BackgroundNeonatal diabetes is a rare form of monogenic diabetes with onset in the first six months of life occurring in 1/100,000 to 1/400,000 births. Both permanent and transient forms have been described. Permanent neonatal diabetes results predominantly from mutations in the KCNJ11 and ABCC8 genes. Less frequently, mutations of the GATA6 gene, located on chromosome 18 cause a form of permanent neonatal diabetes resulting from pancreatic hypoplasia or agenesis. Other anomalies associated with mutations of this gene have also been reported, most commonly congenital heart disease.Case presentationWe report the case of a Caucasian male infant diagnosed shortly after birth with neonatal diabetes, truncus arteriosus type III, ventricular septal defect, atrial septal defect, an absent gallbladder and a right inguinal hernia. His diabetes resulted from a de novo mutation of the GATA6 gene resulting in pancreatic hypoplasia. At 20 months of age he developed protein losing enteropathy. This has not previously been associated with GATA6 mutations and it is not known if this association is causal.ConclusionThe combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality. The association of protein losing enteropathy is unique to the reported case.
Hydroxychloroquine (HCQ)-induced hyperpigmentation is uncommon but is increasingly recognized. To our knowledge, HCQ-induced hyperpigmentation has not been reported in the pediatric age group. Herein, we present the case of a 14-year-old girl with systemic lupus erythematosus, who developed hyperpigmentation on her shins and dorsum of the left foot, approximately 3 years after initiating treatment with HCQ. Physicians who treat children with HCQ for reasons such as rheumatologic disorders, dermatologic disorders and, more recently, coronavirus disease-19 should be aware of this less-known side effect of HCQ.
Introduction: Unresectable and metastatic small cell carcinoma of the prostate (SCPC) is a rare and aggressive disease that is under-represented in clinical trials. We carried out a retrospective chart review of metastatic or unresectable SCPC patients at British Columbia (BC) Cancer centers, studying diagnosis and treatment patterns.
Methods: Drug dispensing records from the six BC Cancer centers were obtained from 2002–2017. For each patient, information was collected on baseline information prior to therapy, and for each line of treatment. Treatments at each line were compared regarding time to progression and overall survival by Kaplan-Meier curves.
Results: Forty-one patients received treatment; 65.6% had metastatic disease and 61% had pure small cell carcinoma. Median time from treatment to death was 10 months (95% confidence interval [CI] 6–16). Patients with initially prostate-confined disease had a better median overall survival (mOS) of 21 months (95% CI 13–34) compared to those with initially locally advanced (mOS 19 months, 95% CI 5–37) and metastatic disease (mOS 8 months, 95% CI 6–10) (log-rank p=0.0364). All patients received either cisplatin- or carboplatin-based combination chemotherapy as the first-line treatment and 36.7% received second-line therapy. Time to second-line therapy was eight months for those who presented with metastatic SCPC, compared to 13 months for those with initial non-metastatic SCPC.
Conclusions: This single-province, multi-institution cohort reports data on unresectable and metastatic SCPC and highlights the poor prognosis of this rare disease entity.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.