Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report [Asimetrični plač novorođenčadi: mikrodelecija, infekcija ili porodna trauma? - prikaz slučaja]

Koši-Šantić, Kornelija and Rudan, Dijana and Buković, Damir and Šegregur, Jadranko and Wagner, Jasenka and Orešković, Slavko and Župić, Tomislav and Radan, Mirjana (2014) Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report [Asimetrični plač novorođenčadi: mikrodelecija, infekcija ili porodna trauma? - prikaz slučaja]. Collegium Antropologicum, 38 (1). pp. 331-335. ISSN 0350-6134

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Abstract

Asymmetric neonatal crying is a rare minor congenital abnormality caused by unilateral agenesis or hypoplasia of depressor anguli oris muscle and depressor labii inferioris muscle. It is either an isolated clinical finding or one of the clinical findings included in several malformation syndromes linked to a microdeletion within a chromosomal region 22q11.2. Some malformations in that region are associated with serious cardiovascular anomalies. Nowadays, standard diagnostic techniques for detecting aberrations within the chromosomal region 22q11.2 are fluorescence in situ hybridization (FISH) and multiplex ligation probe amplification (MLPA). This short report describes an eutrophic female newborn whose both lip corners are symmetrically positioned while at rest; while crying, left lip corner and left half of the lower lip are falling. She also has partial bilateral syndactyly between second and third toe, open foramen ovale and by ultrasound detected hyperechogenic region in the thalamus and brain parenchyme. Aiming to investigate etiopathogenesis of the newborn asymmetric crying and accompanying minor abnormalities, we have tried to verify or exclude: microdeletion syndrome, TORCH infection and birth injury. Recognising such a paresis soon after the delivery is of great importance and can be helpful in detecting other accompanying anomalies, especially cardiovascular anomalies.

Abstract in Croatian

Asimetrični plač novorođenčadi je rijetka minor kongenitalna anomalija čiji je uzrok jednostrana ageneza ili hipoplazija mišića depressor anguli oris i depressor labii inferioris, često izolirani nalaz ili povezana s drugim kongenitalnim anomalijama, posebno kardiovaskularnim. Mikrodelecije locirane na kromosomu 22q11.2 uzrokom su nekoliko malformacijskih sindroma koje se u pojedinih bolesnika češće međusobno kombiniraju. Današnji standardni dijagnostički postupci za otkrivanje aberacija unutar kromosomske regije 22q11.2 su fluorescentna in situ hibridizacija (FISH) te metoda višestrukog umnažanja vezanih sondi (MLPA). U radu je prikazano donošeno eutrofično žensko novorođenče u kojega nalazimo u mirovanju simetrično položena oba usna kuta dok u plaču lijevi usni kut i lijeva polovica donje usnice zaostaju, parcijalnu sindaktiliju drugog i trećeg prsta oba stopala, otvoreni foramen ovale i ultrazvučno prikazane hiperehogene areale u talamusu i parenhimu mozga.Zbog upadljivog fenotipa, s ciljem diferencijalno-dijagnostičkog razjašnjenja etiopatogeneze asimetričnog plača novorođenčeta, odnosno udruženih minor malformacija, dijagnostičkom obradom nastojali smo dokazati, odnosno isključiti, mikrodelecijski sindrom, TORCH infekciju, odnosno porodnu traumu. Važnost prepoznavanja ove pareze odmah po porodu je u otkrivanju drugih povezanih anomalija, posebno kardiovaskularnih.

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