This report describes a case of hyper-reactive malarial splenomegaly in a patient with a thalassaemia syndrome. Increased haemoglobin A2 is valuable for the diagnosis of common forms of β-thalassemia, while haemoglobin F (HbF) helps in diagnosis of the rarer δβ- forms. Thalassemia is characterised by splenomegaly and is common in malaria endemic areas. Hyper-reactive malarial splenomegaly is al...

Results Therapy with nonsteroidal anti-inflammatory drugs during attacks had poor benefit. A further febrile episode resulted in a status epilepticus. Treatment with canakinumab was initiated and a final dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patient ́s quality of life during a 6-month follow-up period. The drug has been w...

Hyper-immunoglobulin M (IgM) syndrome (HIGM) is a rare heterogeneous primary immune deficiency. We describe a patient with HIGM characterized by skewed production of serum IgG subclasses and normal somatic hypermutation. This case may represent a subgroup of HIGM type 4 that is characterized by a biased switching to the V-region proximal constant regions.

OBJECTIVE Mutations of signal transducer and activator of transcription 3 (STAT3) are responsible for autosomal dominant hyperimmunoglobulin E syndrome. Recently, we reported frequent vascular abnormalities, including aneurysms in these patients, and demonstrated that STAT3 inhibition promoted aneurysm in mice. The purpose of this study was to investigate the role of cell-specific STAT3 signali...

OBJECTIVE The hyperimmunoglobulin D syndrome (HIDS) is an autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase gene. Our objective was to define a clinical criterion able to exclude HIDS without the need of genetic testing. METHODS A recursive partitioning algorithm was applied to derive the clinical criterion in 149 patients with genetic testing in a Fren...

hyper - immunoglobulin e syndrome is a rare primary immunodeficiency disease characterized by recurrent abscess formation, respiratory tract infections and very high titers of serum ige associated with peculiar face and skeletal features. we report a seven-year old  girl  presenting with persistent productive cough and  history of chronic eczematoid facial lesions since infancy  and  two episod...

Introduction: Metabolic syndrome is defined as a cluster of metabolic disorders, which may lead to type II diabetes and cardiovascular diseases. Promotion of healthy lifestyle and use of herbal supplements with anthocyanin and phenols are recommended for the treatment of metabolic syndrome. The present study aimed to investigate the effects of eight weeks of combined aerobic an...

how to cite this article:  inaloo s, katibeh p. guillain-barre syndrome presenting with bilateral facial nerve palsy. iran j child neurol. 2014 winter;8(1):69-71. objective this case study is about an 11-year-old girl with bilateral facial weakness, abnormal taste sensation, and deep tendon reflexes of both knees and ankles were absent. however, the muscle power of the lower and upper extremiti...