A Preterm Infant with Prolonged Respiratory Problems Due to Ritscher-Schinzel Syndrome
Yurttutan, S., Oncel, M. Y., Yurttutan, N., Altug, N., Erdeve, O., Dilmen, U., Genetic Counseling
Summary: A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome: Ritscher-Schinzel also known as cranio-cerebello-cardiac (3C) syndrome is a very rare clinical entity. The striking features of this syndrome are cerebellar, cardiac and craniofacial abnormalities. Life threatening features of this syndrome are generally associated with cardiac abnormalities. We here present prolonged respiratory problems due to pulmonary hypertension in a preterm baby with Ritscher-Schinzel syndrome.
Key-words: Ritscher-Schinzel syndrome - Pulmonary hypertension - Respiratory problems.
Ritscher-Schinzel syndrome is a very rare condition and so far nearly fourty cases are reported all over the world, mostly from North America, Europe and Arabic region (2, 5, 6). This syndrome was firstly described in two sisters with congenital heart malformation, cerebellar and craniofacial anomalies in 1987 by Ritscher et al. The diagnosis of Ritscher-Schinzel syndrome depends on clinical signs (5). The main features of cranio-cerebello-cardiac (3C) syndrome are congenital heart defect, Dandy-Walker malformation and dysmorphic facial features including prominent forehead, depressed nasal bridge, downslanting palpebral fissures and hypertelorism. Cardiac anomalies include ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), tetralogy of Fallot, hypoplastic left heart syndrome, pulmonary stenosis and other valvular anomalies (5). Life threatening features of this syndrome are generally associated with cardiac abnormalities. We here present a preterm baby with Ritscher-Schinzel syndrome with severe respiratory problem and pulmonary hypertension (PH).
A preterm infant was born after a normal pregnancy by normal delivery (weight 1,970 gram) after 35 weeks of gestation to a 30-year-old primigravid woman. The parents are second cousins. There was not any similar clinical history in both parent's families. No exposure to drugs or alcohol during the pregnancy was reported.
The patient's length was 45 cm (75th percentile) and head circumference 33 cm (75-90 percentile). Micrognathia, cleft palate, low-set ears, short neck, camptodactyly and heart murmur were noted (Fig. 1). She also had severe chest retraction and groaning. Ribs and vertebrae were normal. The infant was admitted to the neonatal intensive care unit (NICU) and her respiratory distress progressively worsened. Abdominal ultrasound showed bilateral mild hydronephrosis with a normal sized bladder. Echocardiographic examination revealed pulmonary hypertension and multiple VSD. Ophthalmologic examination was normal. Chromosome analysis showed a normal female karyotype.
Brain MRI showed Dandy- Walker malformation, corpus callosum hypoplasia and retrocerebellar cyst. The lateral and third ventricles were dilated due to non-obstructive hydrocephalus (Fig. 2).
Despite appropriate respiratory support the respiratory status of the infant worsened in the NICU and could not be extubated. During follow up, the baby was diagnosed with severe bronchopulmonary dysplasia (BPD) and heart failure associated with pulmonary hypertension. On the second month of live, she still needed further cardiorespiratory support.
Although Ritscher-Schinzel syndrome is a recognizable entity, it is very rare in the literature. Therefore, there are no studies on the incidence and prevalence of the Ritscher-Schinzel syndrome. The diagnosis of Ritscher-Schinzel syndrome only depends on typical clinical signs (5). Leonardi et al. reported that the clinical criteria for the diagnosis of Ritscher-Schinzel syndrome are as follows:
1) Congenital heart malformations except belated patent ductus arteriosus,
2) Dandy- Walker spectrum, cerebellar vermis hypoplasia, or enlarged cisterna manga, Cleft palate, ocular coloboma, or four of the following signs: prominent occiput, prominent forehead, hypertelorism, micrognathia, down-slanting palpebral fissures, and depressed nasal bridge. …