ABSTRACT
Adult onset still’s disease (AOSD) is a rare inflammatory disorder of unknown etiology. Because of lack of a defined diagnostic test the diagnosis of AOSD can only be made after excluding infectious, malignant, and autoimmune diseases. A 21-year-old female patient was admitted in our hospital with intermittent high-grade fever, polyarthritis and rash. On further history, examination and laboratory investigation she was found to be fulfilling all the Yamaguchi criteria for AOSD. All other causes consisting of acute or chronic infections, hematological malignancies, and other rheumatic disorders were excluded by laboratory investigations. Patient was treated as AOSD with non-steroidal anti-inflammatory drugs and steroids and is completely free of symptoms.
Subject(s)
Anti-Inflammatory Agents, Non-Steroidal/administration & dosage , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Female , Humans , Steroids/administration & dosage , Steroids/therapeutic use , Still's Disease, Adult-Onset/diagnosis , Still's Disease, Adult-Onset/drug therapy , Still's Disease, Adult-Onset/epidemiology , Still's Disease, Adult-Onset/etiology , Young AdultABSTRACT
The present study was done to study the role of Mean platelet volume in the pathogenesis,severity and outcome of ischemic stroke. The present prospective study comprised of 100 patients each of ischemic stroke with equal number of age and sex matched control group.Modified Rankin scale was used to assess the severity of stroke.Mean platelet volume and platelet count were lower and higher in the control group.PDW and PLCR were higher in the study group.57% stroke patients were independent at the end of first week.Patients with high Mean platelet volume did worse at the end of first week in comparison to the control group(p value=<0.05). Mean platelet volume bears an inverse relationship to the immediate outcome from ischemic stroke independent of stroke subtype.
ABSTRACT
Here, we report a case of tuberous sclerosis with mulberry lesion of retina and chorea. The mulberry lesion of retina is considered to be the characteristic retinal lesion of this neurocutaneous syndrome.However, presence of chorea in tuberous sclerosis is a rarity.
ABSTRACT
Galactosemia, an inborn neurometabolic disorder, results from an aberrant galactose metabolism due to the deficiency of serum galactose-1-phosphate uridyltransferase activity. It manifests in the central nervous system in the form of hypotonia, seizures, mental retardation, tremor, ataxia, and progressive cerebellar as well as extrapyramidal features. To the best of our knowledge, chorea due to galactosemia has not been reported in infancy.
Subject(s)
Child, Preschool , Chorea/complications , Consanguinity , Female , Galactosemias/complications , Galactosemias/physiopathology , Humans , Child, Preschool , Chorea/complications , Consanguinity , Female , Galactosemias/complications , Galactosemias/physiopathology , HumansABSTRACT
A 15-year-old male presented with history of progressive instability of gait for last 6 months. General examination revealed multiple subcutaneous nodules all over the body. There was a large pigmented naevus over the lower back area along with a subcutaneous bosselated swelling over right arm. Neurological examination revealed features of gait ataxia. Plantar reflexes were extensor on both sides. Skin biopsy from the pigmented naevus showed features of melanocytic naevus. Electrophysiological studies of both common peroneal and sural nerves revealed features of axonal neuropathy. With the above clinical and laboratory findings a diagnosis of neurofibromatosis type 1 accociated with bathing trunk naevus and Friedrich's ataxia was entertained.