Pycnodysostosis with Epilepsy in a Malawian patient: A case report

Abstract

Background: Pycnodysostosis is a very rare genetic disease resulting from deletion the short arm of one of the group – G chromosomes leading to deficiency of Cathepsin –K, a cysteine protease needed for proper functioning of Osteoclasts to resorb and remodel bone. Unlike many skeletal dysplasias, it is lysosomal enzyme defect and it is inherited in a typical autosomal recessive mode. Patients present with repeated fractures due to brittle bone as well as multiple other health problems. World wide extremely few cases have been reported. This presentation therefore is aimed at documenting an occurrence of a very rare disease from Blantyre, Malawi. We hope that this report creates awareness among clinicians in dealing with some 200 various types of skeletal dysplasias, and the diagnosis should be considered when evaluating patients with strikingly short stature. This is a typical case description of the syndrome, including clinical approach and radiological features of a patient seen at College of Medicine, Queen Elisabeth Central Hospital (QECH), in January 2009.

Case report: A 38 years old Malawian male with dark African complexion presented to QECH with a left side combined supracondylar and olecranon fracture which he had sustained following a simple twisting injury. It was the 7^th fracture in our patient’s life. He is a known epileptic on medication and had poor performance at school. Open reduction and internal fixation (ORIF) of the fracture was successfully done. The many clinical, hematological and radiological findings seen in our patient were consistent with a diagnosis of Pycnodysostosis.

Conclusion: This may be the first case report of Pycnodysostosis with seizure from Africa. Increased clinical awareness and a systematic approach (algorism) to a very rare disease can lead to a reasonable level of accuracy in making diagnosis in set-ups lacking genetic or molecular methods of syndrome investigation.