A 7-Year-Old Child With Chronic Droopy Eyes, Weakness in Head-Neck Control, and an Abnormal Gait

Our patient is a 7-year-old girl, who presented at the age of 3 years with features of droopy eyes, weakness in head-neck control, inability to hop and jump, and an abnormal gait. She was initially evaluated in an outside hospital (OSH) occupational safety and health and treatment with pyridostigmine with suspicion of myasthenia gravis. She was then referred to our center for further evaluation. At the time of her hospitalization, she was reported to have improvement in her ptosis and stamina with pyridostigmine, without much benefit in her gross motor activities, inability to run and jump, and difficulty in getting up from lying and sitting position. There was no history pain, fever, swallowing, or breathing difficulty. She was born full-term with an uneventful pregnancy, labor, and childbirth and had a previously normal development. There was no history suggestive of hypotonia or weakness in the neonatal period or thereafter. Medical history was not remarkable, and there was no evidence of neurologic, genetic, or rheumatologic disorders in the family. On examination, she was of average weight and built, with an unremarkable general, cardiac, pulmonary, and abdominal examination. Neurologic evaluation showed ptosis in neutral gaze, which disappeared with sustained upward gaze, no ophthalmoplegia, symmetric smile, and normal tongue movement without fasciculation. Axial and appendicular tone was low without any wasting or polyminimyoclonus. Motor strength test was notable for proximal muscle weakness more in the lower extremity compared with the upper, with power in range of 4-5 for most muscle groups. There was areflexia, intact sensation, and gait was of trendelenberg pattern with intact toe