Sertoli cell tumor and intratubular germ cell neoplasia located in separate gonads in an adolescent patient with complete androgen insensitivity: a case report and review of literature.

Complete androgen insensitivity syndrome (AIS) is an X-linked disorder of sex development. Surgical management entails timely gonadectomy given the risk of malignant transformation. Our patient presented at age 15 years with primary amenorrhea. Initial laboratory testing showed elevated testosterone, luteinizing hormone, anti-Müllerian hormone levels, and 46,XY karyotype. Imaging studies showed no uterus, ovaries, and identified two candidate gonads. She underwent bilateral gonadectomy. Pathology reports revealed Sertoli cell and intratubular germ cell tumors located in separate gonads. Our case is the first report of the youngest patient with AIS with bilateral gonadal tumors derived from different histological origins. We also review literature for reports of AIS patients with gonadal tumors. Currently, there is no consensus for the timing of gonadectomy in AIS patients. However, given the varying potential for malignant transformation of gonads in AIS patients with different phenotypes, development of a standardized treatment guideline is indicated.

Acanthamoeba meningoencephalitis presenting as neuropsychiatric lupus in a pediatric patient.

We present the case of a 16-year-old patient with systemic lupus erythematosus who presented with altered mental status and regressive behaviour. She was worked up and empirically treated for common and opportunistic infectious agents. All work-up was negative and after an extensive course of antibiotics she was treated for neuropsychiatric lupus with cytoxan. She initially responded, but this was short-lived and she eventually became comatose and passed away. On brain biopsy she was found to have numerous trophozoites with round nucleus, prominent nucleolus and thin nuclear membrane. Methenamine silver stain showed encysted amoeba, corresponding with a diagnosis of acanthamoeba meningoencephalitis. Making the diagnosis of acanthamoeba meningoencephalitis requires a high degree of suspicion. Specific serum antibodies may not be a reliable measure in immunocompromised patients and trophozoites in CSF can be confused with monocytes. Brain biopsy may be required to make a definitive diagnosis. It is important for clinicians treating immunocompromised patients to keep this agent in mind in an immunocompromised patient with neurological manifestations. Acanthamoeba infections have only been reported in a small handful of patients and, to our knowledge, this is the first reported case in the United States.