Case 1
Presentation: A five year old boy who was referred to aneurologist by his pediatrician because of an abnormal gait. He wasadopted from another country about a year ago, and his adoptingparents have noticed that he is clumsy when he runs where he fallsoften. He runs on his tiptoes, which has occurred since theystarted taking care of him. Otherwise, he has no other problems. Heis doing well in kindergarten despite his language difficulty. Histeacher notes that he has trouble getting up from a sittingposition at school. His parents deny that he has chronic fevers,leg pain, weight loss, seizures, skin rash, urinary or bowelincontinence, or frequent colds.
History: His past medical, developmental, family, andbirth histories are unknown. His immunizations are up-to-date andhis PPD this year has been negative.
Physical : His vital signs are normal. His height,weight and head circumference are at the 50th percentile. He isalert, active, shy, well-nourished and slim in no distress. Hisskin shows no neurocutaneous stigmata. His head is normocephalicand atraumatic. His pupils are equal, round, reactive to light. Nonystagmus is evident. His fundi are normal with sharp disk margins.His TMs are clear. His throat is normal with a uvula midline. Hislungs, heart, and abdomen are normal. His back shows no sacraldimples.
Neurological : A standard cranial nerve e*am reveals nodeficits. His strength is +4/5 in his deltoids, knee flexors andextensors; +5/5 in his biceps and triceps. His calves are visiblyenlarged with a firm, rubbery feeling. He gets up to a standingposition using a Gowers' maneuver. No dysdiadochokinesia. NegativeRomberg sign. Sensation to light touch is intact. His reflexes are+2/4 in his biceps, triceps, brachioradialis, patella and ankle.His plantar reflex is down going (negative Babinski sign). Noclonus is elicited. Normal anocutaneous and abdominal reflexes arepresent. His gait is best described as a wide based waddling. Whenrunning, he tends to run on his toes. He is unable tojump.
Diagnosis? and what medication or treatment?
