Pineal Gland Tumor Research Articles

GCT-53. CASE OF INTRACRANIAL GROWING TERATOMA SYNDROME WITH DIFFICULTY IN TIMING OF RESECTION

BACKGROUNDIntracranial Growing teratoma syndrome(iGTS) is a phenomenon in which a tumor with a teratoma component grows during treatment, and its pathological tissue is often a mature teratoma. Here we report a case of iGTS in which the timing of surgery was determined by tumor markers and changes in tumor size on MRI images. CASE-REPORT: 11-year-old boy with a short stature. He developed a headache and we found a pineal gland tumor on MRI. Due to obstructive hydrocephalus, an endoscopic third ventriculostomy and biopsy were performed. The pathological diagnosis was mature teratoma, but AFP was elevated at 104.2 ng/mL. Considering NGGCT, we started chemoradiation immediately. Despite the declining AFP, it gradually increased, at which point we suspected iGTS. Resection was considered, but at some point tumor growth had stopped, so radiation therapy and a second course of ICE therapy preceded the resection. Thereafter, the tumor was completely removed, and a third course of ICE therapy was performed.DISCUSSIONThe onset mechanism of iGTS has not been elucidated, and its prediction is difficult. Early resection of the tumor is required, but discontinuation of radiation therapy and side effects of chemotherapy also need to be considered. In our case, resection was performed after normalization of AFP and recovery of myelosuppression. The patient followed an uneventful course, but the timing of resection was controversial.CONCLUSIONWe experienced a case of iGTS in NGGCT, a mixed tumor with mature teratoma. The optimal timing of the resection was discussed and literature was reviewed.

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

UBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X-linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations. Forty affected subjects have been reported thus far, with 31 cases having intragenic UBE2A variants. Here, we report on additional eight affected subjects from seven unrelated families who were found to be hemizygous for previously unreported UBE2A missense variants (p.Glu62Lys, p.Arg95Cys, p.Thr99Ala, and p.Arg135Trp) or small in-frame deletions (p.Val81_Ala83del, and p.Asp101del). A wide phenotypic spectrum was documented in these subjects, ranging from moderate ID associated with mild dysmorphisms to severe features including congenital heart defects (CHD), severe cognitive impairment, and pineal gland tumors. Four variants affected residues (Glu62, Arg95, Thr99 and Asp101) that contribute to stabilizing the structure of the E3 binding domain. The three-residue in-frame deletion, p.Val81_Ala83del, resulted from aberrant processing of the transcript. This variant and p.Arg135Trp mapped to regions of the protein located far from the E3 binding region, and caused variably accelerated protein degradation. By reviewing available clinical information, we revise the clinical and molecular profile of the disorder and document genotype-phenotype correlations. Pineal gland cysts/tumors, CHD and hypogammaglobulinemia emerge as recurrent features.

Erratum: Pineal Parenchymal Tumor with Intermediate Differentiation—A Case Report and Review of Literature from Rural India

Pineal gland tumors are rare tumors. According to World Health Organization (WHO) classification (2016) of the central nervous system, pineal parenchymal tumors of intermediate differentiation (PPTID) occupied their position between pineocytoma and pineoblastoma. It is either grade II or III. There are small numbers of reported cases, so its classification is still a matter of controversy. Here, we report a case of a 35-year-old man who presented with complaints of headache, nausea, vomiting, and focal weakness for 1 year. Computed tomography revealed an enhancing mass lesion in the region of pineal gland along with hydrocephalus. Following operation, histopathology of excised specimen was done, and it showed cellular tumor. Cells were having larger nuclei, vesicular chromatin pattern, ample cytoplasm, focal neuropil-like stroma along with moderate atypia, 3 to 5 mitotic figures per 10 hpf (high-power field), marked vascular proliferation, and pseudo rosette. Immunohistochemistry was found strongly positive for glial fibrillary acidic protein (GFAP) and neuron-specific enolase (NSE), variable for synaptophysin, and negative for neurofilament and epithelial membrane antigen (EMA). These findings confirmed the diagnosis. As this tumor is rare with uncertain behavior following available treatment, the case report of PPTID grade III large cell type may enrich the existing data and is being presented because of its rarity.

Role of endoscopic surgical biopsy in diagnoses of intraventricular/periventricular tumors: review of literature including a monocentric case series.

The intra- and periventricular location tumor (IPVT) of a brain remains a hard challenge for the neurosurgeon because of the deep location and eloquent anatomic associations. Due to this high risk of iatrogenic injury, many surgeons elect to perform biopsies of such lesions to establish a diagnosis. On the one hand, stereotaxic needle biopsy (SNB) is a minimally invasive procedure but with a significant risk of complications and a high risk of lack of tissue for molecular analyses for this region [Fukushima in Neurosurgery 2:110-113 (1978)]; on the other hand, the use of endoscopic intraventricular biopsy (EIB) allows for diagnosis with minimal surgical intervention [Iwamoto et al. in Ann Neurol 64(suppl. 6):628-634 (2008)]. IPVTs and related CSF pathway obstructions can be safely and effectively treated with endoscopic techniques. It is not possible to compare EIB with diagnoses made by any other method or with the established treatment. We aim to analyze the accuracy of EIB results by comparing them with results of biopsies performed later, in other methods and thereby evaluating the treatment evolution considering our personal experience. The difficulties and complications encountered are presented and compared with those reported in the literature to obtain the best review possible for this topic. A systematic review of literature was done using MEDLINE, the NIH Library, PubMed, and Google Scholar yielded 1.951 cases for EIB and 1912 for SNB, according to standard systemic review techniques. Review was conducted on 50 studies describing surgical procedures for lesions intra- and para-ventricular. The primary outcome measure was a diagnostic success. We also consider 20 patients with IPVT treated in our department. Clinical characteristics and surgical outcome were evaluated and a systematic review of the literature was performed. Overall, all our biopsies were diagnostic, with a positive histologic sample in 100% of our patients. 8 patients underwent a concurrent endoscopic third ventriculostomy. 4 patients underwent a concurrent ventriculostomy combined with septostomy. For 1 patient was necessary the only septostomy combined with biopsy. Every case has obtained a histological diagnosis. The percentage of complications was very low with only 1 case of post-operative infection and 1 case of hemorrhage. It was impossible to create a specific comparison from literature data of IPVTs between a stereotactic and endoscopic procedure, it presents only the collection of pineal gland tumor [Kelly in Neurosurgery 25(02):185-194 (1989); Quick-Weller in World Neurosurgery 96:124-128 (2016)] or unknown location of the lesion in major review [Marenco-Hillembrand et al. in Front Oncol 8:558 (2018)]. The present study aims to report our experience with the surgical management of IPVTs. The EIB sample yields an accurate histologic diagnosis tumor, with a positive histologic sample in 87, 95% of patients. The choice of the appropriate procedure should consider not only the preference and the experience of the neurosurgeon but also the several other variables as the location. While some periventricular lesions are better approached by endoscopic techniques, others are more suited for stereotactic-guided approaches. The ability to perform an EIB and relieve tumor-associated hydrocephalus by neuroendoscopy is considered to be a benefit of this procedure since this is less invasive than other treatments.

Adherence of US Insurance Payer Policies to the American Society of Radiation Oncology Stereotactic Radiosurgery Model Policy

PurposeThe medical necessity of stereotactic radiosurgery (SRS) is nonuniform across insurance policies. The American Society for Radiation Oncology (ASTRO) created a model policy based on the consensus of the radiation oncology community to communicate medically necessary indications for SRS. We compared the current insurance policies for SRS with those of the ASTRO model policy. Methods and MaterialsWe identified 58 insurance payers and 3 national benefits managers with SRS policies. Among these, 7 insurance payers were excluded for policies that were not reviewed after 2015 and for not detailing individual medically necessary indications. For each of the indications listed in ASTRO’s model policy, we determined the proportion of payers that considered SRS medically necessary. We compared these proportions for national versus regional payers and policies updated in the last 12 months versus those updated less often using Fisher exact and χ2 tests. ResultsAll insurance policies reviewed considered SRS as medically necessary for brain metastases, medically refractory trigeminal neuralgia, and arteriovenous malformations. Compared with national payers, regional payers were less likely to deem other schwannomas, and a boost for large cranial or spinal lesions medically necessary (P < .05). The indication with the lowest coverage was medically refractory movement disorders (44.4%), followed by medically refractory epilepsy (33.3%). However, policies that were updated within the last year were more likely to deem medical necessity for epilepsy, movement disorders, hemangioblastoma, pineal gland tumors, and other schwannomas. ConclusionsSignificant discrepancy remains among insurance policies for several indications in ASTRO’s model policy for SRS; however, national payers and those with recent policy updates have a greater concordance with the ASTRO model policy.

Pineal Gland Tumor Microenvironment.

A wide and heterogeneous variety of tumors develop from the pineal gland. Pineal parenchymal tumors, germ cell tumors, and glial tumors represent most of them. The molecular profiles and tumor microenvironment play a key role in the development and progression of pineal gland tumors. Consequently, they represent important factors that may determine the efficacy of the different treatment modalities and the clinical outcome. Current literature is scarce regarding the microenvironment research of pineal gland tumors. Here, we review the cellular and molecular profile of the pineal gland tumor microenvironment.

Magnetic Resonance Imaging Screening for Trilateral Retinoblastoma: The Memorial Sloan Kettering Cancer Center Experience 2006–2016

Magnetic resonance imaging (MRI) has been used for baseline brain imaging and afterward as a screening tool for trilateral retinoblastoma (TRB), but there is no consensus on timing or frequency of screening worldwide. In this study, a cohort of hereditary retinoblastoma patients at increased risk for TRB was identified and the usefulness of aggressive neuroimaging was examined. Retrospective review of the medical records and MRI reports of patients with retinoblastoma treated at Memorial Sloan Kettering Cancer Center between January 1, 2006, and December 31, 2016. Three hundred forty-nine total patients with retinoblastoma, including 215 hereditary retinoblastoma patients in the screening group. We reviewed 804 MRI studies of the orbit or brain. Patient and disease characteristics, including laterality, family history, and gene mutation status were analyzed. The impression of every MRI was coded 1 to 5, each value representing a different abnormality. We calculated the incidence of TRB in patients with germline disease as well as the incidence of screening MRI scans showing TRB. Among our hereditary retinoblastoma screening cohort (n=215) 4 patients with TRB were identified on screening MRI. All 4 patients showed bilateral disease, pineal gland tumors, and a latency period of at least 1 year. Three of the 4 were deceased by the end of the study. The incidence of TRB diagnosis was 1.9% (95% confidence interval [CI], 0.7%-4.9%). Of the 804 screening MRI scans performed on the screening cohort, 691 (86%) were unremarkable and 4 reported a lesion suspicious for TRB. The overall incidence of detecting TRB on screening MRI in the at-risk cohort was 0.5% (95% CI, 0.2%-1.3%) with a number needed to treat of 202. All cases of TRB in our center during the study period developed before the patient was 3 years of age and after a total of only 4 lifetime MRIs. Overall survival from TRB was not improved as a result of screening, andmany false-positive results required additional, subsequent MRI scans with anesthesia.

Dorsal midbrain syndrome secondary to pineal gland tumours: case series and review on manifestations, management and outcome

Dorsal midbrain syndrome or Parinaud syndrome is a supranuclear brainstem syndrome involving the vertical gaze centre. These are case series with three patients who were diagnosed with dorsal midbrain syndrome secondary to pineal gland tumours. The prognosis varied depending on tumour types, age of presentation and treatment received. All of them were presented with life-threatening obstructive hydrocephalus. Our first patient was successfully treated with emergency surgery followed by radiotherapy. He regained normal visual acuity and full recovery of his ocular movement. Second and third patients had undergone surgery for raised intracranial pressure. Both had an inoperable pineal gland tumour. As for our second patient, we detected a worsening of vertical gaze during his four years follow-up. However, his bilateral good visual acuity was preserved. The third patient passed away as a result of uncontrolled enlarging tumour. We also briefly reviewed the clinical presentation, diagnosis, and therapeutic approach of the three patients. One of the caveats is that urgent radiological study is crucial to differentiate the tumour type via the pathognomonic features and to delineate the tumour extension. The preferable treatment options vary among each tumour type. A multidisciplinary approach is crucial in early detection, in addition to treatment initiation and long term follow up to achieve a better outcome.

Primary pineal tumors - Unraveling histological challenges and certain clinical myths.

Pineal gland tumors range from the well-differentiated "pineocytoma" [World Health Organization (WHO) grade I], which have a very good prognosis, to the aggressive and poorly differentiated "pineoblastoma" (WHO grade IV) with "pineal parenchymal tumor of intermediate differentiation" (PPTID; WHO grades II and III) occupying intermediary differentiation and prognosis. Papillary tumor of the pineal region (PTPR; WHO grades II and III) is a distinct entity with propensity for recurrence and spinal dissemination. However, the diagnostic criteria to differentiate these entities, especially between WHO grades II and III of both PPTID and PTPR, remain nebulous. To evaluate the relative frequency of the individual entities and histomorphological (including the proliferation indices) features across the spectrum of pineal parenchymal tumors (PPTs) [including PTPRs] along their course. All cases of PPTs were retrieved, reviewed, and graded based on the histological criteria defined in the literature. PPTID, more commonly seen in young adults, was the most common subtype of PPT. This was followed by pineoblastoma which was more commonly seen in children. Clinical progression was seen in both grades II and III of PPTID; however, it was more commonly seen in cases with a MIB1 labeling index of >10%. PTPRs (both grades II and III) showed an aggressive histological transformation and also intraparenchymal metastasis. PPTIDs are the most common adult primary PPTs and have the potential to progress and disseminate in both grades II and III. Both grades of PTPRs have a metastatic potential. These findings suggest the need for postoperative adjuvant therapy in both grades of PPTID and PTPR.

Peripheral Precocious Puberty Caused by Human Chorionic Gonadotropin Producing Pineal Gland Tumor

Pineal gland lesions usually present with central precocious puberty. A 3½-yr-old boy presented with precocious puberty. Clinically and biochemically, it was gonadotropin releasing hormone (GnRH) independent. Serum and CSF beta-hCG levels were increased. Thin section magnetic resonance imaging of brain revealed a pineal gland tumor. He received chemotherapy followed by radiotherapy and responded well. CSF beta-hCG should be measured in all cases of peripheral precocity, and if CSF beta-hCG is elevated, thin section magnetic resonance imaging of brain should be considered.

DICER1 gene mutations in endocrine tumors.

In this review, the importance of the DICER1 gene in the function of endocrine cells is discussed. There is conclusive evidence that DICER1 mutations play a crucial role in the development, progression, cell proliferation, therapeutic responsiveness and behavior of several endocrine tumors. We review the literature of DICER1 gene mutations in thyroid, parathyroid, pituitary, pineal gland, endocrine pancreas, paragangliomas, medullary, adrenocortical, ovarian and testicular tumors. Although significant progress has been made during the last few years, much more work is needed to fully understand the significance of DICER1 mutations.

Descartes Comes Out of the Closet

While “Descartes Comes Out of the Closet” is ostensibly about a young woman’s journey to Paris, the descriptive detail borrows language and images from Cartesian coordinate geometry, dualistic philosophy, neuroanatomy (the pineal), and projections of three dimensions onto planes. This mathematical universe is counterpointed in the natural language of the suppressed love story that locates the real in the human. Thus, at the heart of the story is the tension between competing notions of mathematics, i.e., as either an independent realm apart from history or as a culturally produced and historical set of practices. Of course, the central character proves to suffer from a pineal gland tumor, so the mechanisms of reconciliation aren’t functioning very well.

Parinaud syndrome: Any clinicoradiological correlation?

The significance of MRI findings of patients with Parinaud syndrome (PS) with respect to clinical characteristics is poorly defined. Over the past decades, all patients with PS undergo magnetic resonance imaging which allows a better identification of the lesion localization. We compared the neuro-ophthalmological findings of patients with PS caused by intrinsic (intra-axial) vs extrinsic (pineal gland tumor) brainstem lesions. Medical records of patients with PS evaluated between 2000 and 2016 were retrospectively reviewed. Twenty-six patients with PS were included. Eight patients had pineal gland tumors and hydrocephalus. Two patients had hydrocephalus due to aqueduct stenosis and fourth ventricle tumor. Sixteen patients suffered from an intrinsic brainstem lesion and seven associated with hydrocephalus. The neuro-ophthalmological findings did not differ between patients with extrinsic and intrinsic brainstem lesions. No correlation was found between the grade of hydrocephalus and number of clinical findings except for more findings in low-grade hydrocephalus in intrinsic (40%) vs extrinsic (0%) lesions (P=.003). Patients with moderate brainstem lesions and hydrocephalus had more clinical findings (65%) than patients with the same grade of brainstem involvement without hydrocephalus (29%) (P=.03). The resolution rate of ophthalmological findings was comparable in all groups of patients. Our results did not show differences in neuro-ophthalmological findings between intra- and extra-axial lesions causing PS. However, the presence of hydrocephalus was an important factor influencing clinical findings. The prognosis of PS was less favorable than generally reported.

RARE-31. OUTCOME AND PROGNOSTIC FEATURES FOR PEDIATRIC PINEAL GLAND TUMORS

Pineal gland tumor is a rare type of brain neoplasm, which typically occurs in children and young adults. However, systematic study of pineal gland tumor has been difficult given its low incidence. Using NCI Surveillance, Epidemiology, and End Results registry (1973-2012), we identified 593 patients of age 18 or younger with the diagnosis of malignant tumor located in pineal gland. The impact of radiotherapy (RT) and surgery on overall survival (OS) was determined using Log-rank test and multivariate Cox proportional hazard modeling. The major histological categories were germ cell tumor (GCT, 64.9%) and pineal parenchymal tumor (PPT, 28.3%). RT was delivered to 71.3% of patients. 11.5% of patients underwent sub-total resection (STR), while 20.2% underwent gross total resection (GTR). OS for all patients at 10 years was 69.3%. Pediatric patients with GCT were predominantly male (93.0%), and that for PPT was only 48.8% (p<0.01). The mean age for GCT is 13.1 years while that for PPT was 7.7 years (p<0.01). OS at 10 years was better for GCT (79.4%) than for PPT (47.5%). Using multivariate analysis, the delivery of RT was associated with improved OS among all 593 pineal gland tumor patients (HR 0.505, 95% CI 0.360-0.719, p<0.01). Specifically, RT was found to prolong OS in patient subgroups with germinoma (HR 0.286, 95% CI 0.137-0.624, p<0.01) or PPT (HR 0.387, 95% CI 0.233-0.646, p<0.01), but no survival benefit was seen for RT among patients with nongerminomatous GCT (HR 0.668, 95% CI 0.313-1.398, p=0.32). Histology is an important prognostic factor for pediatric patients with pineal gland tumor, with male predominance, older age at diagnosis, and improved OS for GCT compared to PPT. Our study also suggests beneficial effect of RT to prolong OS among all patients and those within subgroups of GCT or PPT.

Occurrence of Pineal Gland Tumors in Combined Chronic Toxicity/Carcinogenicity Studies in Wistar Rats.

Pineal gland tumors are very rare brain lesions in rats as well as in other species including humans. A total of 8 (out of 1,360 examined) Wistar rats from 3 different combined chronic toxicity/carcinogenicity or mere carcinogenicity studies revealed pineal gland tumors. The tumors were regarded to be spontaneous and unrelated to treatment. The morphology and immunohistochemical evaluation led to the diagnosis malignant pinealoma. The main characteristics that were variably developed within the tumors were the following: cellular atypia, high mitotic index, giant cells, necrosis, Homer Wright rosettes, Flexner-Wintersteiner rosettes and pseudorosettes, positive immunohistochemical reaction for synaptophysin, and neuron-specific enolase. The pineal gland is not a protocol organ for histopathological examination in carcinogenicity studies. Nevertheless, the pineal gland can occasionally be encountered on the routine brain section or if it is the origin of a tumor protruding into the brain, the finding will be recorded. Therefore, although known to be a rare tumor in rats, pineal neoplasms should be included in the list of possible differential diagnoses for brain tumors, especially when the tumor is located in the region of the pineal body.

The sub-occipital transtentorial approach revisited base on our own experience

The surgical experience of the sub-occipital approach for treatment of pineal gland and pineal region tumors is reported. This approach was originally proposed by Jamieson and modified by Lapras who by changing the shape of the bone flap obtained the elevation of the occipital lobe which consequently resulted in a better exposition of this deep region. The reason why this approach became the basis for their treatment is particularly related to the personal experience of Lapras who reported his fantastic experience of surgery in this deep area and demonstrated the advantages of the sub-occipital transtentorial approach. MaterialOut of 277 patients operated from 1982 to 2012 in Lyon for a pineal tumor, 233 were treated by a sub-occipital approach: 153 males, 125 females, 75 patients of pediatric age. The majority of patients were operated on in a sitting position which represents a surgical specialty of the anesthesiological school of Lyon. ResultsComplete tumor removal was possible in 135 patients (58%) and partial in 60 patients (26%). For 38 patients, it was not possible to establish the quality of surgical resection. The incidence of hemianopsia decreased to less that 2% of cases while the incidence of severe pneumocephaly which requires a prolonged intensive care hospitalization was less than 4% of cases. Mortality related to this surgical approach in the Lyonnais school series was 0% during this period. ConclusionIn our experience the sub-occipital transtentorial approach seems to us the best approach for pineal tumors because it permits a large exposition of the pineal region favoring the removal of the tumor with a lateral extension and also for tumors extending low into the posterior cranial fossa. In fact, this is our preferred approach because it has been used in a large majority of cases. However, surgeons have to be familiar with other possible approaches to obtain the best result in terms of removal and also to decrease the rate of sequelae to improve the quality of life of these patients.

Acute Adult Onset Comitant Esotropia Associated with Accommodative Spasm

Acute onset comitant esotropia associated with spasm of accommodation in children and adults is a rare clinical condition. When occurring with pupillary miosis and restricted ocular motility, it is referred to as "spasm of near reflex" (SNR) and may require neurological investigation. The natural history of SNR depends on its etiology. There is little information in the literature regarding the long-term follow-up of SNR and the stability of visual signs and symptoms following cessation of treatment. We report a case of SNR in an otherwise healthy young male, and discuss the presentation, clinical investigations, management, response to treatment, and 1-year follow-up. A 23-year-old male patient reported to the clinic with sudden onset of blurred vision, inward deviation of the eyes, and binocular diplopia. On examination, he was diagnosed to have acute onset esotropia resulting from SNR. He was treated with cycloplegic medications and vision therapy. The condition resolved following 1 year and there has been no recurrence. Acute adult onset esotropia occurring with accommodative spasm responds favorably to cycloplegic medications but may need a longer course of treatment for successful resolution and stability.

Radiothérapie des tumeurs cérébrales : quelles marges ?

Radiotherapy is a major modality in the treatment of brain tumours. The target volumes definition has to be precise for the radiation planification. The gross target volume (GTV) is most of the time delineated within the fusion of the planning CT scan with the appropriated MRI sequences. The clinical target volume (CTV) definition is more complex: it varies in time following the evolution of scientific knowledge and also depending of the school of thought. This article offers a review of the literature about the margins applied in brain tumours radiotherapy for gliomas (high grade, anaplastic, low grade and brain stem gliomas), embryologic tumours (medulloblastomas and primitive neuroectodermal tumours [PNET]), ependymomas, atypical teratoid rahbdoid tumours (ATRT), craniopharyngiomas, pineal gland tumours, primary central nervous cell lymphomas, meningiomas and schwannomas. New imaging modalities such as diffusion-weighted imaging, dynamic contrast enhanced, spectroscopic MRI and PET scan will allow us to delineate more precisely the target volumes and to realise dose-painting by adapting the dose to the tumour metabolism.

Ophthalmological outcome after resection of tumors based on the pineal gland

Descriptions of visual dysfunction in pineal gland tumors tend to focus on upward gaze palsy alone. The authors aimed to characterize the nature, incidence, and functional significance of ophthalmological dysfunction after resection of tumors based on the pineal gland. Review of a retrospective case series was performed and included consecutive patients who underwent surgery performed by a consultant neurosurgeon between 2002 and 2011. Only tumors specifically based on the pineal gland were included; tumors encroaching on the pineal gland from other regions were excluded. All patients with visual signs and/or symptoms were reviewed by a specialist consultant neuroophthalmologist to accurately characterize the nature of their deficits. Visual disturbance was defined as visual symptoms caused by a disturbance of ocular motility. A total of 20 patients underwent resection of pineal gland tumors. Complete resection was obtained in 85%, and there were no perioperative deaths. Visual disturbance was present in 35% at presentation; of those who had normal ocular motility preoperatively 82% had normal motility postoperatively. In total, 55% of patients had residual visual disturbance postoperatively. Although upward gaze tended to improve, significant functional deficits remained, particularly with regard to complex convergence and accommodation dysfunction. Prisms were used in 25% but were only ever partially effective. Visual outcome was only related to preoperative visual status and tumor volume (multivariate analysis). Long-term visual morbidity after pineal gland tumor resection is common and leads to significant functional impairment. Improvement in deficits rarely occurs spontaneously, and prisms only have limited effectiveness, probably due to the dynamic nature of supranuclear ocular movement coordination.

Autoimmune Polyendocrine Syndrome: A Case-Based Review

You are seeing a 14-year-old white male athlete with atopy who complains of a 6-month history of progressive proximal muscle weakness, which significantly impacts his ability to run short distances and swing his baseball bat. His mother states he has presented to multiple emergency departments (ED) for continued weakness and that most diagnosed him with dehydration and educated the family on how to maintain fluid balance. At his last ED visit, a creatine kinase (CK) level was drawn and found to be elevated at 1,247 U/L (normal range 9-185 U/L). A referral to a neurologist was made. The neurologist noted worsening fatigue, dizziness, and a documented 17-pound weight loss at the patient’s initial visit. A possible infectious versus progressive inflammatory myositis was suspected. The neurologist recommended an electromyography (EMG) to evaluate the patient’s proximal muscle weakness. Prior to completion of this EMG, the teen presents to your clinic now complaining of pre-syncopal events. On further review of symptoms, you note the patient has persistent polydipsia, headaches, nausea/vomiting, intermittent abdominal pain, and hyperpigmentation. Family history is negative for myopathies or dystrophies, but positive for hypothyroidism (mother), pineal gland tumor s/p resection (father), and rheumatoid arthritis (maternal grandmother). PHYSICAL EXAMINATION Initial physical examination reveals an afebrile, thin, adolescent male with orthostatic blood pressure changes of 113/59 mm Hg at rest and 89/44 mm Hg while standing; a pulse of 87 beats/ min; and a respiratory rate of 16 breaths/ min. His HEENT exam reveals equally reactive pupils with moist mucous membranes and no thyromegaly. His neurologic exam including cranial nerves, mental status, speech, gait, and coordination is unremarkable; there is no tremor noted. His muscle strength is noted to be 4/5 in the quadriceps bilaterally but 5/5 throughout the rest of his muscle groups. His muscle bulk and tone are mildly decreased. His cardiovascular, pulmonary, and abdominal exams are all benign. He has physiologic pubertal gynecomastia with mild tenderness. His genitourinary examination reveals normal appearing Tanner 3 male genitalia. His skin exam is remarkable for diffuse hyperpigmentation, which extends into his intertriginous areas and most notably the palms and creases of his hands. Flexor surfaces on his arms and diffuse areas on his face show ecAutoimmune Polyendocrine Syndrome: A Case-Based Review