ABSTRACT
We report an atypical presentation of endophthalmitis in a 2-month-old infant due to a rare infection by Pasteurella canis, small Gram-negative coccobacilli that inhabit the oral cavity and the gastrointestinal tracts of animals, including domesticated cats and dogs. Ocular infections are mainly associated with animal bites and scratches.
Subject(s)
Endophthalmitis , Pasteurella Infections , Pasteurella , Humans , Endophthalmitis/diagnosis , Endophthalmitis/drug therapy , Pasteurella/isolation & purification , Pasteurella Infections/diagnosis , Pasteurella Infections/drug therapy , Pasteurella Infections/complications , Male , Infant , Vitreous Hemorrhage/etiologyABSTRACT
A boy in his early childhood was brought for a comprehensive eye examination as advised by a paediatrician. The child had plagiocephaly, absent left ear (anotia), facial asymmetry, deviation of mouth to the left side, receding chin and teeth, scoliosis and a Mongolian spot on the lower back. There was also absence of seventh and eighth cranial nerves on the left side on MRI of the brain. Echocardiography showed a small ventricular septal defect and a single umbilical artery. Gross motor milestones were delayed and on ocular examination, the child showed right eye preference and retinochoroidal coloboma in the left eye. The child was managed with a multidisciplinary approach involving the paediatrician, ENT specialist, ophthalmologist, clinical geneticist and rehabilitative services. The child was managed conservatively with spectacles and occlusion therapy of the right eye, and genetic counselling was given along with a left hearing aid and rehabilitation.
Subject(s)
CHARGE Syndrome , Goldenhar Syndrome , Scoliosis , Male , Child , Humans , Child, Preschool , Goldenhar Syndrome/diagnosis , Goldenhar Syndrome/therapy , Goldenhar Syndrome/genetics , Ear , Facial AsymmetryABSTRACT
BACKGROUND: This report describes a very rare case of progeroid syndrome of De Barsy (Cutis laxa-corneal clouding syndrome). MATERIALS AND METHODS: A 2 year-old child presented to the pediatric ophthalmology outpatients with bilateral congenital corneal opacification along with dysmorphic facial features, including loose wrinkled skin, progeroid appearance, delayed milestones, short stature, multiple hyper-extensible joints, muscular hypotonia, pectus excavatum and congenital dislocation of the hip joint. The child underwent a detailed ophthalmic work up and systemic evaluation by a clinical geneticist. RESULTS: Ophthalmic management in the form of bilateral sequential penetrating keratoplasties and a left eye trabeculectomy for medically uncontrolled angle-closure glaucoma was performed. Visual rehabilitation with glasses and amblyopia therapy is ongoing. Histopathology of the corneal button revealed loss of the bowman's layer which was replaced by a fibrous pannus while the stroma showed loss of stromal lamellar architecture with anterior and mid stroma showing vascularization. Genetic testing confirmed a mutation in the PYCR1 gene for a homozygous autosomal recessive cutis laxa type IIB. CONCLUSIONS: Although rare, De Barsy syndrome is an important cause of corneal opacification at birth with multiple systemic abnormalities that requires intervention.
