Objective -To present a case of hypoparathyroidism that was found to be a part of a rare chromosomal syndrome and to emphasize the importance of its early diagnosis. Case reports -We report the case of a neonate with hypoparathyroidism and dysmorphic features. The chromosome analysis detected terminal deletion of chromosome 10p13. The diagnosis was made of HDR (hypoparathyroidism, sensorineural deafness and renal disease) syndrome due to haploinsufficiency of the GATA-3 gene located on 10p. We searched for additional manifestations of 10p deletion and developed an early management plan in order to prevent complications and improve the prognosis. Conclusion -Chromosomal aberration should be suspected in any neonate with dysmorphic features and intrauterine growth retardation, but the presence of hypoparathyroidism may prompt targeted evaluation for particular chromosomal areas, including 10p.
Poremećaji metabolizma kalcijuma i magnezijuma nisu rijetki u novorođenačkom uzrastu. Hipokalcemijai hipomagneziemija se javlja u brojnim stanjima koji su vezani za poremećaj metabolizma vitamina D i paratireoidnoghormona (PTH) ili sa nedovoljnim uvosom kalcija i magnezija. Najčešće se otkriva kod novorodjenčadi majki sa diabetesmelitusom, novorođenčadi sa malom tjelesnom masom, kod prematurusa, novorođenčadi sa ranom i kasnom tetanijomi konvulzijama, u malapsortivnom sindromu. Neonatalna hipokalcemija se definiše kao vrijednost ukupnog kalcija ispod1,76 mml/l za prematurusa i ispod 2 mmol za terminsko, ili kada je vrijednost jonizovanog kalcija 0.75 odnosno 1,1mmol/l. Hipomagneziemija se definiše kao koncentracija magnezijuma niža od 1,2 mg/dl(0,75 mmol/L).
Introduction: Say-Barber-Biesecker-Young-Simpson syndrome is a very rare hereditary disorder characterized by very distinctive facial features, multiple congenital anomalies, hypotonia, feeding difficulties, and global developmental delay. It is caused by a heterozygous mutation in the KAT6B gene and shares several phenotypic features with genitopatellar syndrome, another disorder associated with this gene. Twenty cases have been described in the literature so far.Case report: Herein, we present a case of a boy with Say-Barber-Biesecker-Young-Simpson syndrome which was recognized in early infancy at the Children's Hospital in Banja Luka and confirmed by genetic analysis at age one. The boy had a characteristic facial appearance with a mask-like facies, blepharophimosis, agenesis of the corpus callosum, cleft palate, atrial septal defect, genital and skeletal anomalies, hypotonia, breathing and feeding problems. Clinical exome sequencing identified a pathogenic heterozygous frameshit variant, c.4205_4206delCT of KAT6B gene, which was revealed by segregation analysis as de novo mutation. The results of genetic testing confirmed the clinical diagnosis of SBBYSS, which we found useful in anticipating and identifying other potential health and development issues in this boy. Also, we were able to give the parents information on the low family's recurrence risk.Conclusion: This study highlights the importance of clinical and genetic testing used to confirm the diagnosis of this rare disorder and it also provides additional evidence for the correlation between KAT6B gene and Say-Barber-Biesecker-Young-Simpson syndrome.Klinika za dječije bolesti, Univerzitetski klinički centar Republike Srpske, Bosna i Hercegovina Abstrakt Uvod: Sindrom Say-Barber-Biesecker-Young-Simpson je vrlo rijedak nasljedni poremećaj koji se odlikuje karakterističnim izgledom lica, višestrukim kongenitalnim anomalijama, hipotonijom, problemima hranjenja i globalnim razvojnim zaostajanjem. Uzrokovan je heterozigotnom mutacijom u KAT6B genu i dijeli mnoge fenotipske karakteristike sa genitopatelarnim sindromom, drugim poremećajem povezanim sa ovim genom. Do sada je u literaturi opisano dvadeset slučajeva ovog sindroma.Prikaz slučaja: Prikazan je slučaj dječaka sa sindromom Say-Barber-Biesecker-Young-Simpson sindromom koji je klinički prepoznat u ranom dojenačkom uzrastu na Klinici za dječije bolesti u Banjoj Luci i potvrđen genetičkom analizom u dobi od godinu dana. Dječak ima tipičan izgled lica poput maske, blefarofimozu, ageneziju korpus kalozuma, rascjep nepca, atrijalni septalni defekt, anomalije genitalija, anomalije skeleta, hipotoniju, probleme sa disanjem i hranjenjem. Sekvenciranjem kliničkog egzoma kod njega je identifikovana patogena heterozigotna frameshit varijanta c.4205_4206delCT u genu KAT6B za koju je segregacionom analizom utvrđeno da je kod dječaka novonastala. Rezultati genetičkih analiza su potvrdili kliničku dijagnozu SBBYSS, pomogli su nam da predvidimo druge moguće zdravstvene i razvojne probleme kod ovog dječaka i damo rodit...
Retinopathy of prematurity (ROP) is a potentially blinding eye disorder that primarily affects premature infants. Our study was conducted in order to determine which risk factors lead to the development of retinopathy of prematurity. This retrospective study included 108 newborns with birth weight (BW) < 1500 g and gestation age (GA) < 33 weeks, over the period of two years, who were treated at the Clinic of Pediatric, University Hospital, Clinic Centre Banja Luka. In all preterm children, the impact of risk factors conditioned preterm birth (gestational age and birth weight), parameters of general health status (respiratory distress syndrome, apnea, perinatal asphyxia, frequent use of blood derivatives, sepsis, hyperbilirubinemia) and parameters of the treatment with oxygen therapy. Out of 108 infants who fit the screening criteria, ROP was detected in 64 (59.2%) infants, 21(19.4%) of which had severe ROP requiring surgical intervention. Severe ROP was expressed in only 7.8% (5/64) of infants with GA > 30 weeks and in 12.5% (8/64) of infants with BW > 1250 g, compared to 25% (16/64) of infants with GA < 30 weeks and 20.3% (13/64) of infants with BW < 1250 g. The incidence of severe ROP was statistically significantly more frequent with progressively smaller birth weight BW < 1250 g (p <0.01) and the lower GA (gestational age) < 30 weeks (p <0.01). Using multiple logistic regression analysis for ROP, a long-term oxygen therapy (OR,15:54CI, 1.99-120.79) and a long duration of mechanical ventilation (OR,9.97; CI,3.06-32.51), there were obtained factors with a strong connection to the development of severe ROP. The following factors have a slightly lower correlation to the development of severe ROP: birth weight < 1250 g, gestation age < 30 weeks, respiratory distress syndrome, apnea, frequent use of blood derivatives and early sepsis. Prematurity and low birth weight are significant risk factors for the development of ROP. Compromised pulmonary function with long-term oxygen therapy and frequent use of blood derivatives are important factors in the development of severe ROP.
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