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Permanent junctional reciprocating tachycardia (PJRT) is a rare form of congenital arrhythmia occurring predominantly in infants and children. Prenatal presentation is frequently characterized by incessant tachycardia leading to dilated cardiomyopathy (DCM). Some patients can have a normal heart rate which leads to a delayed diagnosis. We report a case of a neonate who was presented prenatally with DCM, fetal hydrops, and no signs of fetal arrhythmia. Diagnosis of PJRT was established after delivery with characteristic electrocardiographic patterns. Successful conversion to sinus rhythm with digoxin and amiodarone was achieved three months later. At 16 months of age, both echocardiography and electrocardiography were normal.

Vein of Galen aneurysmal malformation (VGAM) is a complex congenital cerebro-vascular malformation. Despite some controversy, the overall prognosis of VGAM has improved over time. We present a series of VGAM patients with hyperdynamic heart failure during the neonatal period treated in our Department in the past 20 years.

We report the case of a full term male child with multiple organ dysfunctions caused by mutations of the TTN gene

Although rare, cardiac rhabdomyomas (CRs) are the most common fetal cardiac tumors. They may be the earliest manifestation of tuberous sclerosis complex (TSC). TSC is diagnosed in 75-80% cases of multiple fetal CRs and in 30% of single cases. We retrospectively reviewed the clinical outcome of fetal CR cases. All cases of prenatally diagnosed rhabdomyoma in a single tertiary centre from 2009 to 2019 were ascertained from medical records.

Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) or glutaric aciduria type II is a rare, autosomal recessive disorder of fatty acid and amino acid oxidation. Disease is caused by pathogenic mutations in ETFA or ETFB genes, which encode two subunits of electron transfer flavoprotein (ETF), or ETFDH gene, encoding for ETF-dehydrogenase. Phenotype is heterogenous, from severe neonatal acute metabolic decompensation, with or without congenital anomalies, to milder, late onset forms. Diagnosis is made by acylcar- nitine and urinary organic acid analysis, and gene testing. Treatment is based on restricted fat and protein intake, high carbohydrate diet, with carnitine, riboflavin and CoQ10 supplementation.

Mitochondrial DNA depletion syndromes (MDS) are a group of autosomal recessive disorders caused by disruption of mtDNA maintenance that results in reduced mtDNA content and disturbed energy production. MDS are genetically and phenotypically heterogeneous. One common phenotype is the hepatocerebral form that manifests in first months of life and causes early death due to liver failure. Liver transplantation (LTx) in not recommended in patients with neurological involvement. Our objective is to raise awareness about the clinical spectrum of early onset liver failure due to MDS. We report clinical course and genotype of four patients with hepatocerebral form of MDS.

Multiple intestinal atresia (MIA) is a congenital malformation disorder in which atresia occurs at multiple levels throughout the gastrointestinal tract, most commonly small bowel. Frequently it presents as an isolated anomaly, but also as a part of a complex inherited disorder caused by homozygous or compound heterozygous mutation in tetratricopeptide repeat domain 7A (TTC7A) gene. These patients usually have associated mild or severe combined immunodeficiency. Herein we report an infant with MIA and associated combined immunodeficiency (CID).

The low availability of folic acid or vitamin B12 in the early pregnancy and consequent mother’s hyperhomocysteinemia are associated with the risk of having a child with congenital heart disease. The goal of this study was to determine whether homocysteine itself is a risk factor for congenital heart disease or changes in methylation biomarkers S-adenosyl-methionine (AdoMet) and S- adenosylhomocysteine (AdoHcy) and methylation potential are responsible for a higher incidence of congenital heart disease.

Kaposiform hemangioendothelioma (KHE) is extremely rare, life- threatening vascular tumor with estimated incidence of 0.071 cases per 100.000 children. It is notably associated with Kasabach- Merritt phenomenon (KMP), a condition characterised by profound thrombocytopenia, hypofibrinogenemia, and elevated markers of coagulation activation (D-dimers or fibrin degradation products). Mortality is highly associated with degree of coagulopathy. Patients diagnosed prenatally appear to have increased disease severity. Optimal therapy for KHE is not known. Oral steroids and vincristine for patients with inoperable tumors is most commonly reported, but is associated with limited response and significant side effects. Sirolimus (rapamycin), a mammalian target of rapamycin (mTOR) inhibitor, is currently being tested in a prospective phase II clinical trial. Here we present a full-term newborn prenatally diagnosed with giant vascular tumor, affecting the lateral neck.

Hereditary coproporphyria (HCP) is an autosomal dominant disorder of haem synthesis caused by mutation in CPOX gene. Majority of heterozygotes remain asymptomatic throughout life and disease onset before puberty is exceedingly rare. Only two patients with neonatal-onset HCP heterozygous for a CPOX pathogenic variant have been described in literature so far.

The purpose of this study was to characterize the population and evaluate risk factors, surgical treatments and short-term outcomes in preterm infants with surgical necrotizing enterocolitis (NEC). We retrospectively evaluated premature infants with surgical NEC over a period of 5 years (2015-2019) in a Croatian tertiary referral centre.

The aim of this study was to compare MRI findings in preterm infants at term age with cranial ultrasounds as predictors in the assessment of neurodevelopment outcomes and need for early habilitation procedures.

Kongenitalna duodenalna opstrukcija je gastrointestinalna anomalija s incidencijom od 1 na 2500 do 10000 živorođene djece koja se tradicionalno liječi pristupom kroz laparotomiju. U protekla dva desetljeća u literaturi je sve više izvješća o laparoskopskoj duodenoduodenostomiji. Prednosti su minimalno invazivnog pristupa kraće vrijeme do početka peroralnog unosa, kraće vrijeme do potpunoga enteralnog unosa i kraće vrijeme hospitalizacije te bolji kozmetički izgled. U ovom radu prikazujemo novorođenče kod kojega je uspješno napravljena laparoskopska duodenoduodenostomija s osvrtom na literaturu. Radi se o djetetu rođenom na termin, kod kojega smo treći dan života pod kliničkom slikom visoke intestinalne opstrukcije i radiološkim znakom dvostrukog balona postavili dijagnozu duodenalne opstrukcije. Intraoperacijski je nađen anularni pankreas kao uzrok opstrukcije. Postoperacijski tijek je protekao bez komplikacija, osmi dan je postignut potpuni enteralni unos, a dijete je otpušteno kući deveti postoperativni dan. Radi se o prvoj takvoj operaciji u Hrvatskoj., Congenital duodenal obstruction is one of the most common variants of intestinal atresia which is traditionally managed by laparotomy. In the last two decades there have been more reports of laparoscopic duodenoduodenostomy in neonates. Advantages of minimally invasive surgery are reduced time to initiation and completion of full enteral feeding, and shorter length of postoperative hospitalization. Here, we report a case of a successful laparoscopic duodenoduodenostomy and review the relevant literature. The child was born full term, on the third day of life she had clinical and radiological signs of duodenal obstruction. During the operation we found annular pancreas as a cause of duodenal obstruction. The postoperative period was uneventful, on the eighth day she was on full enteral feeding and was discharged home on the ninth postoperative day. This is the first neonatal laparoscopic duodedenoduodenostomy in Croatia.

Gastroschisis is a congenital malformation characterised by prolapse of the abdominal organs through the anterior abdominal wall defect. Although the survival rate of patients in the present age exceeds 90%, some patients have significant short-term complications that are largely determined by associated malformations and the degree of damage of the prolapsed bowel. The aim of this study was to analyse the short-term outcomes (up to hospital discharge) of a cohort of patients with gastroschisis and to examine whether the outcome was related to the associated intestinal malformations /complications.

Rani neonatalni mortalitet (RNM) predstavlja smrtnost na 1000 sve živorođene djece neovisno o dobi trudnoće ili o porodnoj težini u prvih sedam dana života (168 sati).

Hipoglikemija je najčešći metabolički poremećaj u neonatalnom razdoblju. Premda je skrining rizične novorođenčadi i liječenje hipoglikemije u prvim satima i danima života uobičajena praksa u jedinicama intenzivnog liječenja, još uvijek nema konsenzusa u definiranju neonatalne hipoglikemije.

U svrhu sprječavanja nastanka bilirubinske encefalopatije izrađene su smjernice koje naglašavaju važnost sustavnog provođenja procjene rizika od nastanka teške hiperbilirubinemije u svakog novorođenčeta prije otpusta iz rodilišta, ranog i ciljanog praćenja TB na temelju prethodne procjene rizika i pravovremenog liječenja kada je to potrebno. Ove smjernice odnose se na novorođenčad gestacije ≥35 tjedana.

Neonatalna hemokromatoza je rijetka bolest, ali najčešći uzrok akutnog zatajenja jetre u novorođenčadi. Karakterizira je visoka perinatalna smrtnost i pobol. Često prisutne komplikacije trudnoće poput oligohidramnija, intrauterinog zastoja rasta, habitualnih pobačaja, mrtvorođenja i prijevremenog porođaja upućuju na to da bolest počinje prije rođenja. Nove spoznaje o njezinoj etiologiji i patogenezi potpuno su promijenile dosadašnji dijagnostički i terapijski pristup i poboljšale ishod bolesnika. Neonatalna hemo- kromatoza se danas smatra aloimunosnom bolešću i naziva gestacijskom aloimunosnom bolešću jetre. Pokazalo se da imu- nomodulatorna terapija intravenskim imunoglobulinima prije porođaja sprječava nastanak bolesti u ploda. Liječenje oboljele novo- rođenčadi nakon porođaja, prethodno temeljeno na antioksidativnim i kelacijskim lijekovima, danas je uspješno zamijenjeno eksangvinotransfuzijom i intravenskim imunoglobulinima. Ovaj pregledni članak sažima najnovija otkrića o etiologiji neonatalne hemokromatoze i navodi preporuke za liječenje i prevenciju bolesti.

Cilj liječenja undulacije atrija je što ranija uspostava sinusnog ritma nakon djetetova rođenja. Najprije se započinje antiaritmicima, sotalolom 2 - 6 mg/kg/dan te propafenonom 10 mg/kg/dan i digoksinom 0, 2 mg/m2. Navedenim se antiaritmicima postiže kontrola frekvencije (usporenje undulacije atrija, skraćenje refraktornosti AV - čvora), ali rijetko se uspostavlja sinusni ritam. Najbolji rezultati liječenja se postižu sinhroniziranom kardioverzijom (0, 5 - 1 J/kg) u hemodinamski stabilnih pacijenata, nakon isključenja tromba u srcu. Undulacija atrija, u odsutnosti drugih aritmija te strukturnih srčanih grešaka, ima mali rizik od recidiva te ima izvrsnu prognozu. U takvim slučajevima nije potrebna dugotrajna antiaritmijska terapija.

Prikaz bolesnice s kongenitalnom sijalidozom tipa II

U radu su analizirani kratkoročni ishodi u kohorti bolesnika s gastroshizom, liječene u KBC-u Zagreb tijekom desetogodišnjeg razdoblja (2007. - 2017. god.) i razlika ishoda s obzirom na pridružene intestinalne anomalije/komplikacije.