The Cockayne Syndrome is a rare syndrome of congenital originwhich is charcterized by growth retardation, facial dysmorphism, facial naevi,retinopathy and mental retardation, which are associated with the changes in the brain parenchyma. The findings of MRI of the brain support the clinical diagnosis of the Cockayne Syndrome. We would like to highlight the MRI findings of this rare syndrome. praveen mundaganurCASe RepoRT
Postpartum ovarian vein thrombosis (POVT) is an uncommon but serious complication. Clinically it is a difficultly diagnosed entity, must be thought of as differential diagnosis in cases of postpartum acute abdomen. POVT may cause serious complications like sepsis, pulmonary embolism, thrombosis of the inferior vena cava and renal veins, and may cause death. It is often clinically indistinguishable from other causes of post partum acute pain. Most of the cases present as right loin and right iliac fossa pain, within initial 10 days of the puerperal period. This report presents a case of left ovarian vein thrombosis complicated by renal vein thrombosis presenting as left ureteric colic. The imaging findings illustrate the difficulty in clinical and radiological diagnosis of post-partum ovarian vein thrombosis, and thus highlight the need to include it as one of the differential diagnosis in such cases of post partum acute abdomen. Anti-coagulants and intravenous antibiotics remain the mainstay of treatment. Non-invasive investigations help in accurate diagnosis of POVT and a surgery can be avoided.
A newborn boy was referred for evaluation of neonatal seizures. He was born at term, to a 29 year-old g2p1 mother after an uneventful pregnancy. Both parents were healthy and unrelated. The family history was non-contributory. His condition at birth was good: apgar scores being 9/10 and 10/10 at 1 and 5 minutes respectively. He weighed 2.7 Kg at birth and the occipitofrontal circumference measured 33 cm (10th -25th percentile). On the second day of life, he was noted to have several episodes of twitching of the face and jerky movements of both upper limbs. He was thus referred for further management.On admission to our institution, no dysmorphic features were noted and the rest of the physical examination including the neurological examination and fundoscopy did not reveal any abnormality. The complete blood count, haemogram and serum electrolyte levels were normal, random blood glucose was 3.8 Mmol/l. Results of cerebrospinal fluid analysis was normal. CSF and blood cultures were sterile. Titres of serum antibodies to toxoplasma, CMV, herpes and rubella were not elevated. EEG showed frequent sharp waves and spikes of high voltages over the frontal and temporal regions bilaterally.Subsequently CT scan of the brain revealed dilatation of both lateral ventricles and suprasellar cisterns with agenesis of the brain stem and cerebellum. The brain surface was relatively smooth suggestive of deficiency in sulci and gyri. A diagnosis of cerebrocerebellar lissencephaly was made. Chromosome study was a 46xy karyotype.Phenobarbitone (5mg/kgl day) as a single dose was commenced and fits were under control. He was discharged on day ten of life. His neurodevelopment was markedly delayed and his seizures recurred but these were controlled by increasing the dose of the anticonvulsant.
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