CONGENITAL OSTEOCHONDRODYSPLASIA – A CASE REPORT

Authors:

Ismet H. Bajraktari, Avni Kryeziu, Sylejman Rexhepi, Xhevdet Krasniqi

Summary

Congenital osteochondrodysplasia is a rare inborn disorder of the development and growth of bone and cartilage. Its incidence in children is 2–3/10,000. We present the case of a female patient, born in 1952 from an unplanned pregnancy as the fourth child in the family. At her birth the mother was 42 and the father 53 years old. At examination her body height was 152 cm and body weight 87 kg.
She was hospitalized at our clinic because of pain in the spinal and peripheral joints from which she had been suffering since young age. Her father and uncle had similar problems. On physical examination the patient was obese with a large scaphoid calvaria, a very high forehead, a nose with wide base, short trunk and extremities, especially the arms with semi-contractures of the elbow joints and fingers of equal length. There was a contracture of the right hip, the feet were in disproportion with the rest of the body, while Lasegue’s test was positive on both sides at 30°. The patient’s karyotype was 46 xx. Radiography of the hip joints showed varus deformations and pronounced sclerosis of the femoral head. The knee radiographs were characterized by congenital deformities, and there were clinical and radiographic signs of osteoarthritis. Radiographs of the lumbosacral spine and pelvis showed osteoporosis, hyperlordosis, and a compression fracture of the L5 vertebral body. Total T-score of the hip on DEXA scan was –3.7.
Based on data from the history, physical examination, as well as clinical and laboratory fi ndings, we established the diagnosis of congenital osteochondrodysplasia, a condition which should be considered and diagnosed as soon as possible. Treatment of the disease is multidisciplinary and mainly symptomatic.

Sažetak
Kongenitalna osteohondrodisplazija (OCHD C) je rijedak urođeni poremećaj razvoja i rasta kostiju i hrskavice. Incidencija bolesti je 2–3 djece na 10.000 osoba. Predstavljamo bolesnicu, rođenu 1952. godine kao četvrto dijete nakon nekontrolirane trudnoće. Majka je bila u dobi od 42 godine a otac je imao 53 godine. Bolesnica je u vrijeme pregleda bila tjelesne visine 152 cm i tjelesne težine 87 kg. Bolesnica je hospitalizirana na klinici zbog bolova u kralježnici i zglobovima, od kojih je patila od mlade dobi. Iste simptome imali su bolesničin otac i ujak. Na pregledu bolesnica je bila pretila, s velikom skafoidnom kalvarijom, vrlo visokim čelom, širokom bazom nosa, s kratkim trupom i ekstremitetima, osobito kratkim rukama s polufl ektiranim zglobovima lakta i prstima ruke, uz jednaku dužinu. Nađena je i kontraktura desnog kuka, stopala su bila velika u odnosu na ostatak tijela, dok je Lasegueov znak bio obostrano pozitivan kod 30 stupnjeva. Imala je osteoartritis koljena, velika stopala (br. obuće 44) koja su bila nerazmjerna s tijelom. Kariotip bolesnice je bio 46xx, Na radiografskim nalazima proksimalni dijelovi femura su bili deformirani u varusu, s izraženom sklerozom glave femura. Radiografi ja koljena je karakterizirana kongenitalnim deformacijama, dok su nađeni radiografski i klinički znakovi osteoartritisa. Na radiografi ji lumbosakralne kralješnice i zdjelice vidi se osteoporoza, hiperlordoza i kompresivna fraktura trupa kralješka L5. T-skor na kuku ukupno mjereno DXA-om je bio –3,7. Na temelju anamneze, fi zikalnog pregleda, kliničkih i laboratorijskih nalaza zaključeno je bolesnica boluje od kongenitalne osteohondrodisplazije. To je bolest o kojoj treba misliti i nastojati postaviti dijagnozu što ranije. Liječenje bolesti je multidisciplinarno i za sad simptomatsko.

Vol.: Reumatizam 2017;64(1):30–34

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