A 10 years old with muscular dystrophy

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A 10 years old with muscular dystrophy

Author: Pediatric Oncall

Question
Case Report:- A 10 years old boy born of third degree consanguineous marriage presented with gradual onset weakness of lower limbs since 2 years which initially started with inability to get up and then with difficulty in climbing stairs. He had a generalized tonic convulsion at 5 years of age and then repeat convulsions every 15 to 30 days till 7 years of age. He is convulsion free since last 3 years. Similar complaints of weakness and convulsion is noted in elder sister now 12 years of age and had onset of disease at 5 years of age. She also has been seizure free since last 4 years but has delayed milestones. She is now bedridden and unable to eat on her own. Similar complaints of muscle weakness but without convulsion are noted in elder brother who is now 11 years of age and had onset of weakness at 8 years of age. Other family history, birth history is normal. On examination, Gower’s sign was positive and there was pseudohypertrophy of calf muscles with bilateral wasting of thigh muscles. Deep tendon reflexes in upper limb were normal and depressed in lower limbs. His power was 3/5 in lower limbs and normal in upper limbs. Other examination findings are normal. His investigations showed elevated SGOT [162 IU/L and elevated SGPT [141 IU/L] with raised CPK levels [7038 IU/L]. Muscle biopsy was not done as parents were not willing. MRI brain was normal. Echocardiography was normal.

What is the likely diagnosis?

Answer Discussion :

M

MEGHA O JAKHOTIA

0

seems most likely to be mitochondrial disease but needs further evaluation.

18 years ago

S

skywalky

0

DMD and BMD is too far fethched for this boy since he does have fits adn that the sister to seems to have some neurodevelopmental condiditon.most probably its some CNS condition involving the whote matter predominantly as there is some encephalopathy of some sort and regression.
needs more investigationsand metabolic screenign and for mithochondrial disease

18 years ago

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Answer 1

Mallory bodies are seen in 73 percent Indian childhood cirrhosis and in 25 percent Wilson`s disease. Thus they are not specific for ICC. On electron microscopy, a variety of peculiar degenerative changes at the level of organelles,
in particular, the mitochondria have been observed in Wilson`s disease. In addition, the presence of lipofuscin granules have been described in the hepatocytes as a characteristic. However, they can also occur in ICC. Thus there is no specific histological finding that can differentiate between the two.

In this child, there was history of drinking milk heated in copper utensils. Thus with age of cirrhosis and this history, it was most likely to be ICC.
feature.

A 10 years old with muscular dystrophy

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