Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload.

Aceruloplasminemia is a rare autosomal recessive disorder of iron accumulation in the brain. It is one of the subtypes of Neurodegeneration with brain iron accumulation and is characterized by the uniform involvement of all basal ganglia, thalami, dentate nuclei, and cortex. Aceruloplasminemia is the only known iron overload disorder in which brain and systemic iron overload are combined. Here, we present a 53-year-old female who had progressive cognitive disorders with motor deficits. MRI showed extensive and abundant iron deposited in the brain and in the liver.

Pulmonary Arteriovenous Malformations Incidentalloma in a 10-Years-Old Child.

Pulmonary Arteriovenous Malformations (PAVMs) are structurally abnormal vascular communications between pulmonary arteries and pulmonary veins, which bypass the normal capillary bed and cause a low resistance right-to-left shunt with refractory hypoxemia. Generally, PAVMs were congenital, most commonly associated with (Hereditary hemorrhagic teleangiectasia (HHT). The age of diagnosis is very variable, range neonatal to adulthood, mostly diagnosed in the first 3 decades of life and clinical manifestations occur later in life generally. Here, we report PAVMs discovered incidentally in a 10-years-old child without any known risk factor.

Reversible Encepahlopathy Induced by Ifosfamide with Brain Imaging.

Chemotherapy may be responsible for central and/or peripheral neurotoxicity. These neurological complications are frequent but little known. Some molecules are more providers, responsible for acute or late complications, sometimes not reversible. Some manifestations such as acute encephalopathy and acute reversible encephalopathy are increasingly understood. We report here a case of acute ifosfamide-induced encephalopathy (EII) with brain damage resolved after discontinuation of this treatment in a 13-years-old child.

Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). We present a case of an 11 year-old boy presenting extrapyramidal signs and developmental regression. T2-weighted images showed the classic eye of the tiger sign seen in pantothenate kinase-associated neurodegeneration.