Ayesha Arif.
Camurati Engelmann Syndrome (Progressive Diaphyseal Dysphasia).
Pak Paed J Nov ;24(4):175-7.

Sajawal, a 3 year old male child presented on 28.04.1999 with complaints of gradually increasing difficulty and pain on walking of 2 years duration, excessive sweating of palms -and soles, thickening of terminal phalanges of fingers; toes and bones of the legs, and tow grade fever. He was presently refusing to walk, resented movements of the body as a whole because of pain and was confined to sitting and lying in bed. The anterior fontanelle was stated to be wide at birth and the child had suffered from: repeated episodes of diarrhoea and low grade fever persisting for prolonged periods. The mother stated that around the age of one year, his finger tips started becoming red and the size of his feet started increasing rapidly so that a new pair of shoes was required every 1-2 months. He walked normally at 1 year and started talking at 2 years. Two elder sisters of this boy, 8 and 6.5 years of age are normal, but a younger brother is similarly affected. Over the years he has been suspected of suffering from a collagen disorder, Farber`s disease, inborn errors of metabolism, polyarthropathy of various etiologies and treated with NSAIDs etc. with no significant effect on the progress of his ailment. Available medical records from February 1998 to January 1999 noted swellings of nails, feet, ankles, excessive sweating, complaints of blood in stools of six weeks duration, an ESR of 45, negative ANA and RA factor, normal ASO titre, calcium, phosphorus, uric acid, but raised alkaline phosphatase of 2014.

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