A new syndrome or an extension of Vater Syndrome?

Background: Esophageal atresìa (EA) with distai fistula, elso called III type. represenrs che most commcn form of EA, with a frequency of l case in 4000. often associated with other congenital anomallcs. VATER syndrome represents a non-random etiologically diverse assocìatìon of vertebral defects, anal atresiu, tracheo-esophageal fistula and radiai or renal defects. Wc describe a uovel multiple malformation pattem, characterized by tracheal stenosìs, type II laryngeal web, esophageal atresìa (EA) with distal fìstula, vestìbular fìstula (VF), atrial septal defect (ASO) and patency of the ductus arteriosus (PDA), never reported in literature Case report: Newbom with normal delivery at the end of pregnancy with polydramnios seen by an uhrasonographic examination, birth weighr 2.80 Kg and length 45.6 cm. At binh Apgar score was 7 and 8 ar l' and 5' min, respectìvely. lnsenìon of a nasal-gastric probe was immediately tried, with an obstacle to progression. An immediate X-ray thorax-abdomen showed 'a stop of the radiopacal nose-gastric probe at level of 04, with a back-banding, arousing suspection of EA'. Moreover, the presence of air in the digestive tube induced to suppose the presence of a tracheeesophageal fistula, The examìnarìon of the perineal region showed an anorectal malfonnation (VF) with regular cenalizatìon and immediate emission of meconio. An ultrasonographic exam of the hearth showed the presence of ASD and PDA. An optic fibers laryngscope, used for repeated episodes of crisìs of apnea witb cyanosis and bradycerdia, sbowed the presence of an anterior Il type laryngea! web. A nucJear magnetic resonance (MRl) pointed out tbe presence of a trachea! stenosis involving a wide feature of tracheal lume. Cariorype asset was examined without finding any ehromosomic alteration. Treatment: On me second day of life, tbe parienr underwent surgery in order to correct the EA through a righi posterolateral toracotomy 00 me fourth imercostal space. An extrapleuric surgical approach was performcd and a distai tracheoesophagel fistula was isolated during the surgical exploratìon. A resectìon of the laryngeal web was performed by means of laser C02. Unfcrtunately, this procedure did not give appreciable improvements ofthe respiratory dynamics and the patient dlcd in sixtyfourth day of life, during a serious respiratory crisìs. Discussion: Il could be consìdered an originai syndrome Iike an expansion of VATER association. In faet, the concomitant presence of trachea! srenosis and EA rakes piace rarely, and the correlauon between these two defects is liule' studied. If it is taken into account the concomitant presence of a laryngea! web of II type, such an association appears unique. More observations will be necessary. along with in-depth genetic studies, to dctermine the cause and the genetie transmission of this multiple malforrnation syndrome.