Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns

Introduction: Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis. Case Presentation: A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed to have asymmetric crying faces with deviation of angle of mouth to left side at the time of birth. The baby had normal faces while sleeping or silent. Mother was known case of hypothyroidism and was on treatment. Baby was diagnosed as case of Cayler Cardio-facial Syndrome and was investigated with echocardiogram, brain ultrasound, total body X-ray examination, X-ray of cervico-thoracic vertebral column and fundus examination. Echocardiogram showed muscular VSD, brain ultrasound was normal and fundus examination showed tortuous retinal vessels. Whole body X-ray and lateral X-ray of cervico-thoracic vertebral column were not suggestive of any skeletal abnormalities. The other associated malformation was right ear microtia. Baby FISH karyotype analysis showed deletion of 22q11.2 deletion. Baby was discharged and now on follow-up. Conclusions: Cayler syndrome is a rare syndrome which must be suspected if a baby has asymmetrical cry pattern and normal facies when baby sleeps. Patient must be evaluated with echocardiography to find out associated cardiac malformations. These infants should undergo FISH analysis for 22q11.2 deletion syndrome.

Presentation of Primary Open Angle Glaucoma (POAG) at Lions Sight First Eye Hospital in Blantyre, Malawi

Objective Primary open angle glaucoma (POAG) is the most common type of glaucoma in Africa. We carried out a study to determine the clinical presentation pattern of patients with primary open angle glaucoma (POAG) at a tertiary hospital in Malawi. Design A cross-sectional study Setting Lions Sight First Eye Hospital—a major referral and teaching state eye hospital in Blantyre, Malawi Subjects Study participants were newly diagnosed POAG patients at specialist eye clinic during study period. Results A total of 60 POAG patients were recruited into the study. The mean age was 58.7 years (SD= 16.6, range 18 - 86). There were more male (44, 73.3%) than female (16, 27.7%) patients. The majority of patients (73%) presented one year after onset of visual symptoms. Twenty-six patients (43%) had unilateral blindness (visual acuity < 3/60; WHO classification), while nine patients (15%) presented with bilateral blindness. A vertical cup-to-disc ratio (CDR) of 0.8 or worse was seen in 92 eyes (79%). The mean intraocular pressure (IOP) reading was 35.5 mmHg (SD 13.30). Of the thirty-three eyes that successfully underwent visual field analysis, very advanced defects were recorded in 12 eyes (36%). Conclusion This study demonstrates delayed presentation and male predominance among POAG patients at a tertiary eye hospital in Malawi. Glaucoma intervention programmes should aim at identifying patients with treatable glaucoma with particular attention to women.