This 13 years old boy came to our hospital from a rural background with the c/o jaundice and pain
abdomen. On the post admission day morning round when I saw him for the first time, it was like an ordinary case of acute viral hepatitis which is very common in the tropics. But his father appeared too much worried and depressed about the health issue of his son. He expressed his frustration by telling "Sir, we are extremely poor! moreover, our son is physically challenged!" I was like surprised because at the first instance the boy appeared quite normal, lying in the bed like other patients. But when I heard the phrase "Physically challenged", I kept staring at the face of the boy. At first, my heart was denying the truth that I had just heard but inside my mind I was sure that this case is not an "ordinary" anymore. So, I went deeper further questioning the father about his son.
According to him, his son was absolutely normal at birth and had achieved all the developmental milestone normally as he grown up. But at around the age of 7 years gradually his child became weaker than his peers as evidenced by the inability to walk for a longer time, difficulty in getting up from sitting or supine posture and the loss of ability to walk upstairs. Eventually, the weakness has progressed to the stage where his son has to depend on wheelchair but not on his own leg for moving even for a short distance. He had initially visited to some local practitioners with a hope for the cure of his son's disease but it was unsatisfactory. Being a poor and uneducated person he took it as a curse over their family and left his all hope to explore further options for the better treatment of his child.
At that time, I was imagining how painful the situation must have been through which he went on experiencing all the stages of grief starting from the "Denial" to end with the "Acceptance"! He took out a torn piece of paper wrapped in plastic from his wallet and hold it in front of me telling "Sir, see it's the disability certificate for my son!".... I acted like reading it very carefully but inside my mind I was busy in analyzing the deeper emotions hidden in his last sentence. May be he tries consoles himself with that "Torn piece of paper" which is not just a paper but a proof of the least he could do for his son or somehow deep inside he feels the word "Disability"mentioned in that certificate point towards his own failure to fight for his child.
Witnessing all the emotional story along with the medical history, I started examining the patient. The boy was fully conscious and oriented with an average built. Pallor,cyanosis, clubing, oedema were absent but icterus was present. He was a bit tachypnic and tachycardic with normal blood pressure and temperature. On examination of the nervous system, his speech and higher mental functions were within the normal limits, cranium and spine looked fine and all the cranial nerves were functioning properly. In the motor system examination, his both legs were lying helplessly in the bed rotated externally at the hip joint, flexed at the knee joint (Frog-like posture) and plantiflexed at the ankle joint. There was no obvious thinning of any limbs or muscle instead, there was strikingly huge hypertrophied like calf muscles in his both legs. His muscle tone was grossly diminished (more on the lower limbs) and the power was of grade-1 in his both legs and grade-4 in his upper limbs. His huge calf muscles were very firm and non-elastic on palpation like "Pseudohypertrophy" though it's difficult to say for sure without the help of ultrasound (heterogenous muscle echointensities due to intermixed fibrous tissues in case of pseudohypertrophy). Heel contracture was there bilaterally. No abnormal involuntary movements were found clinically. His tendon jerks were grossly diminished in all 4 limbs and plantar response were absent bilaterally. His sensory system and bladder-bowel functions were absolutely normal. Other system examinations were almost normal except for the few crackles heard in both of his lung base.
No investigation reports were available. We did routine blood test which came normal except for the mild jaundice (bilirubin-3.5 mg/dl) and raised ALT (136 iu/l) & AST (148 iu/l). His serum CPK was normal (35 u/l). EMG-NCV, MRI-spine and muscle biopsy was planned but on the next day he suddenly developed progressively increasing shortness of breath (?respiratory muscles weakness) leading to CO2 retention for which he had to be shifted to the ICU for starting BiPAP ventilation. He had not shown any signs of improvement even after 24 hours, so his father became very anxious and finally decided to take his child out from our hospital to a higher facility for better management. We supported his decision and referred the boy to a neurological institute with a wish for his speedy recovery and thus our story ends here without having any formal diagnosis.
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Do you have any clues? if yes, then please mention it on the comment section.
To me the possible differentials would be-
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