Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

Biotinidase defciency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classifed as profound BD and partial BD. Further profound BD can be early onset, late onset, and sometimes may be asymptomatic. Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically afecting function of brain, eye, ear, and skin. Here, a frst-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging fndings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.

Clinical & radiological evaluation of atherosclerotic changes in carotid & coronary arteries in asymptomatic & clinically symptomatic individuals as a tool for pre-symptomatic diagnosis of cardiovascular disease.

Background & objectives: An increase in prevalence of atherosclerosis has been noted worldwide with reports of higher incidence of atherosclerotic vascular changes in Asian Indians. There is a need to measure vascular atherosclerotic changes and provide objective parameter to predict cardiac and cerebrovascular adverse events. Atherosclerotic changes in carotids and coronaries are generally accepted as an association. We attempted in this study to relate intimal-luminal changes in carotid arteries to luminal changes in coronary arteries. Our study presents results of high resolution ultra sonographic (HRUS) evaluation of intimal-medial-thickness (IMT) in carotid with luminal changes in coronaries on multidetector-CT (MDCT) in clinically asymptomatic and symptomatic individuals. Methods: In this prospective study, HRUS examination of the carotid bifurcation was performed in 151 individuals to measure IMT in asymptomatic and symptomatic groups. Assessments of coronary arteries of the same group of patients were evaluated by MDCT within a week interval. IMT changes were associated with age, sex, predisposing factors, calcium burden of coronaries and structural atherosclerotic changes in coronary arteries. Results: A linear association of IMT was observed with increasing age. IMT of 0.5-0.69 mm was noted in 50 per cent of patients between 51-56 yr with higher number of symptomatic patients in this group. Linear increases in coronary vascular changes were noted with increasing IMT thickness. Changes were more prevalent in diabetic, hypertensive, treadmill test (TMT) positive and clinically symptomatic patients. Interpretation & conclusions: Age-related progression of atherosclerosis was evident in internal carotid arteries. Significant association was observed in the IMT thickness of right common carotid (RCC) and coronary disease in symptomatic group; whereas IMT of left common carotid and internal carotid arteries did not show any association. RCC IMT between 0.5-0.7mm showed maximal association with significant symptomatic narrowing of coronary arteries. Patients with IMT beyond 0.7mm had no association with symptoms.

Preliminary reporting of emergency plain radiographic examination by the primary physicians in pediatric emergency center: feasibility study and observations

In a prospective study, preliminary reading of the plain radiographic films of pediatric emergency patients were compared with the reading of the same radiographs by the pediatric radiologists with the aim of evaluating the efficiency and accuracy of the initial reading by the treating physicians and to assess the effect on the overall patient management. Such readings may help those facilities where services of a qualified Pediatric radiologist are not immediately available. Our analysis indicates that in approximately 72% of patients, both reports are in agreement. However, there was a statistically significant difference in radiological observations in the patient group who had a discordant report [Kappa value=0.05]. Nevertheless, we did not come across any major discrepancy that needed altered management during the study period. Hence we conclude that under circumstances where expert help is not immediately available, primary physicians can be trained to read the plain radiographs without significantly affecting patient management

Evoluation of aortic aneurysm in a child with Ehlers-Danlos syndrome - case report

A 16-month-old child with clinical features of Ehlers-Danlos syndrome [EDS], presenting with a thoracic aneurysm is reported. Radiological appearance of the aneurysm, as well as sequential rupture into the pleural space, is demonstrated with special reference to spiral computed tomography in the evaluation of the lesion. The role of non-invasive imaging in this condition is emphasized. In view of the rarity of the disease, as well as development of thoracic aortic aneurysm at such an early age, relevant literature is reviewed

Evolution and sequelae of acquired lobar emphysema in a premature infant with chronic lung disease

The evolution of acquired lobar emphysema in a premature infant with chronic pulmonary disease was demonstrated by serial radiological examinations using multiple imaging methods including plain radiography, serial computed tomography and radionuclide studies. Long term clinical and radiological follow up is presented. The value of computed tomography in the evaluation of the patient is emphasized. The literature on the patho-physiological mechanism of the disease is reviewed