Cephalothoracopagus: A rare conjoined twins, pre and postnatal findings.

Being unique is good, but not so for conjoined twins. Cephalothoracopagus is a rare type of conjoined twins, which is a rare monozygotic twinning resulting in imperfect fusion of the head, chest and upper abdomen. These twins have separated limbs and pelvis. The incidence of conjoined twins is 1 per 50,000 to 1 per 200,000 births. The cephalothoracopagus however is very rare variant seen in 1 in 3 million births. In literature approximately 200 cases have been reported till now. The cephalothoracopagus janiceps has two types: disymmetros and asymmetros. We present a case of cephalothoracopagus janiceps disymmetros in a 22-year-old gravida at 19 weeks gestation.

Trigeminal neuralgia: When does neurovascular contact turn into a conflict?

BACKGROUND: The most common cause for trigeminal neuralgia is contact of the trigeminal nerve with an offending vessel which is also observed routinely in many asymptomatic patients. Therefore, the aim of this study was to determine when an asymptomatic Neuro Vascular Contact (NVC) turned into a neurovascular conflict and made the patient symptomatic. METHODS: All patients who underwent Magnetic Resonance Imaging (MRI) brain with clinical diagnosis of trigeminal neuralgia formed the study group and all cases of sensorineural hearing loss formed the control group. RESULTS: Out of 51 cases of trigeminal neuralgia 27 were males and 24 were females. The neurovascular contact was seen in 41 (80.4%) cases and 17 (28.3%) controls. Change in caliber of trigeminal nerve was seen in 27 (52.9%) cases and only in 01 (1.66%) control. Arterial imprint on nerve was seen in 26 (50.9%) cases and 01 (1.66%) control. Distortion of the course of nerve was seen in 12 (23.5%) cases and 01 (1.66%) control. Superior cerebellar artery was commonest vessel seen in contact with nerve on affected side in 25 (61%) cases. CONCLUSION: Demonstrating neurovascular contact alone is not enough for diagnosis of conflict as it is also present in some asymptomatic individuals, therefore it is important to identify thinning of nerve, arterial imprint or grooving and distortion in course of nerve, as these are more reliable signs of a conflict between the vessel and the nerve, and these cases are best treated surgically by Micro Vascular Decompression (MVD).

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern. Several mutations have been described in the implicated genes but there are no reports on mutations seen in patients from India. CASE PRESENTATION: We report a 1½ year old girl, only child of a non-consanguinous couple who presented with delayed developmental milestones and delayed dentition. On physical examination she had downward slanting palpebral fissures, low set ears, smooth philtrum, hypodontia, prominent body hair and clitoromegaly. There was prominent horizontal nystagmus, hypertonia of both upper and lower limbs, exaggerated deep tendon jerks and flexor planter response. She had not attained complete head control and required support to sit. She showed absent waves on brainstem evoked response audiometry and her fundus examination showed bilateral optic atrophy with prolongation of P100 latencies on visual evoked potentials. MRI Brain showed hyperintensity of entire white matter with involvement of the internal and external capsule, frontal deep white matter and corpus callosum. Her karyotype was 46 XX and her endocrinal profile was unremarkable. Clinical exome sequencing identified an unreported mutation in the POLR3A gene. The same mutation was identified by Sanger sequencing in heterozygous state in both parents. The child is being managed with physiotherapy and developmental therapy. She has been provided with hearing aids and started on speech therapy. Parents were provided anticipatory guidance and genetic counselling about autosomal recessive nature of inheritance, risk of recurrence and need for follow-up. CONCLUSION: 4H syndrome is a rare congenital hypomyelinating leukodystrophy inherited as an autosomal recessive disorder due to mutations in the POLR3A and POLR3B gene. Delay or regression of milestones, abnormalities in dentition and endocrinal perturbations are its hallmark. A novel mutation in the POLR3A gene resulting in amino acid substitution of arginine for glutamine at codon 808 (p.R808Q) was detected in exon 18 in our case.

Early versus Late Enteral Feeding in Preterm Intrauterine Growth Restricted Neonates with Antenatal Doppler Abnormalities: An Open-Label Randomized Trial.

Background of the study: Enteral feeding in preterm neonates with intrauterine growth restriction (IUGR) and absent or reversed end diastolic flow (AREDF) on umbilical artery (UA) Doppler is delayed owing to an increased risk of necrotizing enterocolitis (NEC). Delaying enteral feeding with longer duration of parenteral nutrition (PN) carries an increased risk of sepsis. Objectives: To study early versus late feeding in preterm IUGR neonates for time required to attain sufficient feed volume to discontinue PN and increased risk of NEC or feed intolerance (FI). Design: Open-label randomized controlled trial. Setting: Tertiary care neonatal unit and fetal-maternal medicine unit in India. Participants: Preterm intrauterine growth restricted neonates' ≤32 weeks with AREDF on UA Doppler enrolled from 1 January 2014 to 31 July 2015. Intervention: Randomized to receive early or late feeding using mothers own or donor breast milk as per a feed initiation and advancement protocol. Primary outcome: Time in days required to attain sufficient feed volume allowing discontinuation of PN and incidence of NEC in neonates fed early versus late. Results: There were 77 eligible neonates. Sixty-two neonates were included and stratified as extreme preterm (27-29 weeks) (n = 20) and very preterm (30-32 weeks) (n = 42). Ten extreme preterm and 21 very preterm neonates were randomized to each early feeding and late feeding arm. There was a significantly faster attainment of sufficient feeds in the early feeding arm of both the stratified groups [extreme preterm: median 14 days (Interquartile range IQR: 12-15) compared with 18 days (IQR: 18-20), hazard ratio (HR): 1.59, 95% CI: 0.626-4.078; very preterm: 12 days (IQR: 10-14) as compared with 16 days (IQR 15-17), HR: 1.89, 95% CI: 1.011-3.555]. There was no difference in the incidence of NEC, FI and combined outcome of NEC and FI. Conclusion: Early feeding in preterm IUGR neonates with AREDF on antenatal UA Doppler allowed earlier discontinuation of PN, allowing birth weight to be regained earlier and did not increase the incidence of NEC and FI.

Revisiting anatomical variants on screening chest radiographs in Indian adolescents: A cross sectional observational pilot study.

BACKGROUND: Knowledge of normal variation and measurements on a chest radiograph is essential to interpret any abnormality. There is paucity of information about normal measurement ranges and variations in young adolescents, particularly from Indian subcontinent. The aim of this study was to analyze certain normal variations on screening chest radiographs of healthy Indian adolescents and the objectives were to measure/assess (1) degree of inspiration, (2) cardiothoracic ratio (CTR), (3) presence of gastric fundic bubble, (4) fundocupolic distance, (5) presence of splenic flexure, (6) difference in height of diaphragmatic domes and (7) effect of inspiration on the CTR. METHODS: Digital chest radiographs obtained during routine medical examinations for all consecutive medical graduate aspirants in the year 2016 at a medical college, were analyzed for the above mentioned parameters using DICOM viewing software. RESULT: A total of 558 chest radiographs were analyzed. The mean age of the subjects was 18.50 (SD = 1.002) (range: 17-22 years). There were 497 (89.1%) male and 61 (10.9%) female. Degree of inspiration was at 5th, 6th, 7th and 8th ribs in 29 (5.1%), 259 (46.4%), 264 (47.3%) and 6 (1%) respectively. Mean maximum transverse cardiac diameter, internal thoracic diameter, CTR were 1153.22 ± 120.01, 2935.24 ± 224.86 and 0.39 ± 0.03 respectively. Females had slightly higher CTR (0.40 ± 0.035) as compared to the males (0.39 ± 0.032) (p = 0.009). Gastric fundic bubble was visualized in 91% subjects. Mean fundo-cupolic distance was 8.75 ± 8.00. Mean value for difference in the level of two domes of diaphragm was 15.28 ± 5.38. CONCLUSION: The study highlights normal range of inspiration, CT ratio, fundocupolic distance and diaphragmatic dome level difference on screening chest radiographs in healthy Indian adolescents.

Combat radiology: Challenges and opportunities.

Radiology services in a combat situation are essentially centred on assisting the battle field physicians/surgeons to save/salvage life and limb. Timely and accurate detection of type and mapping of extent of injury can aid in making imaging based triage which can be of immense help to the treating physicians/trauma surgeons. With the availability of rapid assessment (clinical as well as imaging based) and quick transport facility, the focus has gradually been shifting from merely limb-saving to life-saving strategies. Providing the right imaging modality at the right time for the right patient at the right place is the need of the hour and will dictate the success of combat casualty care. Although there are limitations in terms of terrain and hostility in a combat scenario, newer developments in the field of Radiodiagnosis and imaging can be optimally utilized for better casualty care services. Point of care Digital/Computed Radiography and basic Ultrasonography for trauma complemented by usage of multidetector computed tomography will go a long way in helping timely and accurate management of victims of blast and ballistic injury in a combat scenario. Following a rigid, easy to understand yet comprehensive protocol and radiology reporting system will be invaluable in the combat scenario despite various limitations.

Segmentation and grading of brain tumors on apparent diffusion coefficient images using self-organizing maps.

An accurate computer-assisted method to perform segmentation of brain tumor on apparent diffusion coefficient (ADC) images and evaluate its grade (malignancy state) has been designed using a mixture of unsupervised artificial neural networks (ANN) and hierarchical multiresolution wavelet. Firstly, the ADC images are decomposed by multiresolution wavelets, which are subsequently selectively reconstructed to form wavelet filtered images. These wavelet filtered images along with FLAIR and T2 weighted images have been utilized as the features to unsupervised neural network - self organizing maps (SOM) - to segment the tumor, edema, necrosis, CSF and normal tissue and grade the malignant state of the tumor. A novel segmentation algorithm based on the number of hits experienced by Best Matching Units (BMU) on SOM maps is proposed. The results shows that the SOM performs well in differentiating the tumor, edema, necrosis, CSF and normal tissue pattern vectors on ADC images. Using the trained SOM and proposed segmentation algorithm, we are able to identify high or low grade tumor, edema, necrosis, CSF and normal tissue. The results are validated against manually segmented images and sensitivity and the specificity are observed to be 0.86 and 0.93, respectively.

Assessment of cochlear nerve deficiency and its effect on normal maturation of auditory tract by diffusion kurtosis imaging and diffusion tensor imaging: A correlational approach.

OBJECTIVE: The use of diffusion kurtosis imaging (DKI) and diffusion tensor imaging (DTI) was evaluated in assessing cochlear nerve deficiency (CND) and its effect on normal maturation of auditory tract. METHODS: 25 CND patients and 25 controls (age matched: 2months to 17years, gender matched) were evaluated by mean kurtosis (MK), axial kurtosis, and radial kurtosis and compared against fractional anisotropy (FA), axial and radial diffusivities in internal auditory canal (IAC), lateral lemniscus (LL) and inferior colliculus (IC). The age related changes of auditory tract were studied through Pearson correlation between estimated indices and age of both CND and control populations. RESULTS: Significant loss of MK (IAC: 10.71%, IC: 10.87%, LL: 15.63%) was observed in CND cases as against moderate reduction in FA (IAC: 8.57%, IC: 10%, LL: 7.69%) in all three anatomical locations. Similarly, substantial decline is observed in radial kurtosis (IAC: 27.03%, IC: 33.33%, LL: 31.43%) in comparison to moderate increase in radial diffusivity (IAC: 13.46%, IC: 24.39%, LL: 24%) in CND cases. No statistically significant change was seen in both axial kurtosis and diffusivities. In control populations, MK (r=0.473, p=0.011) and radial kurtosis (r=0.418, p=0.016) correlate positively with age and had no correlation in case of CND cases. FA (r=0.356, p=0.019) minimally correlated with age in control population but showed no statistically significant correlation in CND cases (r=0.198, p=0.036). CONCLUSION: DKI metrics performed better than DTI in assessing microstructural changes of CND. In particular, MK and radial kurtosis are found to be more sensitive enough to differentiate the normal maturation of cochlear nerve from CND cases.

Cardiac MRI in Congenital Heart Disease - Our Experience.

A significant recent advance that has occurred world over in the continuously evolving field of Magnetic Resonance Imaging (MRI) practice is the introduction of Cardiac applications. Cardiac MRI has moved to the centre stage of clinical management strategy by non-invasively imaging the structure as well as function of the heart. It has a wide range of specific applications such as delineation of morphological anatomy, quantification of flow and pressure across cardiac valve dysfunction, evaluation of myocardial function, assessment of infarcts, mapping coronary arteries and so on. Evaluation of congenital heart disease (CHD) is an important application of Cardiac MRI since the morphological details of chambers, septum, defects and anomalous connections are depicted accurately. Besides, flow information across valves, chambers, outflow tracts and shunts are also provided. This article describes our experience in the use of cardiac MRI in congenital heart disease.