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حالة سريرية

الوصف الكامل Background

A 2-year-old boy is brought to your clinic by his mother. She
complains that the child is lethargic and not active, like the other
kids on the block. He has difficulty walking, getting up and always
appears tired. She does mention that she may have a family
history of a disorder that may cause weakness. On examination,
the child is alert but quiet. He has hypertrophy of the muscles in
his calves and has depressed reflexes. When he gets up from the
floor he uses his hands to climb on his legs to assume an upright
position. The most likely diagnosis for this child is:
A.Myasthenia gravis
B.Dermatomyositis
C.Duchenne muscular dystrophy
D.Polio myelitis
E.Fragile x syndrome

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C.Duchenne muscular dystrophy

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طبعاً Duchenne muscular dystrophy
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الطفل عنده حثل دوشن العضلي ومفاتيخ التشخيص :
1-علامة غوروز:وهي الطريقة الوصفية التي ينهض فيها الطفل المصاب بحثل دوشن عن الأرض وهي ناجمة عن ضعف عضلات القسم السفلي من الظهر وعضلات الزنار الحوضي وتكون النتيجة أن الطفل يستخدم يديه للتسلق على ساقيه حتى يصل إلى وضعية الوقوف .

2-القصة العائلية

3- ضخامة الربلتين

This boy presents with proximal muscle weakness. The classic
sign is using his hands to walk up his legs to assume an upright
position (Gower’s sign). These children have pseudohypertrophy
of muscles, decreased reflexes, obesity, mental retardation and
cardiomyopathy. The diagnosis is by muscle biopsy and family
pedigree analysis. Treatment is supportive and most patients are
wheel chair bound by 12 years of age. Gene therapy trials are
underway.

Choice A: Myasthenia gravis does not usually occur in 3-year-old
children. Symptoms may fluctuate and maybe purely ocular or
generalized. Symptoms may include diplopia, ptosis, and muscle
fatigue with normal deep tendon reflexes. Ten to 15% will have a
thymoma. Diagnosis is with the edrophonium test to look for
muscle improvement. A CT scan is done to check for a thymoma.

Choice B: Dermatomyositis has a gradual onset in adult life and is
more common in females. Skin changes may precede or follow
muscle findings. There may be a rash on the eyelids, nose,
cheeks, trunk and extremities. There may be an associated
vasculitis in 25% of cases. Muscle biopsy is diagnostic.

Choice D Polio may be a subclinical or a mild abortive illness.
The individual may have a non-specific febrile illness. Some
individuals may have a flaccid paralysis, absent deep tendon
reflexes and normal sensation. You do not see hypertrophy of the
muscles. About 10-25% may recover for up to 6 months. The
illness is prevented by the polio vaccine. It is almost eradicated in
USA.
Choice E
: Fragile x syndrome is a major cause of mental
retardation in males. It is an X-linked recessive disorder. The
children have facial overgrowth and macroorchidism. The children
may be hyperactive or autistic. They do not have any muscular
deficits.
Educational objective:
In a child who has proximal muscle weakness and exhibits a
Gower’s sign, with depressed reflexes and pseudohypertrophy, a
muscular dystrophy must be suspected.

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