiperostoza szkieletu (ang. diffuse idiopathic skeletal hyperostosis; DISH), zwana również „chorobą Forestiera”, jest chorobą niezapalną, charakteryzującą się kostnieniem przedniobocznej powierzchni trzonów kręgów, najczęściej w piersiowym odcinku kręgosłupa. W większości przypadków nie jest ona asymptomatyczna, jednakże osteofity umiejscowione w szyjnym odcinku kręgosłupa mogą powodować objawy otolaryngologiczne, takie jak: dysfagia, chrypka czy duszność. Opis przypadku: Ze względu ma to, że u starszych chorych z objawami ze strony górnych dróg oddechowych w diagnostyce różnicowej należy brać pod uwagę również DISH, prezentujemy przypadek 82-letniego mężczyzny z nasiloną dusznością krtaniową, u którego zdiagnozowano obecność osteofitów trzonów kręgów C4–C7. Opisywany pacjent został poddany leczeniu zachowawczemu, a następnie, ze względu na brak zadowalającego efektu terapeutycznego, zabiegowi neurochirurgicznemu, po którym dolegliwości ustąpiły.

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4 Polski Przegląd Otorynolaryngologiczny

2 2020

2 2017

2 Garsta E.

2 Giżewska M.

2 Grochowska-Bohatyrewicz E.

2 Iwona S.

2 Jaworowska E.

2 Kuryłowicz J.

2 Malicka K.

2 Mikaszewski B.

2 Pietrzyk A.

2 Stodulski D.

Stridor jako jeden z objawów zespołu delecji 5p u 5-miesięcznego dziecka

Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old child

Acute dyspnea as a manifestation of Forestier's disease. A case report

Ostra duszność jako manifestacja choroby Forestiera. Opis przypadku