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Free PDF Download Eur opean Rev iew for Med ical and Pharmacol ogical Sci ences 2013; 17: 1978-1981 Respiratory failure and pharyngeal hematoma as presenting signs of Moschcowitz’s syndrome: a case report and literature review S. COCUZZA, P. PAVONE*, M. BONFIGLIO, R. CHIARAMONTE, C. IURATO*, R. FALSAPERLA*, M. VELARDITA**, A. SERRA Otolaryngology Section, Department of Medicine and Surgery, University of Catania, Catania, Italy *Department of Pediatrics, AOU Vittorio Emanuele-Policlinico, University of Catania, Catania, Italy **Department of Pediatrics, PO Gravina, Caltagirone, Italy Abstract. – Moschcowitz’s syndrome or consequence of the binding of the platelets from thrombotic thrombocytopenic purpura is a quite ULVWF remaining in the circulation 4, 5. Im - rare pathology in childhood, being, as a matter of munoglobulin G (IgG) autoantibodies that block fact, more frequent among adult people. Often it is hard to distinguish from other pathologies in the activity of ADAMTS13 have been detected in children both for its rare incidence and for the patients suffering from TTP; this may account for presence of clinical forms that are very heteroge - the impairment of ADMATS13 characteristically neous and difficult to be classified. We report on observed in cases of TTP 6, 7. a 13 year-old girl suffering from Moschcowitz’s In children it is often hardly distinguished from syndrome, in whom respiratory failure and pha - ryngeal hematoma were the first sign of the dis - other pathologies with which it can be mistaken, ease follone by jaundice, hematoma of the arm like hemolytic-uremic syndrome, and this difficul - and limbs. The girl was treated with plasmaphere - ty is due to two main factors: scarce incidence of sis with an improvement of her general condition. Moschcowitz’s syndrome, which makes it little Since then we have followed up the girl for two known, and the presence of clinical forms that are years without any reappearance of the sympto - very heterogeneous and not easy classified 1,2 . matology. To our knowledge this is the first re - port of this peculiar presentation in children. Moschcowitz’s syndrome, which takes its name from the discoverer who described it for the first Key Words: time in 1924, is characterized by multifocal stroke Thrombotic thrombocytopenic purpura, Pharyn - geal hematoma, Respiratory failure, childhood. episodes caused by occlusions at microcirculatory level, thrombocytopenia from consumption and hemolytic anemia from mechanical damage with Introduction presence of schistocytes (negative Coombs) 3,4 . It is classified as primary or secondary and can mani - Thrombotic thrombocytopenic purpura (TTP) fest itself both under oligosymptomatic forms and is a condition characterized by thrombocytope - under very perilous forms that can take the subject nia, microangiopathic haemolytic anemia, and to coma and death 1,2 . less frequently with neurological deficits, renal Here we report on a 13 year-old girl who come failure, and fever. TTP is a rare disease, and has recently to our observation. been reported to affect only 3.7 persons per one million annually in the United States 1. It fre - Case Report quently follows a fatal course; 95% of patients A.C., 13-year-old girl, was admitted to Emer - die within three months if not treated 2. gency Department for the presence of dyspnea TTP pathogenesis has been associated with de - with tirage. At the admission she was agitated ficiencies in the metalloproteinase, ADAMTS13 and diaphoretic. At the physical examination, in (A Desintegrin And Metalloprotease with a both lungs, no wheezes were found but tirage ThromboSpondin like domain 13) 3. The principal and muscular accessory respiration was noticed. function of ADAMTS13 involves the cleavage of SAO 2 was 94-95%. Thorax RX was normal. unusually large forms of von Willebrand factor For the respiratory distress associated with a (ULVWF), thereby, preventing ULVWF multi - normal lungs function, suspecting an upper-air - mers from accumulating in the circulation; ways problem, a ENT consultation was request - platelet aggregation in TTP is thought to be the ed. Rhinoscopy showed several varices of locus 1978 Corresponding Author: Piero Pavone , MD; e-mail: [email protected] Pharyngeal hematoma in Moschcowitz’s syndrome valsalvae. Fiber optic laryngoscopic exam re - following a normal pregnancy. Birth weight was vealed the presence of a bulky hematoma in the 3100 grams. History was negative for jaundice at left side of hypopharynx that largely obstructed the birth. The first milestones were normal. the glottis (Figure 1). Vocal cords, partially visi - Thorough anamnesis collection showed that ble, were normal as regards motility and mor - about three weeks before her admission, the girl phology. The otolaryngologist suggested to refer began to show lower limb hematoma and epis - the patient to imaging in order to better assess taxis; for this reason she was taken to the family the extension and the origin of the hematoma. doctor who suggests to made a hematological Laboratory exams showed: platelets 13 × 10^3, test, but the parents refused. The day after we red blood cells 3.2 × 10^6, haemoglobin 10.2 g/dl, found the presence of marked skin and scleral the percentage of reticulocytes were 0.11%; hepat - jaundice with arm and limb hematoma. At this ic functionality tests were within normal range time the blood tests showed: platelets 26 × 10^3, (GOT 27 UI/1; GPT 11 UI/1; gamma-GT 11 red blood cells 2.90 × 10^6 with presence of UI/1); LHD values were very high (1,413 UI/1; schistocytes at the peripheral smear, haemoglo - Reference values 240-480 UI/1); kidney function, bin 9.6 g/dl, the percentage of reticulocytes were according to lab data results, was within the norm 0.21%. Total and unconjugated bilirubin agreed (urea 28 mg/dl, creatinin 0.60 mg/dl). PT, PTT with the presence of haemolytic prehepatic and fibrinogen were normal. icterus (total bilirubin 11.4 mg/dl; unconjugated CT exam was done without and with intra - bilirubin 10.65 mg/dl); hepatic functionality tests venous contrast medium and allowed to identify were within normal range (GOT 32 UI/1; GPT an hypodense formation (about 70 H.U.) in hy - 23 UI/1; gamma-GT 18 UI/1); LHD values were popharyngeal and paralaryngeal spaces on the very high (1,624 UI/1; Reference values 240 -480 left side, with a secondary pharyngolaryngeal UI/1); haptoglobin results were significantly be - dislocation to the right side and a rotation of hy - low the reference limits (1 mg/dl; reference val - oid bone towards the same side. Such formation ues 30 -200 mg/dl). Kidney function, was within extended caudally towards a plane at the level of the norm (urea 23 mg/dl, creatinin 0.70 mg/dl), left upper lobe of thyroid. After injection of con - as well as the FR values and antibodies against trast agent there was not enhancement. TORCH agents and other virus (Toxoplasma Because of the severe respiratory symptomatol - Gondi; German measles; CMV; Herpes Simplex, ogy the patient, after transfusion of three platelets Epstein Barr virus (VCA and EBNA. Native an - units, underwent tracheostomy in order to obtain a ti-DNA antibodies and AMA were absent; within recovery of ventilation function and to protect lower the norm the anticardiolipin and antiphospholipid airways from potential hemorrhage. One hour be - antibodies, while the ANA were present (1/80), fore surgery three platelets unit were transfused. Af - and the ASMA too (1/160). ter the surgery the girl was moved to Pediatric Unit PT, PTT, were normal; fibrinogen 410 mg (nv where further clinical investigation was carried out. 200-400 mg/dl) Thyroid function was within the The girl was second-born to non-consan - norm with hormonal values within limits and ab - guineous parents (the mother suffering from he - sence of anti-thyroglobulin antibodies. The ab - patitis B), by a spontaneous full term delivery dominal ultrasound exam and the abdominal CT, carried out with contrast, showed a normal liver, biliary ducts and gallbladder not swollen, kidneys in the right position, of normal size for the age. On the base of the clinical picture and the tests we made a diagnosis of thrombotic thrombocy - topenic purpura or autoimmune genesis Moschcowitz’s syndrome. Daily therapy with plasma exchange was started, Urbason (40 mg bid intravenously), Persantin and Eparmefolin (1 fl/dl intravenously). The above therapy was con - tinued through which an improvement of the clin - ical picture had been obtained and a negative con - version of ANA and ASMA. The study of ADAMST 13 activity showed a severe deficiency Figure 1. value (< 10%) with positive anti ADAMTS 13 1979 S. Cocuzza, P. Pavone, M. Bonfiglio, R. Chiaramonte, C. Iurato, R. Falsaperla, M. Velardita, A. Serra IgG and inhibitor. The patient underwent 32 ses - coprotein of a membrane called GPI. This process sions of plasma exchange. Following this sessions needs a precise modulation and this role is carried some nettle-rash manifestations appeared, which out by metalloprotease ADAMST13 that eliminates disappeared without further complications. the Von Willebrand factor in excess limiting the The patient was dismissed with improvement uncontrolled growth of the platelet thrombus. Its of clinical conditions and normalization of hema - deficiency, as it happens when in presence of au - tochemical tests. Symptomatology improvement toinhibitor antibodies, or its malfunction, in the was followed clinically and by means of CT even rarer case of genetic changes causes the un - imaging, which showed progressive reduction controlled growth of thrombuses at peripheral level. and the definitive disappearance of the pharyn - This process is at the base of thrombocytopenia geal hematoma within three months since diag - from consumption and of hemolytic anemia from nosis was established. Such condition allowed us mechanical damage and can cause vasal occlusions to carry out a closure of the tracheostomy, after followed by ischemia at different organs level.
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