Abstract Ref Number = APCP1212
PNEUMONIA IN ONE-MONTH OLD INFANT WITH MULTIPLE CONGENITAL ANOMALY SUSPECT OF ESCOBAR SYNDROME
KARINA FIRDAUS,Amar Widhiani
General Practitioner Harapan Kita Women and Children Hospital Jakarta Pediatric Infection Division, Department of Pediatrics Harapan Kita Women and Children Hospital, Jakarta
Background : Escobar Syndrome (ES) is a non-lethal type of multiple pterygium syndrome characterised by webbing of skin and lack of muscle movement that occur before birth. Usually effecting neck, fingers, elbows, and knees with distinctive facial features. Other problems associated with breathing problems such as neonatal respiratory distress and pulmonary hypoplasia is reported
Case Presentation Summary : A one-month male preterm with low birth weight patient presented with difficulty of breathing, cough with no fever since 2 weeks before admission. There was no breathing problems or cyanosis reported at birth. Patient was birthed spontaneously, breastfed and discharged after 5 days. Patient is the 3rd child with a history of miscarriage on first pregnancy and family history of multiple miscarriages. On examination, patient had dysmorphic face with short & webbed neck, pansystolic murmur, with multiple congenital anomalies such as triangular face, antimongoloid slant eyes, high nasal bridge, abnormal large low set ears, micrognathia, camptodactyly, and limited mobility of elbows and knees. Based on dyspnea, leukocytosis (20.540), and thorax x-ray (infiltrate on apex and paracardial right lung), diagnosis of pneumonia was concluded. Based on murmur and echocardiography (ventricular septal defect and tricuspid regurgitation), congenital heart disease was concluded. Genetic testing could not be conducted because of financial issues but was concluded as suspect Escobar Syndrome based on clinical diagnosis by genetic specialist.
Learning Points/Discussion : ES is a non-lethal rare syndrome but should be suspected especially in history of multiple miscarriages. Treatment is based on the congenital defects and comorbidities, in this case, pneumonia, therefore physiotherapy and infection control are the main treatments. Although cognitive development are usually normal, defects potential resulting delayed development on other aspects demands need of long term observation.
Keywords: pneumonia escobar syndrome multiple congenital anomaly