Chronic hyponatremia based on maxillary sinus mass.

SUMMARY: This is a case report of a child with chronic hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH) as a paraneoplastic manifestation of olfactory neuroblastoma (OFN). We hereby report a clinical presentation as well as a pragmatic approach to one of the most common electrolytic disorders in the pediatric population and have emphasized the necessity of involving the sinonasal area in the diagnostic procedure while evaluating possible causes of SIADH. This report indicates that the chronicity of the process along with the gradual onset of hyponatremia occurrence is responsible for the lack of neurological symptoms at the moment of disease presentation. LEARNING POINTS: Hyponatremia is not infrequently attributed to SIADH. Paraneoplastic syndromes are uncommon but they should be considered in the differential diagnosis of pediatric SIADH. Chronic insidious hyponatremia may not be associated with clear neurological symptoms despite its severity.

HEREDITARY ANGIOEDEMA DUE TO C1-INHIBITOR DEFICIENCY IN PEDIATRIC PATIENTS IN CROATIA - FIRST NATIONAL STUDY, DIAGNOSTIC AND PROPHYLACTIC CHALLENGES.

Hereditary angioedema (HAE) is a rare autosomal dominant disease with deficiency (type I) or dysfunction (type II) of C1 inhibitor, caused by mutations in the C1-INH gene, characterized by recurrent submucosal or subcutaneous edemas including skin swelling, abdominal pain and life-threatening episodes of upper airway obstruction. The aim of this study was to investigate healthcare experiences in children with HAE due to C1 inhibitor deficiency (C1-INH-HAE) in Croatia in order to estimate the number of affected children and to recommend management protocols for diagnosis, short-term prophylaxis and acute treatment. Patients were recruited during a 4-year period at five hospitals in Croatia. Complement testing was performed in patients with a positive family history. This pilot study revealed nine pediatric patients positive for C1-INH- HAE type I, aged 1-16 years, four of them asymptomatic. Before the age of one year, C1-INH levels may be lower than in adults; it is advisable to confirm C1-INH-HAE after the age of one year. Plasma-derived C1-INH is recommended as acute and short-term prophylactic treatment. Recombinant C1-INH and icatibant are licensed for the acute treatment of pediatric patients. In Croatia, HAE is still underdiagnosed in pediatric population.

Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1.

OBJECTIVE: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in the SERPING1 gene. It can affect many regions in the body, but potentially life-threatening laryngeal oedemas are of concern. METHODS: Twenty-three subjects from two families were recruited for clinical data evaluation and molecular analysis at General Hospital Sibenik, Croatia. RESULTS: Decreased levels of C1 inhibitor were detected in 12 adult patients and three young asymptomatic persons. The same novel deletion of two nucleotides on exon 3 (c.74_75delAT) was identified in all of them. A history of laryngeal oedema was present in 10 patients (83%), and all patients reported laryngeal attacks at least once a year. The delay in diagnosis decreased noticeably from the first to the last generation. CONCLUSIONS: We identified a novel causative mutation in SERPING1 in several affected members of two apparently unrelated families with a high frequency of laryngeal oedema. Molecular analysis of large C1-INH-HAE families will provide new insights on the genotype-phenotype relationship. Key messages Hereditary angioedema due to C1 inhibitor deficiency is a rare autosomal dominant disease caused by mutations in the SERPING1 gene, and laryngeal oedema is of concern because it can cause death by asphyxiation. A novel causative mutation in SERPING1, a deletion of two nucleotides on exon 3 (c.74_75delAT), was identified in several affected members of two apparently unrelated families with a high frequency of laryngeal oedema. Molecular analysis of large C1-INH-HAE families will provide new insights on the genotype-phenotype relationship because it appears that the mutation type may affect disease severity.

[DR ALEKSANDAR DORSNER THE FIRST HOSPITAL OTORHINOLARYNGOLOGIST IN SPLIT AND DALMATIA]. / DR. ALEKSANDAR DORSNER - PRVI BOLNICKI OTORINOLARINOLOG U SPLITU I DALMACIJI.

Dr Aleksandar Dorsner (Trebinje, 1892 - Lima, 1967) was the first hospital otorhinolaryngologist in Split and Dalmatia. He graduated from the Faculty of Medicine in Prague in 1919, and specialized otorhinolaryngology in Graz and Vienna. He led and organized otorhinolaryngological service in Split Hospital from 1923 to 1934, and he also had a private practice. Temporarily he also worked outside Split in Dalmatian hinterland and in Sibenik, Zadar and Dubrovnik. Most frequently he performed the following otorhinolaryngological operations: tonsillectomies and adenoidectomies and operations of purulent middle ear inflammations with mastoiditis, nasal polyps, deviated nasal septum, maxillary sinus empyema and otorhinolaryngological trauma. In 1928 he became a member of Otorhinolaryngological section of Croatian Medical Chamber. He participated in the work of the first otorhinolaryngological congress of the former Yugoslavia in 1931, taken place in Zagreb. From 1928 he was a member of Oto-Neuro-Ophthalmological Society. From 1933 to 1937 he was a vice-president of the main board of Free Organization of Dalmatian Physicians in Split. In 1938 he left Split permanently and continued living with his family in Lima (Peru) where he died in 1967. He was an erudite. He lived for his profession which he liked very much and dedicated his life to. He is one of the most meritorious doctors in Split medical history, whom otorhinolaryngology service in Split Hospital started with.

Aggressive middle turbinate osteoblastoma with intracranial extension: a case report.

INTRODUCTION: Osteoblastoma is an uncommon benign bone tumor that accounts for 1 percent of all primary bone tumors. About 30 to 40 percent of all osteoblastoma cases involve the spine. Osteoblastoma involving the nasal cavity is rare, with only 11 reported cases in the English-language literature, while only four cases of turbinate osteoblastoma have been described. CASE PRESENTATION: We report an unusual case of middle turbinate osteoblastoma associated with right-sided nasal obstruction and severe headache in a 14-year-old Caucasian girl. The tumor involved the right middle turbinate, complete anterior and incomplete posterior ethmoidal cells, and the frontal sinus ostium. Cribriform lamina was, in the most part, consumed by the tumor growth, while the skull base was mostly of normal bone structure. CONCLUSIONS: To the best of our knowledge, this is the first case of middle turbinate osteoblastoma with intracranial spread. Surgical treatment is the only therapeutic option for osteoblastoma.

The role of contact endoscopy in screening for premalignant laryngeal lesions: a study of 141 patients.

At their earliest stage, pathologic lesions of the laryngeal epithelium are macroscopically invisible. Ideally, these lesions should be detected before their clinical manifestations appear so that prompt management can be initiated. However, most diagnostic modalities are unable to detect early premalignant lesions. We conducted a retrospective study of the use of contact endoscopy in analyzing the vocal fold mucosal epithelium in adults who had been operated on at our hospital under general anesthesia for various nonlaryngeal diseases. After we identified 71 such patients who were smokers, we chose an almost equal number of nonsmokers (n = 70) for comparison purposes. In all, our study population was made up of 141 patients--51 men and 90 women, aged 21 to 78 years (mean: 52). All patients had normal findings on preoperative laryngeal endoscopy. Our goal was to determine if the routine use of this diagnostic modality is justified in selected cases. Contact endoscopy identified dysplastic vocal fold lesions in 4 patients and chronic laryngitis in 3; all 7 of these patients were smokers. Since early laryngeal lesions are not macroscopically evident, early detection of these changes by other means is associated with a better prognosis and easier management. Our study demonstrates that the use of contact endoscopy during general anesthesia as a standard diagnostic method in long-time cigarette smokers is fully justified.

[Influence of smoking on the nasal mucosa mucociliary transport]. / Utecaj pusenja na mukocilijarni transport slunice nosa.

The aim of the study was to compare mucociliary transport between healthy smokers and nonsmokers and to evaluate the influence of the duration of smoking, number of cigarettes per day and age on mucociliary function. The study included 176 subjects divided into two groups. One group consisted of 96 smokers and the other group of 80 nonsmokers. The saccharin test that measures mucociliary transport was performed on all study subjects. Analysis of test results showed a statistically significant difference in mucociliary transport between smokers older than average and the younger ones (t=2.58; df=22; P=0.01 7). Damage to the mucociliary transport was more severe in older smokers. A statistically significant difference in mucociliary transport was also found in smokers with a longer than average duration of smoking habit (t=3.362; df=22; P=0.003). There was no statistically significantly slower mucociliary transport according to the number of cigarettes per day and age at starting smoking. In conclusion, mucociliary transport was statistically slower in smokers that were older and had a longer smoking history as compared with younger smokers having smoking for a shorter time. Smoking has an important effect on mucociliary transport of the nasal mucosa.

Expression of matrix metalloproteinase-9 in patients with squamous cell carcinoma of the larynx.

Aim of this study was to investigate the correlation of matrix metalloproteinase-9 (MMP-9) expression with histopathologic and clinical characteristics of laryngeal squamous cell carcinoma, and to assess the role of MMP-9 expression in patient survival. Study included 196 patients with squamous cell carcinoma of the larynx treated at ENT Department, Split University Hospital Centre, from January 1, 2000 till December 31, 2009. The level of MMP-9 expression showed a statistically significant correlation (p < 0.001) with the disease histopathologic grade, stage, metastatic potential, recurrence potential, and survival. Kaplan-Meier curve yielded a statistically significant survival difference (p < 0.001) among the three patient groups with different levels of MMP-9 expression. The survival curve clearly showed the MMP-9 expression as a predictor of survival to be significantly (p < 0.001) associated with survival. In this study, MMP-9 expression as a biological marker showed a potential predictive value in laryngeal squamous cell carcinoma.

Primary laryngeal NK/T-cell non-Hodgkin lymphoma: a case report.

The estimated prevalence of extranodal non-Hodgkin lymphoma ranges from 10 to 35% of all cases; a finding in the larynx is extremely rare. We describe the case of a 77-year-old man who presented for evaluation of a 1-month history of minor swallowing difficulty, cough, and a foreign-body sensation in the throat. Fiberoptic endoscopy detected a tumor mass on the left aryepiglottic fold. Vocal fold mobility was normal. A biopsy specimen was obtained, and microscopic analysis revealed that the stratified squamous epithelium was partially eroded by abundant infiltrate that had occupied the entire submucosa. The submucosal infiltration consisted of lymphatic cells, including small, medium-sized, and large cells with an anaplastic appearance. On immunohistochemical analysis, the lymphoma cell population stained positive for CD3 and CD2, focally positive for CD56, and negative for CD4, CD5, and CD7. In addition, tumor cells expressed TIA-1, perforin, and granzyme B. A complete radiologic, pulmonologic, and hematologic workup found no other tumor. The patient underwent two cycles of chemotherapy followed by radiotherapy, and he experienced complete tumor regression. At the 1-year follow-up, findings on fiberoptic endoscopy of the larynx were normal, and positron-emission tomography found no evidence of a recurrence. The prognosis for this type of tumor is good when the diagnosis is made in the early phase of the disease. Long-term follow-up is advisable for the timely detection of possible local or distant recurrences, which are common.

Cigarette smoking and progression of laryngeal lesions.

The association between cigarette smoking and an increased risk of laryngeal carcinoma has been demonstrated in numerous studies. The aim of the present study was to assess the prevalence of smoking habit in patients with different laryngeal pathologies. The prevalence of cigarette smoking was compared between patients with laryngeal tumors and those with nonmalignant laryngeal lesions. Data on all patients with indications for direct microlaryngoscopy at the Clinic for Otorhinolaryngology of the University Hospital Center Split, during a five-year period were analyzed. The study included 562 patients with various laryngeal pathologies, divided into three groups as follows: group 1, benign lesions; group 2, precancerous lesions; and group 3, tumors. The majority of patients (82.92%) had a long history of smoking. The proportion of smokers was lowest in benign lesion group (72.13%), higher in precancerous lesion group (81.48%) and highest in malignant lesion group (97.14%). There was a statistically significant difference in the prevalence of cigarette smoking between patients with laryngeal tumors and those with benign or precancerous lesions (p < 0.001). The mean number of cigarettes per day was 20.54 +/- 14.80, and was lowest in benign lesion group (15.67 +/- 13.41) and highest in malignant lesion group (26.33 +/- 12.70). The mean length of smoking habit was 26.44 +/- 16.92 years, ranging from 19.57 +/- 16.03 years in benign lesion group to 35.20 +/- 12.12 years in malignant lesion group. Study results clearly pointed to the increased prevalence of laryngeal diseases in smokers, with a significant difference between patients with benign laryngeal lesions and those with laryngeal tumors.

Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report.

We report a rare case of a child with epidermolysis bullosa simplex (EBS) with plectin deficiency but without muscular dystrophy, with severe lesions of the oral cavity, oropharyngeal, hypopharyngeal, laryngeal, tracheal and bronchial mucosa. Case report and a review of the world literature are used. The literature review revealed only five similar patients with EBS without muscular dystrophy complicated by respiratory involvement. This paper highlights the potentially serious complications of the EB in the form of breathing, swallowing and speech difficulties and describes the specific problems encountered in the treatment of this patient. Epidermolysis bullosa (EB) is a group of severe hereditary diseases, primarily of the skin, but which can also involve the respiratory and gastrointestinal tract mucosa. Respiratory tract involvement is usually only found in certain types of EB. The oral cavity and oropharynx are involved more frequently than the hypopharynx, larynx and trachea. Involvement of laryngeal and tracheal mucosa is generally associated with an increased morbidity and mortality, numerous complications and therapeutic difficulties, and is more common in junctional EB and dystrophic EB than in EBS. We present a rare case of a child with EBS and plectin deficiency with pronounced lesions of respiratory tract mucosa from the oral cavity to the bronchi and even extending into the trachea. Deciding on tracheotomy requires thorough consideration and should not be taken lightly.