Exstrophy Of Cloaca Sequence (OEIS Complex) With Multiple Cardiac Malformations

Omphalocele, Exstrophy, Imperforate anus, Spinal defects (OEIS) complex is the most severe birth defect within the exstrophy-epispadias complex. There is exstrophy of the cloaca, failure of fusion of the genital tubercles and pubic rami, omphalocele and incomplete development of the lumbosacral vertebrae with hydromyelia. The diagnosis of OEIS complex mainly relies on sonographic findings. Our case presented with microcephaly, omphalocele, syndactyly, hydromyelia, imperforate anus, single cloacal opening, bifid clitoris, prominent unfused pubic rami and left renal agenesis. In addition, multiple severe cardiac malformations were found on echocardiography. Prognosis is poor when the OEIS complex is compounded by life-threatening malformations. We report a rare case of a preterm neonate presenting with features of OEIS complex with multiple cardiac malformations

Bohring Opitz Syndrome: A Case Of A Rare Genetic Disorder

Bohring-Opitz syndrome (BOS) is a rare genetic disorder, characterized by feeding difficulties, developmental delay, microcephaly, micrognathia, limb anomalies, and typical phenotypic facial features. The cause of the syndrome is identified as de novoheterogeneous mutations in the ASXL1 gene, but other mutations have been described in some patients. Most patients die in early childhood due to infections and comorbidities. As molecular confirmation by genetic studies is not always possible, this syndrome is diagnosed on the basis of distinctive clinical features. We report a case of the 6-month-old male child having gastroesophageal reflux and physical features of microcephaly, sloping forehead, sparse hair, craniosynostosis, telecanthus, hypertelorism, prominent eyes, posteriorly rotated ears, high-arched palate, micrognathia, pes planus, and typical BOS posture. A multidisciplinary approach is required for managing these patients.

Consensus Guidelines on Management of Childhood Convulsive Status Epilepticus.

Justification: Status epilepticus has a wide etiological spectrum, and significant morbidity and mortality. Management using a pre-determined uniform protocol leads to better outcomes. Multiple protocols for management of childhood status epilepticus are available, without much consensus. Process: A ‘Multi-disciplinary Consensus Development Workshop on Management of Status Epilepticus in Children in India’ was organized. The invited experts included Pediatricians, Pediatric neurologists, Neurologists, Epileptologists, and Pediatric intensive care specialists from India, with experience in the relevant field. Experts had previously been divided into focus groups and had interacted on telephone and e-mail regarding their group recommendations, and developed consensus on the topic. During the meeting, each group presented their recommendations, which were deliberated upon by the house and a consensus was reached on various issues; the document was finalized after incorporating suggestions of experts on the draft document. Objective: To provide consensus guidelines on evaluation and management of convulsive status epilepticus in children in India (excluding neonatal and super-refractory status epilepticus). Recommendations: Each institution should use a predetermined protocol for management of status epilepticus; prehospital management and early stabilization is the key to a satisfactory outcome of status epilepticus. Pharmacotherapy should not be delayed for any investigations; the initial management should consist of a parenteral benzodiazepine by any route feasible. Subsequent management has been detailed. The group also felt the need for more epidemiological research on status epilepticus from India, and identified certain research areas for the purpose.