A 16-year-old girl came to our outpatient clinic complaining low back pain and clinically evident thoracolumbar joint deformity.
Her medical history was nonetheless complex: she was born in a foreign country at 37 weeks with oligohydramnios, foetal hypoplasia, and dysmorphia, Neonatal echocardiogram showed a patent foramen ovale (PFO); on abdominal ultrasonography, the kidneys were of normal size with hydrocalicosis. The patient underwent genetic investigation and was found to have a 46 XX karyotype, thus initially excluding genetical abnormalities. At 1 year and 6 months, the patient began to walk with a walker; parents noticed initial clinical evidence of back irregularity, so an orthopaedic examination was performed, and a thoracolumbar junction hyperkyphosis secondary to L1 hemivertebrae with marked ligamentous laxity, Nonetheless, no further workup was undertaken, and the patient remained untreated.
At age 3 years, she underwent a clinical check-up showing mental retardation, clinodactyly of 1 toe, syndactyly of 2nd and 3rd toes bilaterally. At age 13, the patient presented with primary amenorrhea, and hormonal tests were performed revealing hypothalamic-pituitary-ovarian axis dysfunction.
At the age of 16 years, she was brought to our attention for back pain and clinically evident thoracolumbar joint deformity.
The physical examination was unremarkable, without signs of neurological deterioration.
Full spine X-rays showed severe kyphosis of the thoracolumbar junction (T11-L2 Cobb angle 95.2 ) with L1 hemivertebra and T12 morphological alteration; no coronal deformity was observed (Fig. 1).
Further workup consisted in a full spine MRI and CT scan of the lumbosacral and thoracic spine; the CT highlighted a partial dimorphism of T12 and an anterior wedged L1 (Fig. 2).
Magnetic resonance imaging of the abdomen showed aplasia of the uterus (Fig. 3) and upper two-thirds of the vagina, the presence of mullerian remnants, hypoplastic ovaries, hypoplastic right kidney with calyx changes. Following all these investigations, the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) was made.
In order to treat the severe sagittal deformity, a surgical correction with L1 corpectomy and circumferential fusion was proposed.
However, due to the outbreak of Sars-Cov-2 pandemic, the surgery was delayed: indeed, during that time, the Regional Healthcare system was reorganized to face the emergency. Under the new system, our specialistic Orthopaedic Institute was tasked to accept and treat only orthopaedics emergencies (i.e. fractures) in patients who did not need post-operative intensive care, while surgeries with required postoperative ICU were shifted to other Institutions. Due to this unprecedented situation, the patient was lost to follow-up during preoperative investigations.
The patient returned to our attention following sudden onset of weakness in her lower extremities. Clinical examination revealed neurological involvement of the lower extremities with paraparesis (Asia Score C). An MRI was performed, which demonstrated thoracic myelopathy caused by a T11-T12 disc herniation (Fig. 4); this occurrence is typically associated to wedge deformity of thoracolumbar vertebra..
The abrupt neurological deterioration led us to consider a different surgical strategy: thus, a two-stage intervention was planned, with an initial T11-T12 discectomy performed through a video-assisted left sided thoracotomy, followed by a scheduled L1 PVCR with TL fusion.
During the first surgical stage a good cord decompression was achieved, and A T12-L1 discectomy was also performed to facilitate the next step. After the first step, halo-traction was positioned to gradually correct the severe deformity. The patient remained in Halo-Gravity traction for the first postoperative period, during which no complication of traction was recorded and good neurological recovery was achieved in approximately 1 week.
After 3 weeks, when the patient's hemodynamic and clinical conditions had stabilized, we proceeded with the second step: posterior vertebral column resection (PVCR) of L1 with T12-L2 anterior fusion, and T8-L4 posterior fusion; Correction of the deformity was achieved alternating in situ bending of the rods and compression until we obtained a complete correction of the deformity (Fig. 5).
In five days, the patient was able to walk with a brace; postoperative X-Rays (Fig. 6) showed optimal restoration of sagittal profile. The patient was discharged in the 7th postoperative days, fully able to walk.
Correction of the hyperkyphosis was optimal: segmental (T11-L2) kyphosis corrected from 95.2  in preop to a post-operative value of 17.3 , with 81.8% correction (Fig. 7).
At one-year clinical and radiological follow-up, the patient has had a full recovery, can go to school and swim, NRS is 0, Asia score is E.