Index of Suspicion * Case 1: Foot Deformities, Asymmetric Calf Muscles, and Frequent Falls in an 8-year-old Boy * Case 2: Seizures in a 5-month-old Boy Whose Mother Recently Emigrated From Honduras * Case 3: A Gradually Increasing Perianal Mass in a Teenage Girl

Abstract

An 8-year-old boy presents with progressive bilateral foot deformities and asymmetric calf muscles of 1 year's duration. He states that he tires easily and falls frequently. He denies any pain, paresthesias, and bowel or bladder complaints. He attained his motor and social developmental milestones on time, although he had speech delay. During his speech evaluation, he was found to have bilateral hearing loss. His maternal grandfather developed gait difficulties early in life and became wheelchair-bound. In addition, he had foot deformities and thin legs. The boy's parents are asymptomatic. The boy's heart rate is 100 beats/min, respiratory rate is 16 breaths/min, blood pressure is 85/64 mm Hg, and head circumference is 52 cm. He is nondysmorphic. Neurologic examination reveals a normal mental status and normal cranial nerves II through XII, except for nerve VIII. He has normal strength in his upper extremities, but there is weakness of his ankle dorsiflexors bilaterally. This weakness is demonstrated again in gait testing because he is unable to walk on his heels, although he can walk on his tiptoes. The deep tendon reflexes are absent in his lower extremities but normal in his upper extremities. His touch, temperature, and pain sensations are normal, but vibration and position senses are absent in both feet. He has obvious atrophy of his left calf muscles compared with the right as well as hammer toes and high arches. The rest of the examination findings are normal. Radiographs of his feet show pes cavus deformity bilaterally. Additional evaluation reveals the diagnosis. A 5-month-old boy presents to the ED 3 hours after a shaking episode that lasted approximately 3 minutes and consisted of shaking of all extremities, generalized pallor, and perioral cyanosis. He does not have signs of upper respiratory tract infection, fever, or diarrhea; has no history of trauma; …