A three-year-old and a half-year-old male with severe neurological damage secondary to a perinatal ischemic stroke.
She comes to consultation with her mother, who tells us an unusual crying a few weeks ago and the suspicion that the child has hand pain.
He also comments that the child has been treated with oral steroids for a few weeks, since during the follow-up of his neurological damage, when he consulted for musculoskeletal system symptoms he suffered from idiopathic chronic arthritis with normal radiographs of hands.
He is the only child of non-consanguineous parents.
The father tends to have a bone problem in his wrists since childhood; he remembers having suffered wrist pains when he was a child and refers to the fact that he does not have the bones of his normal wrists and that he does not keeps his profession.
The physical examination of the child is conditioned by its neurological damage (emitting cries, without language of another type and listening and attending when speaking, smiling with the caresses); it is not capable of ambulation without speech.
Somatometry includes a skull perimeter of 46 cm (< P3), a length of 104 cm (P25-50) and a weight of 16.5 kg (P50).
Blood pressure values were normal (111/66 mmHg).
No characteristic features are observed.
Attention is paid to the child's repeated attempt to bite his right wrist.
There are no inflammatory signs and it is expressed with gemides upon repeated mobilization of this right wrist.
No other manifestations were observed.
The father is 180 cm tall, but his arm span is reduced to 164 cm. His hand is 18.7 cm long (corresponding to 8.3 cm for height) with a third finger (normal).
The paternal X-ray showed bilateral absence of congenital malformations.
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X-rays of the child showed lesions consistent with osteolysis and unilateral tarsal scaling lesions.
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We requested consultation of the genetics service where we studied and confirmed the diagnosis of autosomal dominant multicentric osteolysis without nephropathy.
