Question

Case 1

Presentation: A five year old boy who was referred to a neurologist by his pediatrician because of an abnormal gait. He was adopted from another country about a year ago, and his adopting parents have noticed that he is clumsy when he runs where he falls often. He runs on his tiptoes, which has occurred since they started taking care of him. Otherwise, he has no other problems. He is doing well in kindergarten despite his language difficulty. His teacher notes that he has trouble getting up from a sitting position at school. His parents deny that he has chronic fevers, leg pain, weight loss, seizures, skin rash, urinary or bowel incontinence, or frequent colds.

History: His past medical, developmental, family, and birth histories are unknown. His immunizations are up-to-date and his PPD this year has been negative.

Physical : His vital signs are normal. His height, weight and head circumference are at the 50th percentile. He is alert, active, shy, well-nourished and slim in no distress. His skin shows no neurocutaneous stigmata. His head is normocephalic and atraumatic. His pupils are equal, round, reactive to light. No nystagmus is evident. His fundi are normal with sharp disk margins. His TMs are clear. His throat is normal with a uvula midline. His lungs, heart, and abdomen are normal. His back shows no sacral dimples.

Neurological : A standard cranial nerve e*am reveals no deficits. His strength is +4/5 in his deltoids, knee flexors and extensors; +5/5 in his biceps and triceps. His calves are visibly enlarged with a firm, rubbery feeling. He gets up to a standing position using a Gowers' maneuver. No dysdiadochokinesia. Negative Romberg 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). No clonus is elicited. Normal anocutaneous and abdominal reflexes are present. His gait is best described as a wide based waddling. When running, he tends to run on his toes. He is unable to jump.

Diagnosis? and what medication or treatment?

Answer 1

The important findings to be noted inthe case are :

- 5 year old child with abnormal gait.
- walking on toes, wide based waddling gait

- falls often

- positive gowers sign

- decreased refexes, egative babinski sign

- enlarged calf muscles.
The above findings indicate towards presence of Duchenne Muscular dystrophy (DMD) in the child. Duchenne muscular dystrophy is a genetic condition affecting mainly boys in the age group of 3-7. DMD is caused mutation in dystrophin gene of the muscle that causes degeneration of the muscles.
Treatment of DMD: there is no cure for DMD.
The treatment is symptomatic and aims to improve quality of life and functional independence in the patient.
Corticosteroids are given to improve muscle strength. Beta 2 agonists have also shown improvement in muscle strength.
Physical therapy aims at improving muscle strength and maintain flexibility through active exercises and stretching.
Mobility aids such as walkers or splints to prevent contractures are prescribed to maintain functional independence.
Ventilatory support is required as disease progresses.