The patient was diagnosed with a heart defect (tetralogy of Fallot with pulmonary atresia) before she was born, which was repaired after birth. She was also found to have problems with the connection between her brain and spinal cord (Chiari I malformation) and the spinal cord itself (tethered cord). She … read more
Since birth, the patient has had visual impairment and repetitive, uncontrolled eye movements (nystagmus). A brain MRI was normal and ophthalmology was unable to find an underlying cause. The patient also has low muscle tone (hypotonia) and walks with his legs spaced far apart (broad-based gait). Developmentally, the patient has … read more
The patient was meeting his developmental milestones until age 2.5 when he started losing skills. He was previously able to walk, but now has trouble sitting and holding his head upright. He has lost his fine motor skills and keeps his hands in a fist position. His parents report that … read more
