To cite: Sharma C, Nath K, Acharya M, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014205232 DESCRIPTION We present the case of a 25-year-old man who had progressive generalised choreoathetosis, orofacial dyskinesia, feeding dystonia ( jaw closure dystonia), lip biting and cervical dystonia (retrocollis) for the past 2 years. Over the past 6 months he h...

The rare McLeod blood group phenotype is characterized by weak Kell antigens, lack of the common Kx antigen, and acanthocytic morphology. Previous studies that did not detect membrane or cytoskeletal protein abnormalities suggested a lipid disturbance. In normal red cells, dimyristoyl phosphatidylserine (DMPS) is transported across the membrane by an enzymatic process and accumulates in the inn...

small-sized hyaline casts, Ͻ4 in each slide; hyaline with medium or large diameter, cellular, granular, granulo-hematic, waxy casts, none; cystine crystals, none; other crystals, rare (Ͻ10 in each slide). We usually notice a high prevalence of pathologic findings (ϳ70%) in microscopic analysis of urine samples from our patients. Applying the published algorithm, we estimated that only 93 sample...

Chronic anemia is common in liver cirrhosis. In this setting, the pathogenesis of anemia is complex and multifactorial. Spur cell anemia is a serious disorder in cirrhotic patients and is associated with poor prognosis. Liver transplantation constitutes the only therapeutic tool. We report a case with severe spur cell anemia in alcoholic liver cirrhosis. In the attempt to investigate the origin...

Trace element copper is involved in myriad of physiological activities vital for normal function organs animals and humans from fetal development onwards. Its deficiency might occur infants, children as well adults has been reported a global problem affecting developed undeveloped countries. Copper essential efficient iron uptake mobilization. The present study evaluates the effect dietary on e...

Lyn is involved in erythropoietin (Epo)-receptor signaling and erythroid homeostasis. Downstream pathways influenced following Lyn activation and their significance to erythropoiesis remain unclear. To address this, we assessed a gain-of-function Lyn mutation (Lyn(up/up)) on erythropoiesis and Epo receptor signaling. Adult Lyn(up/up) mice were anemic, with dysmorphic red cells (spherocyte-like,...

Rats developed anemia during treatment with high doses of malotilate, a hepatotropic agent. A repeated dose of 1,000 mg/kg caused a 20-30% decrease in the number of red blood cells and in hematocrit and hemoglobin values within the first week. In response to the anemia, the reticulocyte count increased, and target cells, acanthocytes and Howell-Jolly bodies appeared in the peripheral blood. In ...

The term "neuroacanthocytosis" describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms...

Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainly affect the basal ganglia and are associated with similar neurological symptoms. PKAN is also assigned to a group of rare neurodegenerative diseas...

BACKGROUND Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN). China has the largest population in the world, which makes it a good location f...