Antenatal diagnosis of alobar holoprosencephaly

Holoprosencephaly (HPE), a congenital induction disorder, occurs due to failed segmentation of neural tube and subsequent incomplete separation of the prosencephalon. Because of the defect in the ventral induction, HPE is also associated with multiple facial abnormalities. Mortality correlates with the severity of brain malformation and facial phenotype. Frequent causes of death include respiratory infections, dehydration due to uncontrolled diabetes insipidus, intractable seizures, and brainstem malfunction. This is a case of Alobar holoprosencephaly in the fetus of a 31-year-old G2P1 female, detected on level II obstetric ultrasound at 17 weeks of gestation. The objective of this case report is to discuss the etiology, pathogenesis, prenatal sonographic findings, management and prognosis of HPE which can aid in its early antenatal diagnosis and can help formulate an adequate plan for the parents and fetus.

Antenatal diagnosis of omphalocele and spinal dysraphism: a possible OEIS complex

OEIS complex, which comprises of omphalocele, exstrophy bladder, imperforate anus and spinal dysraphism, is a rare disorder. The prognosis depends upon the severity of the structural defects. Survival depends on the extension of the cloacal exstrophy and the neural tube defect. The antenatal diagnosis in early pregnancy is very tough, and a high level of suspicion should be kept for the possibility of its existence, even only if omphalocele and spinal dysraphism are seen on a prenatal sonography. Authors present the case of a 33-year-old, G1P0 female, who on her prenatal routine sonography scan, was found to have a fetus with omphalocele and spinal dysraphism. Despite the repeated attempts to follow her up, she refused and hence the possibility of the presence of other associated malformations could not be ascertained. Considering the difficulty of antenatal diagnosis of OEIS complex and its associated mortality, the objective of this case report is to discuss the vital sonographic findings of OEIS, along with its etiology and prognosis, which can aid in its early detection and subsequently help parents to make a decision regarding the continuation of pregnancy.

Seizures in a child with tuberculomas: case report

Central tuberculomas, occurring because of the haematogenous spread of' M. tuberculosis, can present variably with the symptoms ranging from headache, decreased level of consciousness, neck stiffness to altered mental status, seizures and focal deficits. Diagnostic investigations include but are not limited to CSF analysis, MRI Brain, CT head, and AFB smear, mycobacterial cultures or CBNAAT of the CSF sample. Magnetic resonance spectroscopy can help distinguishing the tuberculoma from its differentials by showing a peculiar lipid peak. Treatment with the antituberculosis drugs over a prolonged period of time along with dexamethasone usually shows significant clinical improvement. Authors present to you the case report of an 8 year old boy who presented to the pediatric emergency with generalized tonic clonic seizures and was subsequently detected with the tuberculoma with the help of MRI Brain and CBNAAT (cartridge based nucleic acid amplification test) of CSF sample. The objective of this case report is to discuss the symptoms, pathogenesis, detection and management of tuberculomas, which are still quite common in the developing countries and if left untreated are associated with high morbidity and mortality.

Necrotizing enterocolitis: a case report

Nectrotizing enterocilitis(NEC), a disease predominant in the premature formula fed infants, is a major cause of morbidity and mortality in NICU survivors. The symptoms may vary from apnea, fever, lethargy to abdominal distension, bloody stools, poor feeding and vomiting. The mainstay of treatment is the IV feeds, discontinuation of oral feeds, nasogastric (NG) decompression, possible breathing support and surgery. The objective of this case report is to discuss the presentation, treatment, prognosis and proposed preventative measures of NEC, which can help raise awareness and henceforth improve the management and subsequent prognosis of this disease. Authors present to you the case report of a VLBW (Very Low Birth Weight) premature infant with NEC.