Osteopetrosis is a genetic illness defined by defective osteoclasts that are incapable of absorbing adequate amounts of bone. This exceedingly rare disorder has been linked to multiple genetic mutations that have a direct impact on osteoclast function. Osteopetrosis causes bones to become brittle with large amounts of cortical bone formation making patients susceptible to pathologic fractures, pancytopenia, and cranial neuropathies among other sequelae. Known as the "marble bone disease," this condition can range from as severe as causing death in newborn infants to as mild as an incidental finding of increased cortical thickening in a trauma patient. This case demonstrates an incidental finding of osteopetrosis in a trauma patient who suffered from significant injuries as a result of a high-velocity trauma. The patient was the pedestrian in a car vs pedestrian accident and suffered from a central cord syndrome in his cervical spine, a right humerus fracture, a left subtrochanteric femur fracture, a right tibia fracture, and a right fibula fracture. This case report illustrates the complexity of dealing with a polytrauma patient with osteopetrosis and reviews the literature on the approach to fracture fixation in osteopetrotic individuals. This paper will also discuss current medication recommendations and the current standard of care for optimizing patients with osteopetrosis as well as genetic counseling.
Introduction: Pituitary apoplexy describes rapid enlargement of the pituitary gland, most often caused by hemorrhagic infarction of an adenoma. Occurs in about 8% of patients with pituitary macroadenomas. Apoplexy commonly presents with severe headache, nausea, visual field defect, hemodynamic instability, or hormone abnormalities. When hormone anomalies occur, there is debate whether surgical or conservative management is preferred. Case Presentation: 26-year-old female no significant medical history presented to the emergency department with 2 years of secondary amenorrhea, galactorrhea, and hemianopsia. She began to have severe headaches a week prior to presentation. Laboratory data showed prolactin greater than 1000ng/mL, FSH 0.7mIU/mL, LH 0.1mIU/mL, and estradiol 15pg/mL. ACTH, IGF-1, TSH, and free T4 were within normal limits. Brain MRI showed a markedly enlarged pituitary gland with mass effect upon the optic chiasm and hemorrhage consistent with pituitary apoplexy. Trans-nasal, trans-sphenoidal pituitary tumor debulking was performed emergently with subsequent pathology revealing pituitary adenoma suggestive of prolactinoma. Hospital course was significant for post-surgical hypopituitarism and diabetes insipidus treated with cabergoline and hormone replacement, as well as aseptic meningitis treated with antibiotics, steroids, and a lumbar drain. Discussion: Pituitary apoplexy is a rare complication of a pituitary adenoma that can be life threatening. Diagnosis is made with both clinical signs and radiologic evidence of pituitary enlargement with MRI being the most effective imaging tool. After the patient has been stabilized, the next step towards management is unclear, as surgery has its risks and benefits. Generally, studies have shown that surgical decompression is significantly beneficial for patients presenting with neurological symptoms including visual disturbances and altered mental status as seen in this case. However, the literature is mixed on the effect of debulking surgery on hypopituitarism and hormone abnormalities. Older studies demonstrate a benefit from a surgical approach where more recent ones have suggested no significant difference in return of pituitary function when compared to conservative medical management focused on hormone replacement. In this case, the patient presented with visual disturbances and endocrine abnormalities and underwent surgery. Subsequently, she developed post-surgical complications including infection and panhypopituitarism. This case is unique due to an adverse event directly related to the treatment plan chosen. The literature shows that panhypopituitarism can persist after debulking, but it does not look into adverse events and negative outcomes that can occur due to surgery including worsening of the endocrine abnormalities and infection risk. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentat...
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