Young Woman with Unexplained Neutropenia and Neutrophils with Bilobed Nuclei: Marrow Findings.

A 27-year-old female with a history of chronic sinusitis was referred for the evaluation of asymptomatic neutropenia. The differential demonstrated a mild neutropenia, which eventually resolved on subsequent evaluation. The liver and the spleen were not palpable. Peripheral flow cytometry was normal. Peripheral blood smear (PBS) demonstrated numerous Pelger-Huet anomalous neutrophils with characteristic "pince-nez" nuclei, without significant abnormalities in the other cell lines. Due to the benign clinical nature of hereditary PHA, a bone marrow biopsy is almost never required. However, our patient's persistent and worsening neutropenia was unusual for hereditary PHA, so a bone marrow biopsy was performed to rule out MDS and leukemia. Our patient's bone marrow smears showed dysplastic changes to other cell lines including the megakaryocytes and erythroid precursors. Due to our patient's young age and concern that she may have a more serious marrow disorder, genetic testing was pursued. Germline testing in the LBR gene revealed a heterozygous pathogenic mutation, namely, the PR57837.17 variant, confirming the diagnosis of hereditary disease. The bone marrow biopsy performed on our patient illustrates that the presence of dysplasia does not rule out hereditary PHA and further genetic testing should be done in the appropriate clinical scenario. This case was an atypical presentation of hereditary PHA with confounding morphological features that would typically classify the disease as an acquired or pseudo-PHA, hence acting as a Pseudo-Pseudo-Pelger-Huet Anomaly.

Uncovering the Uncommon: An 81-Year-Old Woman With Elevated Carcinoembryonic Antigen (CEA) but Normal Calcitonin Levels Diagnosed With Medullary Thyroid Carcinoma.

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor. However, non-elevated calcitonin levels have been reported in the literature. We present the case of an 81-year-old woman with chronic elevations in carcinoembryonic antigen (CEA) levels for the past 15 years, despite normal calcitonin levels, who was ultimately diagnosed with MTC. The patient had a remote history of breast cancer and presented with symptoms of unintentional weight loss, fatigue, and joint pain. A positron emission tomography (PET) scan revealed low fluorodeoxyglucose (FDG) uptake in partially calcified thyroid nodules, and fine needle aspiration cytology was consistent with medullary carcinoma. The patient underwent total thyroidectomy, with pathology revealing a pT1aN0M0 medullary thyroid microcarcinoma with negative margins. After thyroidectomy, CEA levels decreased to within the normal range, and calcitonin levels remained normal. This case highlights the importance of considering MTC in patients with unexplained chronic elevations in CEA levels, even with normal calcitonin levels.

COVID-19 Mask Mandates in NY and Their Effect on the Incidence of Flu.

Objective: The goal of the study is to quantify the reduction in the cases of influenza and how this decrease in incidence correlates with the execution of masking requirements in public as well as social distancing. Methods: Influenza statistics were collected from Northwell Health, a 23-hospital system located throughout New York State. Positive influenza results were collected representing the 2018-2019 Flu season, 2019-2020 Flu season, and compared to the 2020-2021 Flu season, which corresponded to the mask mandates and social distancing measures implemented in NYS. Results: Our data showed a dramatic decrease in influenza rates during the 2020-2021 Flu season, which corresponded to NYS's strict social distancing and mask requirements during the pandemic. This shows a steep decline correlating with the implementation of public health mandates directed at decreasing the spread of aerosolized particles between members of the population. Conclusion: Our data show a significant decrease in the number of positive influenza tests during the same period of time when COVID-19 social distancing and mask-wearing requirements were in effect.

A Novel B7-H6-Targeted IgG-Like T Cell-Engaging Antibody for the Treatment of Gastrointestinal Tumors.

PURPOSE: Advanced-stage gastrointestinal cancers represent a high unmet need requiring new effective therapies. We investigated the antitumor activity of a novel T cell-engaging antibody (B7-H6/CD3 ITE) targeting B7-H6, a tumor-associated antigen that is expressed in gastrointestinal tumors. EXPERIMENTAL DESIGN: Membrane proteomics and IHC analysis identified B7-H6 as a tumor-associated antigen in gastrointestinal tumor tissues with no to very little expression in normal tissues. The antitumor activity and mode of action of B7-H6/CD3 ITE was evaluated in in vitro coculture assays, in humanized mouse tumor models, and in colorectal cancer precision cut tumor slice cultures. RESULTS: B7-H6 expression was detected in 98% of colorectal cancer, 77% of gastric cancer, and 63% of pancreatic cancer tissue samples. B7-H6/CD3 ITE-mediated redirection of T cells toward B7-H6-positive tumor cells resulted in B7-H6-dependent lysis of tumor cells, activation and proliferation of T cells, and cytokine secretion in in vitro coculture assays, and infiltration of T cells into tumor tissues associated with tumor regression in in vivo colorectal cancer models. In primary patient-derived colorectal cancer precision-cut tumor slice cultures, treatment with B7-H6/CD3 ITE elicited cytokine secretion by endogenous tumor-infiltrating immune cells. Combination with anti-PD-1 further enhanced the activity of the B7-H6/CD3 ITE. CONCLUSION: These data highlight the potential of the B7-H6/CD3 ITE to induce T cell-redirected lysis of tumor cells and recruitment of T cells into noninflamed tumor tissues, leading to antitumor activity in in vitro, in vivo, and human tumor slice cultures, which supports further evaluation in a clinical study.

Routine Screening Mammogram Leading to the Incidental Diagnosis of a Metastatic Neuroendocrine Breast Cancer (NEBC) from an Unrecognized Asymptomatic Small Bowel Neuroendocrine Tumor.

Neuroendocrine neoplasms (NENs) are epithelial neoplasms with predominant neuroendocrine differentiation that arise in the gastrointestinal tract, unique to the site of origin, such as the pancreas and small intestine. Neuroendocrine breast carcinoma (NEBC) is a rare tumor. Diagnosing NEBC is challenging because there is no specific clinical presentation, as it is usually presented as a breast lump. Therefore, diagnosing NEBC before biopsy is difficult. Another challenge in diagnosing NEBC is to know whether it is primary or metastatic. We present a case of a 60-year-old woman found to have a solid left breast nodule during routine screening mammography. Tissue biopsy was found to be consistent with metastatic NEBC. The patient was found to have primary small intestine asymptomatic NENs on further diagnostic tests. Eventually, she had a lumpectomy and started on lanreotide (Somatuline) intramuscular monthly injections. As per literature, metastatic NEBC is infrequent. It was considered a poor prognostic breast tumor, as it is usually presented as hormonally negative breast cancer. Management of metastatic versus primary NEBC is still more controversial. Gastroenteropancreatic NENs are treated with long-acting somatostatin analogs with good prognostic results.

Diabetic Ketoacidosis Unmasking a Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report and Literature Review.

Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common enzyme deficiency. Mode of inheritance is X-linked recessive with a high prevalence in endogamous marriages, such as Jehovah's Witness. Oxidative triggers such as infection, ingestion of certain medications, certain types of food, and in rare instances diabetic ketoacidosis (DKA) may unmask the diagnosis by triggering a hemolytic event. We describe the case of a 43-year-old male with type 2 diabetes who presented with DKA and subsequently became anemic four days after his admission, with the hemoglobin continuing to fall. After extensive workup, it was found that the patient had G6PD confirmed by a low glucose-6-phosphate dehydrogenase assay. We hypothesized that the oxidative stress from the DKA unmasked G6PD induced hemolysis in our patient. During our literature search, we also noticed that hemolysis was delayed on average by four to seven days in these patients after the initiation of insulin therapy similar to our patient. It is postulated that the delayed onset of hemolysis may be due to high levels of glucose in the blood. Hyperglycemia may offset the effects of G6PD deficiency by increasing the production of G6PD. When the levels of glucose start falling, hemolysis becomes apparent.

Granisetron Extended-Release Subcutaneous Injection versus Palonosetron Infusion for CINV Prevention: Cost Comparison of Unscheduled Hydration.

Background: Granisetron extended-release subcutaneous (SC) injection is a novel formulation of granisetron for the prevention of acute and delayed chemotherapy-induced nausea and vomiting (CINV). Palonosetron is administered intravenously and is indicated for CINV prevention in acute and delayed phases after the use of moderately emetogenic chemotherapy (MEC) and in the acute phase after highly emetogenic chemotherapy (HEC). No data are available regarding the impact of SC granisetron on the cost of unscheduled hydration compared with other antiemetic drugs, specifically the older-generation palonosetron. Objective: To compare the costs of unscheduled hydration associated with breakthrough CINV after SC granisetron versus palonosetron administration in patients receiving MEC or HEC. Methods: This retrospective analysis was based on electronic medical records data from a single multicenter, community-based practice involving patients receiving MEC or HEC with a 3-drug antiemetic regimen, including a neurokinin-1 receptor antagonist, dexamethasone, and either SC granisetron or palonosetron. A cost-of-care analysis for SC granisetron and palonosetron was based on the maximum per-unit Medicare reimbursement amounts for the use of unscheduled hydration, administration of rescue antiemetic drugs, laboratory tests, and patient office evaluations. Results: A total of 182 patient records were evaluated, 91 for patients receiving SC granisetron and 91 receiving palonosetron. The mean per-patient cost of care related to unscheduled hydration in patients receiving HEC or MEC was significantly lower with SC granisetron ($296) than palonosetron ($837; P <.0001), including subset analysis of patients requiring additional care (SC granisetron [$691], N = 39; palonosetron [$1058], N = 72; P = .0260). The mean hydration costs per patient receiving HEC or MEC were lower with SC granisetron ($62) than with palonosetron ($253; P <.0001). The hydration costs per patient receiving only HEC were lower with SC granisetron ($66) than palonosetron ($280; P <.0001). The per-patient costs were lower when SC granisetron was administered than when palonosetron was administered as part of the antiemetic regimen, except for the cost of rescue antiemetic drug in patients receiving MEC. Fewer median unscheduled hydration therapies per patient were used with SC granisetron versus palonosetron (HEC, 3 vs 5; MEC, 2 vs 3). Conclusion: The use of SC granisetron reduced the total per-patient costs of care associated with unscheduled hydration compared with palonosetron in patients receiving HEC or MEC for breakthrough CINV events.

Granisetron Extended-Release Subcutaneous Injection versus Palonosetron Infusion for CINV Prevention: Cost Comparison of Unscheduled Hydration.

Background: Granisetron extended-release subcutaneous (SC) injection is a novel formulation of granisetron for the prevention of acute and delayed chemotherapy-induced nausea and vomiting (CINV). Palonosetron is administered intravenously and is indicated for CINV prevention in acute and delayed phases after the use of moderately emetogenic chemotherapy (MEC) and in the acute phase after highly emetogenic chemotherapy (HEC). No data are available regarding the impact of SC granisetron on the cost of unscheduled hydration compared with other antiemetic drugs, specifically the older-generation palonosetron. Objective: To compare the costs of unscheduled hydration associated with breakthrough CINV after SC granisetron versus palonosetron administration in patients receiving MEC or HEC. Methods: This retrospective analysis was based on electronic medical records data from a single multicenter, community-based practice involving patients receiving MEC or HEC with a 3-drug antiemetic regimen, including a neurokinin-1 receptor antagonist, dexamethasone, and either SC granisetron or palonosetron. A cost-of-care analysis for SC granisetron and palonosetron was based on the maximum per-unit Medicare reimbursement amounts for the use of unscheduled hydration, administration of rescue antiemetic drugs, laboratory tests, and patient office evaluations. Results: A total of 182 patient records were evaluated, 91 for patients receiving SC granisetron and 91 receiving palonosetron. The mean per-patient cost of care related to unscheduled hydration in patients receiving HEC or MEC was significantly lower with SC granisetron ($296) than palonosetron ($837; P <.0001), including subset analysis of patients requiring additional care (SC granisetron [$691], N = 39; palonosetron [$1058], N = 72; P = .0260). The mean hydration costs per patient receiving HEC or MEC were lower with SC granisetron ($62) than with palonosetron ($253; P <.0001). The hydration costs per patient receiving only HEC were lower with SC granisetron ($66) than palonosetron ($280; P <.0001). The per-patient costs were lower when SC granisetron was administered than when palonosetron was administered as part of the antiemetic regimen, except for the cost of rescue antiemetic drug in patients receiving MEC. Fewer median unscheduled hydration therapies per patient were used with SC granisetron versus palonosetron (HEC, 3 vs 5; MEC, 2 vs 3). Conclusion: The use of SC granisetron reduced the total per-patient costs of care associated with unscheduled hydration compared with palonosetron in patients receiving HEC or MEC for breakthrough CINV events.

Educating Internal Medicine Residents on Palliative Medicine and Hospice Care at a Community Teaching Hospital.

BACKGROUND: The Accreditation Council of Graduate Medical Education (ACGME) currently requires Internal Medicine (IM) GME programs to incorporate educational opportunities for training and structured experiences in Palliative and Hospice Medicine. Miscomprehension of the differences between palliative medicine and hospice care is a barrier for IM residents ordering palliative consults as many residents may underutilize palliative medicine if a patient is not appropriate for hospice. OBJECTIVE: This educational performance improvement (PI) project assessed 3 domains, including Medical Knowledge (MK) of palliative versus hospice medicine at baseline and following a single didactic session. Additionally, the number of palliative consults ordered was used as a surrogate for interpersonal and communication skills (ICS) and patient care (PC) domains. METHODS: An 8-question survey and 30-minute didactic session were created based upon experientially-determined issues most confusing to IM residents. Participants included 33 IM residents (PGY-1s-3 s) from July 2018 (first cohort) and 32 (PGY-1 s and any PGY-2s-3 s who did not participate in the first cohort) from July 2019 (second cohort). RESULTS: 65 of a possible 73 residents participated (89% response rate) Pre-test Questions 5, 6, and 8 correct responses were <50% in both cohorts with average scores, respectively, of 43.1%, 35.4%, and 40%. Residents improved on the post-test for Q5, 6, 8 to, respectively, 80%, 86.7%, and 48.3% (t = 7.68, df = 59, p < 001). Correct Q1 responses declined in the first cohort, but clarification for the second cohort improved from pre-test (36.4%) to post-test (65.5%). The total number of palliative consults placed by IM residents increased as well. CONCLUSIONS: Baseline MK of palliative versus hospice medicine was <50% on 4/8 questions. A brief educational session significantly improved residents' short-term comprehension and increased the number of palliative consults.

30-day readmission prevention program in heart failure patients (RAP-HF) in a community hospital: creating a task force to improve performance in achieving CMS target goals.

In 2012, Centers for Medicare and Medicaid Services (CMS) announced it would penalize any hospitals that had 30-day readmission rates for heart failure (HF) patients above 20%. Mather Hospital Northwell Health, a community teaching hospital, organized a proactive task force to meet these goals. We describe our hospital-wide Readmission Prevention in Heart Failure (RAP-HF) project. We focused on the following interventions: early identification of patients at risk for readmission, discipline-specific mitigation planning by the interdisciplinary rounding team, enhanced medication education for heart failure patients, education of family/caregivers on medication and heart failure symptoms, facilitation in scheduling of post-discharge follow up visits and hard-wired communication between hospital and post-discharge care providers. We saw a 25.53% decrease in 30-day readmission rates.

Tension Pneumocephalus in a Tracheostomized, Chronically Ventilated, Duchenne's Muscular Dystrophy Patient Without Prior Head Trauma.

Tension pneumocephalus is a rare condition that can be a life-threatening neurosurgical emergency. It usually results from head trauma, but there have been case reports of iatrogenic causes including on non-invasive mechanical ventilation. We report a case of pneumocephalus resulting from high mechanical ventilation pressures in a patient without prior head trauma. A 37-year-old male with Duchenne's muscular dystrophy who had been ventilator-dependent through tracheostomy was admitted for shortness of breath and intermittent fevers. The patient was found to have pneumonia, with left-lower lobe consolidation, and was started on linezolid given known Methicillin-resistant Staphylococcus aureus from previous sputum culture; he was later switched to vancomycin and piperacillin-tazobactam given persistent fevers to cover for hospital-acquired pneumonia. The patient went into septic shock requiring multiple pressors as well as stress steroids for persistent shock, with eventual improvement in hemodynamics. He developed further respiratory acidosis on his usual ventilator settings, and peak inspiratory pressures (PIPs) progressively increased to as high as 45-70 cm H2O during his hospital course. PIPs did not improve with suctioning or after bronchoscopy. On the 17th day of the patient's stay, he had acutely altered mental status with non-reactive fixed and dilated pupils and disconjugate gaze of the right eye on neurologic examination. CT of the head at that time revealed extensive pneumocephalus along the bifrontal convexities, suprasellar cisterns, and posterior fossa, with a possible fracture of the frontal skull base near the ethmoid roof. Mount Fuji sign was present on CT scan, indicative of "tension pneumocephalus". Neurosurgical consultation was obtained but the family declined intervention given his overall debilitated stated. Comfort measures were instituted, and the patient expired the following day. Pneumocephalus is the accumulation of air entry into the cranial cavity, generally from head trauma, inflammation, or surgery. Patients may have underlying base skull defects or microfractures that permit air to enter the intracranial cavity. Increased sphenoid sinus pressure from mechanical ventilation may enter the subperiosteal space, allowing air to enter the intracranial cavity. It is important to consider pneumocephalus in a patient with new neurological findings after mechanical ventilation.

LA inhalers for COPD: perceptions/reality of ABCD GOLD tool use.

BACKGROUND: The Global Initiative for Chronic Obstructive Lung Disease (GOLD) created an ABCD tool to assess staging and severity of COPD subgroups that respond to LAMA or LABA with improved quality of life and reduced exacerbations. Our study assesses perception of physicians at five community hospitals towards LAMA use for patients admitted with COPD exacerbations according to the GOLD guidelines and describes the experience at our hospital. METHODS: Electronic survey forms regarding LAMA use and the GOLD criteria ABCD for COPD treating physicians were sent to five hospitals. A one-year chart review at our hospital determined prevalent use of a maintenance LAMA or LABA inhaler in patients admitted with acute COPD exacerbation. Currently, our EMR does not require a field for the GOLD ABCD categorization. RESULTS: We obtained a 33% (45/136) response rate. Of these, 63% felt a LAMA to be essential on formulary; 60% were neutral or unlikely to initiate LAMA on admission; 47.7% likely or very likely to start a LAMA during hospitalization; 82% were neutral to very likely to discharge a patient on a LAMA if deemed necessary for maintenance. Of those admitted for acute COPD exacerbations to our hospital, over a third of COPD patients were not on a maintenance LAMA or LABA. CONCLUSIONS: Most physicians felt it important to prescribe a maintenance LAMA to COPD patients hospitalized for acute exacerbation. Our hospital's use of LAMA or LABA demonstrates the need to incorporate strategies to encourage appropriate prescribing of these LA inhalers per GOLD guidelines.

Pleural fluid MYD88 L265P mutation supporting diagnosis and decision to treat extramedullary Waldenstrom's macroglobulinemia: a case report.

BACKGROUND: Our case of a patient with untreated lymphoplasmacytic lymphoma/Waldenstrom's macroglobulinemia with extramedullary pleural effusion is the first documented case of pleural fluid MYD88 L265P mutation status in a community hospital setting. Our patient was intolerant to 420 mg ibrutinib, but still achieved a lasting complete remission, as defined by National Comprehensive Cancer Network guidelines, with a dose reduction to 240 mg of ibrutinib. CASE PRESENTATION: A 72-year-old Caucasian (white) man diagnosed with monoclonal immunoglobin M kappa lymphoplasmacytic lymphoma/Waldenstrom's macroglobulinemia monitored without treatment for 2 years, presented with dyspnea and a left pleural effusion. At presentation, computed tomography scans of his chest, abdomen, and pelvis showed layering left pleural effusion and para-aortic lymphadenopathy. Pleural fluid cytology demonstrated B-cell lymphoma of the lymphoplasmacytic subtype, with monoclonal kappa B-cell population on flow and a positive MYD88 L265P mutation. The pleural effusion recurred post-thoracentesis and he achieved a lasting complete remission as defined by National Comprehensive Cancer Network guideline with 240 mg ibrutinib. CONCLUSIONS: Our discussion details a comprehensive literature review of extramedullary pulmonary involvement in Waldenstrom's macroglobulinemia. Establishing a malignant etiology for pleural effusion in Waldenstrom's macroglobulinemia can be challenging, as standard techniques may be insensitive. Allele-specific polymerase chain reaction for detecting MYD88 L265P mutations is more sensitive for confirming lymphoplasmacytic lymphoma/Waldenstrom's macroglobulinemia in pleural fluid. Extramedullary pulmonary involvement usually presents post-diagnosis of Waldenstrom's macroglobulinemia and responds well to Waldenstrom's macroglobulinemia-directed treatment regimens. Allele-specific polymerase chain reaction is a sensitive assay for detecting MYD88 L265P mutations in pleural fluid to support the diagnosis of malignant pleural effusion in the setting of Waldenstrom's macroglobulinemia and helps guide the treatment decision to use ibrutinib. Although intolerant of ibrutinib 420 mg, our patient achieved complete and sustained remission of pleural effusion with a dose of 240 mg with progression free survival of over 30 months.

Isolated central nervous system Aspergillosis infection in a chronic lymphocytic leukemia patient on Ibrutinib: A case report.

BACKGROUND: In patients at high risk of opportunistic infections who present with isolated. neurological symptoms, it is lifesaving to consider Central Nervous System Aspergillosis (CNS-A). Ibrutinib use in chronic lymphocytic leukemia (CLL) has previously been associated with CNS-A. We provide a case report of a patient that presented with primary CNS-A on Ibrutinib therapy without any prior pulmonary or local paranasal signs of infection. CASE PRESENTATION: 74-year-old Caucasian male with CLL and no prior chemotherapy on ibrutinib for 6 months presented with three months of unsteady gait, occipital headache, and confusion. He has a history of pulmonary sarcoidosis on chronic prednisone 5 mg daily and chronic obstructive pulmonary disease (COPD). He was found to have a "brain abscess" on imaging. Emergent craniotomy confirmed Aspergillus and patient was treated with Voriconazole for 6 months. At six-month follow up, repeat magnetic resonance imaging (MRI) confirmed complete resolution of CNS lesion. CONCLUSIONS: Our case reinforces the importance of being vigilant for isolated CNS-A in CLL patients on ibrutinib who present with neurological symptoms and signs, without prior or co-infection of sino-pulmonary tissue.

Effects of Length of Vasopressors Infusion on Mortality.

Background There has been a myriad of studies into the physiology of vasopressors and the survival benefit of vasopressor initiation in cases of septic shock. The aim of the Effects of Length of Vasopressors Infusion on Mortality (ELVI-Mortality) study is to observe a relationship between the length of vasopressor infusion and mortality in the intensive care unit. Methods This was a single-center, retrospective, matched-cohort study that collected data from Arrowhead Regional Medical Center's electronic medical records (EMR; MediTech, MA, US) using International Classification of Diseases, Tenth Revision (ICD-10) coding and a chart reviewing the past five years. Patients were on norepinephrine, phenylephrine, or epinephrine. Two patient groups were compared. The first group encompassed those with vasopressor infusion less than 48 hours in duration, whereas the second group included those with vasopressor infusion greater than 48 hours. Results A total of 193 patients were diagnosed as having septic shock. Participant data were obtained for 163 patients (84.4%). Of the 106 patients who had a vasopressor duration of less than 48 hours, 32 patients (30.2%) expired. Of the 57 patients that had more than 48 hours of vasopressor infusion, 18 patients (31.6%) expired. Conclusions There was no statistically significant increase in mortality in patients with vasopressor infusion greater than 48 hours as compared to less than 48 hours.

Peer review versus editorial review and their role in innovative science.

Peer review is a widely accepted instrument for raising the quality of science. Peer review limits the enormous unstructured influx of information and the sheer amount of dubious data, which in its absence would plunge science into chaos. In particular, peer review offers the benefit of eliminating papers that suffer from poor craftsmanship or methodological shortcomings, especially in the experimental sciences. However, we believe that peer review is not always appropriate for the evaluation of controversial hypothetical science. We argue that the process of peer review can be prone to bias towards ideas that affirm the prior convictions of reviewers and against innovation and radical new ideas. Innovative hypotheses are thus highly vulnerable to being "filtered out" or made to accord with conventional wisdom by the peer review process. Consequently, having introduced peer review, the Elsevier journal Medical Hypotheses may be unable to continue its tradition as a radical journal allowing discussion of improbable or unconventional ideas. Hence we conclude by asking the publisher to consider re-introducing the system of editorial review to Medical Hypotheses.

Rapid onset childhood cataracts leading to the diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

PURPOSE: To report a case of bilateral cataracts in a child that led to diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. DESIGN: Observational case report. METHODS: A 12-year-old boy was being investigated for weakness, lethargy, short stature, and blurred vision. He developed bilateral, dense cataracts over a 2-week period. He was found to be hypocalcemic and diagnosed with hypoparathyroidism and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. RESULTS: Because of hypoparathyroidism, adrenocortical failure, and insulin-dependent diabetes, it was 9 months before the patient's metabolic imbalance was brought under sufficient control to allow cataract surgery. CONCLUSIONS: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy should be considered with diagnoses of hypocalcemic cataract.