Weakness in a Child

 Chief Complaint: A 5 year-old boy presents with his mother for weakness and impaired gait.

DOMAIN A: DATA ACQUISITION

+ What are the key components of this patient’s history and physical examination, and why?

Relevant History:

  • Is there pain, numbness, or tingling?
  • How long has this occurred for?
  • How did this begin?
  • Has there been injury or trauma?
  • Please describe the weakness and impaired gait in more detail.
  • Has the child fallen?
  • Any rashes, bowel or bladder deficits, vision or hearing changes, shortness of breath, fever/chills, cognitive changes?
  • What is the child’s functional history, including usage of any assistive devices?
  • Has he been meeting his motor, cognitive, social, language milestones?
  • Prenatal history, method of delivery, hospital course as a newborn?
  • Past medical/surgical history?
  • Family history?
  • Any siblings? How is their health if so?
  • School/kindergarten performance?

Relevant Physical Examination:

  • Vital signs
  • Observation of play, interaction with mother
  • Inspection (atrophy, skin, symmetry)
  • Cranial nerve examination
  • Gait analysis
  • Manual muscle testing, sensory testing, reflex testing if able
  • Rise from the floor
  • Language/speech evaluation

+ Challenge Question

  • What are you looking for in analyzing the patient's gait?

+ Challenge Answer

  • In this patient, a variety of causes could be contributing to weakness. The type of gait he manifests may provide clues towards his diagnosis, if any.
 

DOMAIN B: PROBLEM SOLVING

The patient has had an uneventful history until approximately 1 year ago when his mother noticed him gradually and progressively start to lose his balance when walking. She noticed he often has difficulty rising from the floor without help. He does not complain of any numbness or bowel or bladder deficits. On examination, his calf muscles appear large in proportion to the rest of his body. Using his arms, he pushes on his legs and “walks” up them to rise to a standing position.

+ Challenge Question

  • What is the name of the observation that this patient uses his arms to walk up his legs and rise to a standing position?

+ Challenge Answer

  • This is known as the Gower sign. It indicates proximal lower extremity weakness.

+ What is your differential diagnosis for this patient?

  • Duchenne muscular dystrophy, limb-girdle muscular dystrophy, spinal muscular atrophy (SMA) type 2/3, Becker muscular dystrophy, cerebral palsy, Emery-Dreifuss muscular dystrophy, Friedreich ataxia, spina bifida, intracranial neoplasm, spinal cord neoplasm, cervical myelopathy, lumbosacral radiculopathy, lumbosacral plexopathy, facioscapulohumeral (FSH) dystrophy. His gait is hyperlordotic, Trendelenburg, with toe-walking noted.
 

DOMAIN C: PATIENT MANAGEMENT

+ How would you manage this patient?

  • I would start with a discussion on my concerns regarding the patient’s abnormal gait, calf hypertrophy/pseudohypertrophy, and Gower sign. I would recommend genetic testing at this point with suspicion for Duchenne Muscular Dystrophy (DMD). I would also check a serum Creatinine Kinase (CK).
 

+ Genetic testing confirms an xp21 mutation leading to extremely minimal dystrophin protein produced. CK is markedly elevated. How would you continue to manage this patient?

  • I would offer counseling and support group services for the patient and mother/family, as this diagnosis can be devastating. I would recommend physical and occupational therapy, specifically noting the restriction of submaximal exercise. I would recommend speech/language therapy evaluation, as cognitive deficits often accompany this diagnosis. I would advise a referral to a neuromuscular specialist in neurology. I would place a referral to a cardiologist for a baseline EKG and echocardiogram, as cardiomyopathy is common. I would refer the patient to a pulmonologist for respiratory function surveillance. I would potentially prescribe lower extremity bracing in the form of ankle-foot orthoses (AFOs) or knee-ankle-foot orthoses (KAFOs) to improve balance and gait independence. I would recommend routine followup visits to monitor the child’s function over time. In time, a manual wheelchair, and ultimately a power wheelchair will likely be needed. Ultimately I would inform the patient’s pediatrician of my findings and my plan. All physicians involved in this patient’s care would receive a copy of my clinical note from today’s office visit. I would ask the mother and patient if there are any other questions today, and I would be more than happy to discuss in detail.
 

DOMAIN D: SYSTEMS-BASED PRACTICE

The patient (with his mother) returns to your office 6 months later. He has been working with his neurologist, pulmonologist, and therapists and has an improved gait and functional independence with AFOs. He has not seen the cardiologist. You note otherwise no new problems and plan to followup with the patient in another 6 months, or sooner as needed.

+ What is your next step?

  • I would ask if he has been contacted by the cardiologist’s office yet. If so, I would inquire about his appointment - potentially it has been pushed off for other reasons that the mother can explain. If not, I would inform the patient and mother that I will place another referral, and I will personally call the cardiologist’s office to ensure that this appointment will be made and confirm that the referral has been received. I would apologize for the lack of appointment. I would provide the mother with the cardiologist’s office phone number. I would ask if there are any questions remaining that I can help answer today, and I would ensure that all questions are answered.
 

DOMAIN E: INTERPERSONAL AND COMMUNICATION SKILLS

Before you can end the encounter, the patient states, “My friend’s brother said I’m gonna die.”

+ What is your response? Pretend I am the patient. This is the role-playing portion of this case.

  • You are dealing with a problem that is very hard, and that most other children do not have to worry about. I am so sorry for this, but I will tell you that I will be by your side every step of the way, and that you can always ask your mother to call me if you ever have any questions or think there is something I can help you with. Also, please keep working with your therapists, and this will help make sure you can keep doing the things you like to do. Do you have any questions for me today?

  • Note: if you have not already discussed the likelihood of early death by teenage years or the patient’s twenties, now is not the time to broach that subject, especially as the child is only 5 years old. It is best to discuss this first with the mother with the patient not present, to learn first what she has told her son about his prognosis. Maintaining a harmonious relationship and trust with the patient’s family should remain a priority.