An 18-year-old male was treated in various departments due to multiple abnormalities connected with OHS. He was born in the 39th week of pregnancy by caesarian section due to no progress in delivery with Apgar scores of 9 and 10 at 1 and 5 min. Molecular genetic analysis in the ATP7A gene was performed, and a novel base substitution c.2927 + 5 was detected. T to G intron 13 of the ATP7A gene in patient's DNA and is the disease-causing defect in this patient, confirming the diagnosis of OHS. At age 3, a bladder diverticula limited his outflow of urine and was corrected surgically. The patient also underwent Meckel’s diverticulum resection and bilateral inguinal hernia repair. At age 4, his serum ceruloplasmin and copper were found to be 11 mg/dl 115 ug/dl, respectively. He subsequently underwent intramuscular copper histidine treatment but, due to pain, adhesions, and lack of apparent effects seen by the patient’s family, the therapy was discontinued after 3 months.
Physically, the patient presented with abnormal proportions; short limbs relative to his body. An X-ray of both lower limbs in a standing position showed a mechanical lateral distal-femoral angle of 88.1° (normal range: 85°–90°) on both sides and a mechanical medial proximal tibial angle of 97.2° on the right 96.3° on the left (normal range: 85°–90°). Fragmented, deformed bones of the lower leg on both sides were visible. X-rays of the feet showed an increased angle of the longitudinal arch of the foot and reduced calcaneal inclination angle on both sides. Flat-valgus feet were also noted. Bilateral subluxation in the humero-radial joints caused visible deformation of the elbows. Deformity of both elbow joints with a prominent end of the proximal radial bone was observed. The densitometry of the spine and femur revealed Z-score lower than − 2, which indicated osteoporosis. He had a pigeon chest which impaired the expansion of both lungs and also presented with thoracolumbar junction kyphosis without possible active correction. Left-sided thoracolumbar scoliosis was diagnosed with a 24° Cobb angle.
The patient received care at a rehabilitation clinic since he was a 1-year-old. His premature fatigue, joint pain, and reduced mobility were explained by the patient’s hyperlaxity and hypermobility. The patient was diagnosed with a type II atrial septal defect (ASD), and delayed weight gain was observed in his childhood. Diminished exercise tolerance was also observed along with low blood pressure causing dizziness and near-syncope when standing up. These symptoms may indicate chronic autonomic failure due to partial deficiency of dopamine-beta-hydroxylase; another copper-dependent enzyme.
To improve the patient’s quality of life, surgical intervention was required for the above-mentioned abnormalities. On the right lower limb, percutaneous epiphysiodesis of the medial distal growing cartilage of the tibia was performed with an 8-plate. A fibula osteotomy and corrective tibia osteotomy were performed on the left. Surgeons performed an ankle arthrodesis and extra-articular tarsal arthrodesis according to the Grice procedure. Surgical correction of the metatarsophalangeal joint was also performed by stabilizing it with a locking plate and 2 Blount staples (Fig. 1). One and a half months later, another operation was performed on the left upper extremity. The patient was placed in a supine position, and the Esmarch band was put on. The skin was incised on the posterolateral surface of the left elbow along the proximal end of the radius, and the subperiosteal fragment of the radial bone was exposed. The course of the radial nerve that surrounds the head of the radial bone was preserved. The proximal end of the radius was dissected subperiosteally and obliquely resected. The junction of the radius with the ulna was left alone. The cut bone was secured with a hemostatic sponge, and the periosteum was sutured above the stump of the radius. Then, the Esmarch band was removed, and hemostasis was checked. Temporary paralysis of the radial nerve was observed after the operation. The paralysis was relieved after few days of rehabilitation. The patient was positively assessed with the applied treatment. The current condition shows minimal impediment to the patient’s physical or mental function (Fig. 2). The deformation of the chest wall was corrected using the classical method with 8-plate sternum stabilisation. Laryngeal treatment included bilateral coagulation of the nasal conchae and adenotomy.