Unknown pathology

[phunphysio]

Some ideas please:

6 year old boy with a 12 month history of progressive contractures of fingers, hands, wrists, forearms, ankles, knees. He is contracted now to the point of disability.
Neurologically in tact, sharp blunt distorted over anterior forearm, everything sharp. Light touch fine.
Reflexes normal
Fingers~30deg contracted at all distal joints
Thumb~20deg abduction/extension
Wrist~Neutral only, no extension
Supination~Neutral only, no extension
Elbow~normal
Shoulder~Normal
Ankles~90deg only
Knee angle with hip at 90~40deg
Knee ext~Full
Hip~NAD

Cannot sit on floor x legged or long sit

As an infant crawled in full wrist ext, photo of holding ball 12 months ago with hands fully extended.

What could cause this. I am asking for a referral to our connective tissue clinic but some ideas regarding pathology and progression would be great as I have been asked to address the contractures until specialist review which can take months.

Thanks a million.

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[phunphysio]

Ok so after researching for nearly 2 days I have come up with a possible diagnoses of Bethlem Myopathy~ has anyone seen this condition in the paediatric world? Am I expecting the finger contractures to be as bad as they are at such a young age? I have managed to convince the Paediatrician that the child wasnt just resisting them, that these were geniuine contractures and have a referral to the specialist on it's way. If Bethlem Myopathy I want CK and Vit D on bloods, anything else?

[estherderu]

dear phunphysio,

Sorry been away and didn´t see your question.
Raoul Engelbert is THE person I know of that knows a lot about the problems surrounding hypomobility.

I think this was his first article on the subject
Pediatric Generalized Joint Hypomobility and Musculoskeletal Complaints: A New Entity? Clinical, Biochemical, and Osseal Characteristics -- Engelbert et al. 113 (4): 714 -- Pediatrics

I would check him up, or had you already found him?


A neighbour family with father and sons all restricted in their hands, as you mention. It was not disabilitating them so they never had the disorder checked. As far as I know it wasn´t progressive.

Esther