Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.
Significant advances in the neonatal ICU have improved the survival of extreme premature neonates; with this comes the importance of intact survival. Periventricular leukomalacia (PVL) is the commonest white matter brain injury in preterm infants. It has a typical distribution at the watershed areas adjacent to the lateral ventricles. PVL occurs because of ischemic injury to periventricular oligodendrocytes of the developing brain. It can be detected by cranial ultrasonography (CUS) as initial periventricular echodensities, followed later by cystic formation. Recent magnetic resonance imaging studies have shown that it helps in early visualization of PVL and also detection of non-cystic form of PVL, which is not picked up by CUS. It is the commonest cause of cerebral palsy, intellectual impairment or visual disturbances. Currently, no medical treatment is available for PVL; prevention and close developmental follow-up are the only options.
Waardenburg syndrome (WS) is an inherited autosomal dominant disorder characterized by varying degrees of hearing loss and pigmentary anomalies affecting the eye, hair, skin. It is a rare syndrome affecting about 1 in 42,000 individuals. We herein report a case of WS type I in an 8 day old neonate, which to the best knowledge of the authors is the youngest reported case in literature.
Key Words: Waardenburg syndrome, white forelock, sensorineural deafness, Piebaldism
Chest radiograph showed homogenous opacity in left hemithorax, a hyperinflated right lung, trachea was deviated towards the left side and parahilar haziness with mediastinal shift to the left (Figure 1). Two-dimensional echocardiography with colour Doppler showed a normal heart displaced more towards the left side, with a patent ductus arteriosus with flow from aorta to pulmonary artery and non-visualisation of left pulmonary artery. Based on clinical, radiographic and echocardiographic findings, a provisional diagnosis of complete obstruction of left main bronchus with collapse/consolidation of the left lung was made. A possibility of persisting ductus arterious with left to right shunt, an enlarged pulmonary artery with cardiomegaly leading to compression of the left main bronchus was thought of.Bronchoscopy showed non-visualisation of the left main bronchus. High resolution computed tomography (HRCT) thorax (Figure 2) showed a homogenous opacity involving left hemithorax which was totally unaerated, along with mediastinal shift to left, non-visualisation of left main stem bronchus and non-homogeneous infiltrates in peribronchial region on right side, suggestive of agenesis of left lung with right sided compensatory emphysema and bronchopneumonia.
Granulosa cell tumor is a sex cord-stromal tumor of the ovary derived from non-germ elements. These lesions occur most frequently in menopausal or postmenopausal women and its association with endometrial carcinoma is seen only in less than 5% of these cases. We herein report a rare case of adult type granulosa cell tumor of the ovary with coexistent endometrial adenocarcinoma in a 35 year old, married Indian female
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