Septooptička displazija u djece liječene u Klinici za pedijatriju KBC Zagreb u razdoblju od 2012. do 2022.

master's thesis

• Title (english): Septooptic dysplasia in children treated at the Department of Pediatrics University Hospital Center Zagreb from 2012 to 2022
• Author: Jelena Koprivica
• Mentor: Nevena Krnić (mentor)
• Committee member: Katja Dumić Kubat (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Nevena Krnić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

UVOD
Septooptička displazija je rijetka razvojna anomalija mozga karakterizirana prisutnošću (1) hipopituitarizma, (2) hipoplazije vidnog živca i/ili (3) strukturnih anomalija središnje linije mozga. Bolesnici mogu imati i druge pridružene bolesti. Endokrini poremećaji mogu biti prisutni već po rođenju ili se mogu razvijati tijekom života, u rasponu od izoliranog manjka pojedinih hormona hipofize do panhipopituitarizma. U većine bolesnika uzrok je nepoznat. Dijagnostika i liječenje zahtijevaju multidisciplinarni pristup.

MATERIJALI I METODE
U istraživanju je provedena retrospektivna analiza epidemioloških, kliničkih, radioloških i laboratorijskih podataka iz medicinske dokumentacije za bolesnike kojima je postavljena dijagnoza septooptičke displazije u razdoblju od 1.1.2012. do 31.12.2022., liječenih u Zavodu za endokrinologiju i dijabetes Klinike za pedijatriju Kliničkog bolničkog centra Zagreb.

REZULTATI
Istraživanjem je obuhvaćeno 14 bolesnika, s omjerom dječaka i djevojčica 1:1, kod kojih je dijagnoza postavljena na temelju kliničkih kriterija u prosječnoj dobi od 3 godine i 5 mjeseci (u 71,43% prije navršene treće godine života). Sva tri obilježja koja čine klasičnu trijadu simptoma imao je 87,14%. Svi bolesnici u našoj ispitivanoj skupini imali su hipoplaziju vidnog živca (85,17% bilateralna). U 85,71% ispitanika utvrđena je anomalija septum pelludicuma i/ili corpus callosuma, a poremećaj funkcije hipofize nađen je u 71,43% bolesnika (sekundarna hipotireozu (9/10), sekundarna adrenalna insuficijencija (9/10) te manjak hormona rasta (8/10) sa (3/10) ili bez dijabetes insipidusa). Kriterije za SOD-plus sindrom ispunjava 28,57% ispitanika. U većine bolesnika simptomi su uočeni već u neonatalnoj dobi. Osim klasičnih simptoma opisani su i drugi pridruženi poremećaji i dizmorfične stigme (najzastupljenija su odstupanja u psihomotornom razvoju, u 13/14 bolesnika).

ZAKLJUČAK
Septooptička displazija rijetka je kompleksna bolest koja zahtijeva multidisciplinarni pristup u dijagnostici i liječenju. Najzastupljeniji simptom (ujedno i najčešći uzrok sumnje) je hipoplazija vidnog živca koja je bila prisutna u svih bolesnika. Najčešći pridruženi poremećaj činila su odstupanja u neurološkom razvoju. Poremećaj funkcije hipofize može se razvijati u bilo kojoj životnoj dobi te je važno trajno praćenje ovih bolesnika. Zbog složene simptomatologije važno je pravovremeno prepoznati bolest kako bi se bolesnicima osigurala optimalna skrb.

Abstract (english)

INTRODUCTION
Septooptic dysplasia is a rare developmental brain anomaly, characterized by the presence of (1) hypopituitarism, (2) optic nerve hypoplasia, and/or (3) structural anomalies of the midline of the brain. Patients may also have other associated diseases. Endocrine disorders can be present at birth or can develop during life, ranging from isolated to multiple pituitary hormone deficiencies. In most patients the etiology remains unknown. Diagnosis and treatment require a multidisciplinary approach.

MATERIALS AND METHODS
We conducted the retrospective analysis of medical records (epidemiological, clinical, radiological and laboratory data) for patients diagnosed with septooptic dysplasia in the period from 1st January 2012 until 31st December 2022 treated at the Department of Endocrinology and Diabetes of the Department of Pediatrics University Hospital Center Zagreb.

RESULTS
The research included 14 patients, with a 1:1 ratio of boys and girls, in whom the diagnosis was made based on clinical criteria at an average age of 3 years and 5 months (in 71.43% before 3 years of age). All three features of the classic triad of symptoms were present in 87.14% patients. All patients in our study had optic nerve hypoplasia (85.17% bilateral). Anomalies of the septum pelludicum and/or corpus callosum were found in 85.71%, and pituitary dysfunction was found in 71.43% of patients (secondary hypothyroidism (9/10), secondary adrenal insufficiency (9/10) and growth hormone deficiency) (8/10) with (3/10) or without diabetes insipidus). The criteria for SOD-plus syndrome was met by 28.57% of patients. In the majority of patients, the symptoms were observed in the neonatal period. Other associated disorders and dysmorphic stigmas were also described (the most common is psychomotor development delay in 13/14 patients).

CONCLUSION
Septooptic dysplasia is a rare, complex disease that requires a multidisciplinary approach in diagnosis and treatment. The most common symptom (also the initial symptom at presentation) is the optic nerve hypoplasia (present in all our patients). The most common associated disorders were neurological development disorders. Pituitary hormone deficiency can develop at any age, so these patients require lifelong followup. Due to disorders of multiple systems it is important to recognize these patients in time, in order to ensure optimal care.

• Keywords: septo-optička displazija; hipoplazija optičkog živca; hipopituitarizam; malformacije živčanog sustava
• Keywords (english): septo-optic dysplasia; optic nerve hypoplasia; hypopituitarism; nervous system malformations
• Language: croatian
• URN:NBN: urn:nbn:hr:105:122521
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-10-25 11:05:57