Cerebrovascular accident leading to cortical blindness in a patient with bird-headed dwarfism

Abstract

We present a 12-year-old female with characteristic manifestations of bird-headed dwarfism (BHD). She was born full-term by normal vaginal delivery to a 33-year-old, G6, P5, SAB1 mother. Her parents are first cousins, and her two brothers and three sisters are healthy. Her birth weight, height and head circumference were 2120 gm, 45 cm and 32 cm, respectively. Metabolic and endocrine work-up were normal during infancy. Chromosome analysis was 46,XX. Bone marrow aspiration revealed hypercellularity. The present weight, height and head circumference are 7850 gm, 70 cm and 41.5 cm, respectively. She has a narrow face with beak-like protrusion of the nose, receding mandible, multiple small hyperpigmented skin lesions and scalp hair loss. She developed photophobia at age three years with a normal ophthalmologic examination. At age six years, she developed recurrent attacks of headache and nausea; the brain CT scan was normal. At age ten years, following unilateral paresis of the left leg, hematoma of the right occipital region was diagnosed, leading to infarction at both occipital lobes with cortical blindness and loss of speech several weeks later. Consequently, she was found to have hypertension, hypercholesterolemia, proteinuria, hypocalcemia, hyperphosphatemia and low parathormone levels. Due to critical condition of the patient, brain angiography was not feasible. The clinical manifestations in this patient expands the phenotypic spectrum of BHD.