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First Confirmed Metastatic Adamantinoma of the Spine: Case Report and Literature Review.

ABSTRACT: Study Design Case report and literature review. Objective To present the first case of metastatic adamantinoma of the spine with immunohistochemical confirmation and an updated literature review. Summary of Background Data Spinal metastatic disease could be difficult to diagnose because of the multiple differential diagnoses involved. Spinal surgeons must be aware of unusual primary extra-axial tumors that metastasize to the spine because in certain cases the primary surgery must determine the prognosis of this lesion. Methods We present a fully documented case of a middle-aged man with tibial adamantinoma who developed spine metastasis, confirmed by immunohistochemistry. A literature review was done. Results Based on clinical, imaging, and pathology findings, we provide evidence for the first proven metastatic adamantinoma of the spine, adding this condition to the long list of differential diagnoses of secondary spinal disease. Conclusions Adamantinoma is a very rare bone tumor representing ∼1% of primary bone tumors. Spinal metastatic adamantinoma with immunohistochemical confirmation has not been described previously. Due to the lack of specific image findings or serum markers and multiple differential diagnoses, biopsy with immunohistochemical confirmation is mandatory, because "en block resection" might prove to be curative treatment.

SUBMITTER: Morales Ciancio RA

PROVIDER: S-EPMC4516730 | biostudies-other | 2015 Aug

REPOSITORIES: biostudies-other

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Project description:BackgroundAcute pancreatitis has been described as potential complication of both abdominal and non-abdominal surgeries. The pathogenetic mechanism underlying acute pancreatitis in spine surgery may include intraoperative hemodynamic instability causing prolonged splanchnic hypoperfusion, as well as mechanical compression of the pancreas due to scoliosis correction, with a higher risk in cases of more extended fusions, especially in young adults with lower body mass index (BMI).Case presentationWe report here a case of postoperative acute pancreatitis with benign evolution in a young female patient after the first and second surgery of a two-stage correction of right thoracic idiopathic scoliosis.In December 2017, the patient underwent first-stage T4-L3 posterior arthrodesis with T7-T12 osteotomies and temporary magnetic bar. Intraoperative blood loss required massive transfusion. In the immediate postoperative period, the patient started reporting nausea/vomiting, abdominal pain at pressure, moderate meteorism, abdominal distension, hypoactive bowel sounds, and fever. Laboratory tests indicated a progressive increase in aspartate aminotransferase, alanine aminotransferase, serum amylase, lipase, phospho-creatine kinase, and reactive C-protein. A CT scan showed free abundant abdominal fluid in the hepatic, renal, pancreatic, and pelvic regions. After the diagnosis, a hypolipidic diet was initiated, and good hydration per os was maintained. After gastroenterologic consultation, somatostatin, rifaximin, and ursodehoxycholic acid were initiated and maintained for 8 days. In the following days, laboratory tests showed a slow but consistent decrease in liver and pancreatic enzymes until normalization. In January 2018, the patient underwent second-stage surgery with removal of magnetic bar, definitive posterior fusion, and instrumentation T4-L3. Laboratory tests showed a second, even more significant, increase in the amylase and lipase level and a moderate increase in the reactive C-protein. Therapy was maintained until complete normalization of amylase and lipase levels.ConclusionsEarly recognition of symptoms plays a key role in preventing severe morbidity after scoliosis surgery. When symptoms suggest abdominal complication, pancreatic and liver enzymes are to be evaluated for posing prompt diagnosis. Gastroenterologic consultation and eventual imaging are further steps in differential diagnosis and treatment of this rare complication.

Project description:BackgroundCerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive inherited metabolic disorder. It results from a deficiency of sterol 27-hydroxylase (CYP27A1), which is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol and modulates cholesterol homeostasis. Patients with CYP27A1 deficiency show symptoms related to excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the brain, eyes, tendons, and vessels, resulting in juvenile cataracts, tendon xanthoma, chronic diarrhea, cognitive impairment, ataxia, spastic paraplegia, and peripheral neuropathy. CTX is underdiagnosed as knowledge of the disorder is mainly based on case reports.Case summaryA Chinese family with CTX consisting of one patient and four heterozygous carriers was studied. The patient is a 47-year-old male, who mainly had psychiatric signs but without some cardinal features of CTX such as cataracts, cerebellar ataxia, pyramidal signs and chronic diarrhea. There was a significant increase in the concentration of free fatty acid compared to normal range. Doppler ultrasound of the urinary system showed multiple left kidney stones, a right kidney cyst, and a hypoechoic area in the bladder, which could move with body position. Sagittal and axial magnetic resonance imaging (MRI) of the right ankle joint showed apparent enlargement of the right Achilles tendon and upper medial malleolus flexor tendon, abnormal thickening of the plantar fat, and a small amount of exudation around the fascia in front of the Achilles tendon. Cerebral MRI suggested white matter (WM) demyelination and slight cerebral atrophy. The diagnosis was confirmed by targeted sequencing, which identified compound heterozygous mutations in exon 2 and intron 7 of the CYP27A1 gene (c.435G>T, c.1263+1G>A). Treatment for 3 wk with a combination of lipid-lowering and antipsychotic therapy improved his psychiatric symptoms and normalized the levels of serum free fatty acid. Sediments in the bladder disappeared after therapy.ConclusionCYP27A1 genetic analysis should be the definitive method for CTX diagnosis. This case suggests that urinary system diseases may be neglected in CTX patients. The clinical, biological, radiological, and genetic characteristics of CTX are summarized to promote early diagnosis and treatment of this disease.

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First Confirmed Metastatic Adamantinoma of the Spine: Case Report and Literature Review.

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