Microcephaly is a fairly common feature observed in children with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. It may be the result of an acquired insult to the brain, such prenatal or perinatal brain injury (congenital infection or hypoxic ischemic encephalopathy), or be a part of a genetic syndrome. There are over 1000 conditions listed in OMIM (Online Mendelian Inheritance in Man) where microcephaly is a key finding; many of these are associated with specific somatic features and non-CNS anomalies. The term primary microcephaly is used when microcephaly and delayed development are the primary features, and they are not part of another recognized syndrome.In this case report, we present the clinical features of siblings (brother and sister) with primary microcephaly and delayed development, and subtle dysmorphic features. Both children had brain MRI studies that showed periventricular and subcortical T2/FLAIR hyperintensities, without signs of white matter volume loss, and no parenchymal calcifications by CT scan. The family was enrolled in a research study for whole exome sequencing of probands and parents. Analysis of variants determined that the children were compound heterozygotes for nonsense mutations, c.277C>T (p.Arg93*) and c.397C>T (p.Arg133*), in the TRMT10A gene. Mutations in this gene have only recently been reported in children with microcephaly and early onset diabetes mellitus.Our report adds to current knowledge of TRMT10A related neurodevelopmental disorders and demonstrates imaging findings suggestive of delayed or abnormal myelination of the white matter in this disorder. Accurate diagnosis through genomic testing, as in the children described here, allows for early detection and management of medical complications, such as diabetes mellitus.

Background:The prevalence of oral disease during pregnancy affects the health of the fetus and mother. The interdisciplinary protocol between general dentists (GDs), gynecologists, and general medical practitioners (GMPs) is proved to reduce the incidence of maternal and neonatal complications.Aim:The aim of the present survey is to assess the knowledge, awareness, and attitude of practicing gynecologists, GMPs, and GDs regarding the association of periodontitis and adverse pregnancy outcomes.Materials and Methods:This cross-sectional study was conducted among 150 health-care professionals in Madurai. A well-structured pretested questionnaire consisted of 12 questions which were used to assess the awareness of association regarding maintaining oral health during pregnancy among GMPs, GDs, and gynecologists. The knowledge, awareness, and practice scores were calculated for the correct answers to the questions. A software program (SPSS 12) was used for statistical analysis.Results:The mean age of participants was of 33.14 ± 1.5, 32.58 ± 2.80, and 37.7 ± 9.7, respectively. Majority of the participants agreed the importance of dental examination and maintaining oral health during pregnancy GMPs (96%), GDs (100%), and gynecologists (92%). About 92% of gynecologists and GMPs supported that providing dental treatment during pregnancy improved pregnancy outcomes. About 64%, 76%, and 68% of GMPs, GDs, and gynecologists, respectively, confirmed the association between periodontal disease and adverse pregnancy outcomes.Conclusion:In this study, knowledge and awareness of gynecologists and GMPs are appreciable; however, their attitude toward bringing the facts into clinical practice needs to be improved through integrated programs.

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IntroductionCarcinoid tumors are neuroendocrine neoplasms derived from the enterochromaffin cells. Central nervous system involvement is rare and has been reported either as metastases to the brain and spine or primary tumors involving the sacrococcygeal spine. We report the first case of a primary carcinoid tumor of the cervical spine.Case presentationA 50-year-old African-American woman presented with a 4-month history of numbness, paresthesias, and mild left-hand weakness. Magnetic resonance imaging of her cervical spine revealed a homogenously enhancing extradural mass, indenting the cervical cord and expanding the left neural foramen at C7–T1. A C7 corpectomy, en bloc resection of the tumor, and anterior C6–T1 fusion were performed to decompress the spinal cord and nerves and provide stability. Postoperative histopathologic examination and immunohistochemical analysis were consistent with carcinoid tumor. There has been no recurrence at the 6-year follow-up visit.ConclusionsPrimary cervical carcinoid tumor is extremely rare, but should be included in the differential diagnosis of enhancing expansile extradural masses compressing the spinal cord and nerves. Surgical resection may provide a definitive cure.