Arthrogryposis, renal tubular dysfunction and cholestasis [ARC] syndrome: a case report

Arthrogryposis, renal tubular dysfunctions and chloestasis [ARC] syndrome is a rare multisystem, usually fatal, autosomal recessive disorder. Awareness of this syndrome is growing with more reported cases over the last three decades. Many previously reported cases with similar association are now labeled as ARC syndrome. Although the genetic mutation is recently recognized, the diagnosis still depends on the clinical findings. Our patient is the first case of ARC syndrome to be reported from Kuwait. To the best of our knowledge this is also the first report of an Egyptian family with two siblings of ARC syndrome

Fulminating shigella encephalopathy [Ekiri syndrome]: a case report

Neurological manifestation, particularly seizures and encephalopathy, are common in childhood shigellosis. Fulminating shigella encephalopathy [Ekiri syndrome] is a rare form of shigella associated encephalopathy characterized by a rapid, severe and fatal course with few dysenteric symptoms. Brain edema is a common finding in patients presenting with severe shigella encephalopathy. Shiga toxin production is not essential for development of shigella-associated neurological symptoms. Early recognition and proper management of cases of severe shigella encephalopathy may help to improve the outcome. We are reporting the case of a six and half year old male child with severe fulminating shigella-encephalopathy [Ekiri syndrome] who made a partial recovery. Brain magnetic resonance image [MRI] findings of this patient are reported. To the best of our knowledge, brain MRI studies were not reported before in the pediatric population with Ekiri syndrome; moreover, this is probably the first case of Ekiri syndrome to be reported in the Arab population