Forkhead box C1 gene variant causing glaucoma and small vessel angiopathy can mimic multiple sclerosis.

A 34-year old Caucasian female was initially diagnosed with multiple small-vessel strokes at age 20 years which were etiologically classified as secondary to anti-phospholipid antibody syndrome (APS) although she had no history or laboratory data to suggest APS. Based on her MRI of brain findings, one of her neurologists was concerned she could have multiple sclerosis (MS) and hence the patient was referred to our clinic for further evaluation. The patient's MRI of brain showed confluent lesions in the periventricular and juxta-cortical lesions that fulfil 2017 McDonald criteria for dissemination in space. She had no symptoms other than occasional, mild headaches and had no findings to suggest clinically isolated syndrome (CIS) or MS; additionally, her cerebrospinal fluid analysis was unremarkable. Past history showed that she had undergone surgery for glaucoma, and subsequently developed bilateral sensorineural hearing loss in the third decade that was diagnosed as Meniere's disease. Her family history revealed that her son had dysmorphic facies and was small for age. He had a bifid uvula, bilaterally duplicated thumbs and scoliosis. Additionally, he had hypertelorism, a wide forehead and flattening of mid-face. Due to his complex medical presentation, whole exome sequencing (WES) was performed that revealed a maternally inherited heterozygous pathogenic frameshift in the FOXC1 gene. Genotyping of the mother showed the FOXC1 gene variant and adds to the growing list of differential diagnoses that may mimic MS in the context of radiological changes involving cerebral small vessels. This is the first report of a FOXC1 gene variant presenting with radiological features that can erroneously be interpreted as being consistent with MS.

Breastfeeding and Growth of Children in the Peri/postnatal Epigenetic Twins Study (PETS): Theoretical Epigenetic Mechanisms.

BACKGROUND: The prevalence of overweight infants and toddlers has increased by 60% in the past 30 years and is a significant contributor to diabetes, cardiovascular disease, and early morbidity and mortality. The World Health Organization's updated meta-analysis in 2013 observed an association between breastfeeding and a lower prevalence of obesity later in life. The purpose of this study was to assess the growth of children in a cohort of Australian twins to examine associations between duration of breastfeeding and growth at 18 months of age. Our hypothesis is that the anthropometric measurements of the participants will be greater with shorter duration of breastfeeding. METHODS: Methods include using cross-sectional data from a cohort at the 18-month visit (n = 179) in the Peri/postnatal Epigenetics Twins Study (PETS) to assess the relationship between duration of breastfeeding and infant size at 18 months of age. Inclusion criteria were birth weight of more than 2000 grams and breastfed for less than 1 month, 1 to 3 months, or 4 to 6 months. RESULTS: The analysis suggested that infants breastfed for 1 to 3 months were significantly larger than infants breastfed for 4 to 6 months in terms of mean body mass index (BMI) (0.61 kg/m(2); P = .02; 95% confidence interval [CI], 0.17-1.05), arm circumference (0.66 cm; P = .006; 95% CI, 0.26-1.06), and abdominal circumference (1.16 cm; P = .03; 95% CI, 0.26-2.06). The analysis also suggested that infants breastfed for less than 1 month were significantly larger than infants breastfed for 4 to 6 months in terms of mean arm circumference (0.72 cm; P = .009; 95% CI, 0.26-1.17). CONCLUSION: Results suggest that supplementing with non-breast milk before 4 months of age was associated with an increased BMI, arm circumference, and abdominal circumference at 18 months of age. The mean BMI decreased from 85% to 65% when infants were breastfeeding for 4 to 6 months as compared to breastfeeding for 1 to 3 months. Breastfeeding for 4 to 6 months appeared to protect against the risk of obesity for the children in the PETS.