Combined-modality therapy for pulmonary alveolar proteinosis in a remote setting: a case report.

BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by accumulation of phospholipoproteinaceous material in the alveoli. The presentation is nonspecific but typically includes dyspnea; the spectrum of disease includes rapidly progressive hypoxic respiratory failure. Whole lung lavage (WLL) is the treatment of choice in symptomatic PAP, but transient worsening of oxygenation sometimes requires salvage modalities of support such as extracorporeal membrane oxygenation (ECMO). Granulocyte macrophage colony-stimulating factor (GM-CSF) plays a role in the pathophysiology of PAP. We highlight a case of severe PAP treated with exogenous GM-CSF and sequential lobar lavage due to the unavailability of salvage methods of oxygenation. CASE PRESENTATION: A 36 year old female was admitted with fevers, chills, and progressive dyspnea. On presentation she was tachypneic, tachycardic, and hypoxemic; labs revealed leukocytosis and lactic acidosis. Chest CT identified diffuse ground glass opacities in a 'crazy-paving' pattern. Following intubation due to impending respiratory failure, bronchoscopy with bronchoalveolar lavage was performed. The lavage return stained positive with Periodic Acid Schiff, confirming the diagnosis of PAP. Continued deterioration necessitated treatment; however, at this geographically remote center without ECMO services WLL was judged to carry significant risk. Nebulized GM-CSF was administered without significant improvement. Subcutaneous GM-CSF was administered and isolated subsegmental lavages of the bilateral upper lobes were performed, with rapid improvement in oxygenation. Additional sequential lobar lavage and continued GM-CSF therapy as an outpatient resulted in complete resolution of oxygen requirement and return to normal pulmonary physiology. CONCLUSIONS: The autoimmune form of PAP is the most common, indicating that therapy with GM-CSF may play an important role for many patients. Treatment with WLL may be impractical in some clinical settings due to the expertise and salvage modalities required. Sequential lobar lavage requires less specialized expertise and may incur less risk of refractory hypoxemia. We posit that this combined-modality therapy is ideally suited to geographically-remote centers such as our own.

Ovotesticular Disorders of Sexual Development: A Case of Hernia Uteri Inguinalis.

Ovotesticular disorders of sexual development result in the presence of both testis and ovarian tissue. Most commonly, gonadal structures in the scrotum or inguinal canal are comprised of testis tissue. The presence of a uterus within an inguinal hernia sac in a phenotypically male patient is referred to as hernia uteri inguinalis. This condition has rarely been reported in patients with ovotesticular disorders of sexual development. We present a patient with rare mosaicism in combination with an unusual location of Müllerian duct structures within an inguinal hernia sac.

Angioleiomyoma in a rare location: a case report.

A case report of a 38-year-old man with a 10 year history of left buttock mass associated with pain and numbness. A computed tomography scan showed a subcutaneous enhancing 1cm lesion that was not communicating with surrounding structures to include neurovascular structures. The mass was removed without complication and sent to pathology for extensive review. This case report signifies the importance of maintaining a broad differential with a subcutaneous mass presentation and includes thorough histology and pathology for angioleiomyoma.

Solitary intramedullary spinal cord tumor presenting as the initial manifestation of metastatic renal cell carcinoma: case report.

STUDY DESIGN: We present the case of a patient with a solitary neoplasm of the intramedullary spinal cord. OBJECTIVE: The tumor caused findings of Brown-Séquard syndrome and was the initial presentation of widely metastatic renal cell carcinoma (RCC). SUMMARY OF BACKGROUND DATA: Metastasis of the intramedullary spinal cord has been uncommonly reported and is extremely rare as the initial sign of a disseminated carcinoma. METHODS: The tumor was resected, and the patient's neurologic deficits slowly improved. The histopathology suggested an epithelioid neoplasm. However, despite expert review, the diagnosis was nonspecific, and the tumor appeared benign. RESULTS: It soon recurred in the spinal cord, and repeat imaging studies showed numerous new metastases and a primary renal neoplasm. Biopsy and a repeat histopathologic analysis confirmed RCC, and the patient died of disseminated disease within another 2 months. CONCLUSIONS: Despite being uncommon, spinal cord metastases should be considered in some patients before surgery because it may expedite diagnosis, mitigate the need for surgery, and improve the quality of life for these patients. Clinical factors suggesting metastasis include a personal or family history of malignancy or conditions predisposing to it, the presence of multiple tumors in the spinal cord or elsewhere, nonspecific constitutional symptoms, such as weight loss or decreased appetite, and, specifically for RCC, an abnormally increased hematocrit.

Resolution of an aggressive ideopathic diskitis.

We report a case of thoracic spine diskitis of unknown cause that had aggressive and destructive features on MR images. Results of two biopsies were unremarkable. The process began after sneezing, also produced extensive paraspinous enhancement, and resolved without antibiotic therapy both clinically and radiologically after four months. A discussion of case similarities to Reflex Sympathetic Dystrophy (RSD) in the extremities render this possibly the first reported imaging evidence of RSD in the axial skeleton.