Irena Babić

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.

The importance of combined 24-hour multichannel intraluminal impedance-pH monitoring in the evaluation of children with suspected laryngopharyngeal reflux.

The aim of this study was to investigate the diagnostic usefulness of combined multichannel intraluminal impedance–pH (MII‐pH) monitoring in children with suspected laryngopharyngeal reflux (LPR).

Application of the procedural consolidation concept to surgical treatment of children with epidermolysis bullosa: a retrospective analysis

Aim To assess the efficacy of the procedural consolidation concept (PCC) at reducing the number of sessions of general anesthesia necessary for treating children with epidermolysis bullosa (EB). Methods We examined the records of children treated at Childrens Hospital of Zagreb between April 1999 and December 2007. Children treated before the introduction of PCC in January 2005 (n = 39) and after (n = 48) were analyzed in order to determine the effect of PCC on the occurrence of complications, days of hospitalization, and number of hospitalizations. Results During the study period, 53 patients underwent 220 sessions of general anesthesia for a total of 743 surgical interventions per session. Before the introduction of PCC (n = 39 patients, 83 sessions), the median number of interventions per session was 2 (range 1-5), and after the introduction of PCC (n = 48 patients, 137 sessions) it was 4 (range 3-7, P < 0.001). After the introduction of PCC, the median number of complications per anesthesia session increased from 2 (range 0-10) to 3 (range 0-10) (P = 0.027), but the median number of complications per surgical procedure decreased from 1 (range 0-10) to 0.6 (range 0-2.5) (P < 0.001). PCC lengthened each anesthesia session from a median of 65 minutes (range 35-655) to 95 minutes (range 50-405), (P < 0.001). Total length of hospitalization was similar before (median 1, range 1-4) and after (median 1, range 1-3) introduction of PCC (P = 0.169). The number of hospitalization days per procedure was 3 times lower after the introduction of PCC (median 0.3, range 0.2-3) than before (median 1, range 0.75-1.7) (P < 0.001). Conclusion PCC should be considered an option in the surgical treatment of children with EB.

Variation of vascular ring as a cause of extubation failure

We report on an unexpected extubation failure in a two year old boy. In our patient, failure of extubation led to a diagnostic examination. The result of our examination was discovery of a congenital anomaly of the aortic arch and great vessels (vascular ring) with compression of the trachea. The presence of this anomaly in this patient was unknown to us before. A successful surgical procedure eliminated the underlying cause of the persistent extubation failures. IVANČICA ŠKARIĆ ( )•

Combined multichannel intraluminal impedance-pH monitoring should be used to diagnose reflux-related otitis media with effusion in children

This study investigated the diagnostic usefulness of combined multichannel intraluminal impedance‐pH monitoring (MII‐pH) in children with suspected reflux‐related otitis media with effusion (OME) as existing data were scarce.

Lavage with diluted surfactant as a treatment option for atelectasis in pediatric intensive care patients

Incidencija kronicne upalne bolesti crijeva (Crohnova bolest i ulcerozni kolitis) u djece je zadnjih desetak godina u znacajnom porastu. Klinicka slika, posebice Crohnove bolesti, zbog niza ekstraintestinalnih manifestacija i intestinalnih komplikacija je vrlo raznolika i razlogom je postavljanja adekvatne dijagnoze sa znacajnim zakasnjenjem. Poznavanje klinicke slike, upotreba jednostavne laboratorijske dijagnostike, te dokazivanje bolesti endoskopijom i histoloskim pregledom sluznice probavnog trakta osnova su dijagnostickog algoritma. Bržim dijagnosticiranjem bolesti omogucit ce se bolje i adekvatnija terapija, a moguce i sprijeciti niz komplikacija ovih bolesti. Terapijski je pristup kronicnoj upalnoj bolesti crijeva u djece promijenjen u odnosu na lijecenje prije deset godina, a razlikuje se i od onog u odraslih osoba. U tekstu se navode najnoviji stavovi kako glede pristupa akutnoj fazi bolest tako i u održavanju remisije u pedijatrijskih bolesnika.

Pustišek N., Babić I., Kljenak A., Striber N., Wounds in children and epidermolysis bullosa

Bulozne epidermolize skupina su nasljednih bolesti karakteriziranih pojavom mjehura na koži i sluznicama kao posljedicom genetskih defekata u strukturnim proteinima kože. Klinicka slika pojedinih oblika i podoblika bolesti može bitno varirati. Terapijski pristup ovisi o obliku bolesti, jacini kožnog i sistemnog zahvacanja i sastoji se od suportivne terapije kutanih i ekstrakutanih manifestacija, te zahvaca multidisciplinarni pristup strucnjaka razlicitih specijalnosti. Njega kože ukljucuje zastitu od potencijalnih trauma, pravilnu njegu i lijecenje mjehura i rana te redovite dermatoloske kontrole zbog ranog otkrivanja kožnih tumora.