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Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of T2 hypointensity in the globus pallidus with a small hyperintensity in its medial part, called the "eye-of-the-tiger" sign. We report on 2 patients affected by PKAN, in whom MRI examination did not demonstrate the "eye-of-the-tiger" sign in the early stages; the typical abnormalities were detected only in the following examinations. Case 1 is a 4-year-old boy first studied at age 2 years for psychomotor delay. The brain MRI was normal. In the following 2 years, the motor impairment progressed. The second brain MRI at age 4 years demonstrated the "eye-of-the-tiger" sign. Molecular analysis of the PANK2 gene revealed a missense mutation F228S in exon 2 in homozygosis. Case 2 is a 6-year-old boy first studied at age 2 years because of psychomotor delay. His brain MRI did not demonstrate abnormalities in the globus pallidus. In the following years spastic-dystonic tetraparesis became evident. A brain MRI at age 4 years demonstrated the "eye-of-the-tiger" sign. Molecular analysis of the PANK2 gene revealed a missense mutation in exon 5 (N501I). Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN., (Georg Thieme Verlag KG Stuttgart · New York.)

Unlabelled: The case of a 7-month-old boy with vertically acquired immunodeficiency syndrome and multifocal primary cerebral lymphoma is reported. Neither neurological nor neuroradiological findings contributed towards the appropriate diagnosis. Positive Epstein-Barr virus DNA, assessed by means of polymerase chain reaction in cerebrospinal fluid, strongly suggested a diagnosis of primary cerebral lymphoma, which was subsequently confirmed by autopsy.Conclusions: The detection of Epstein-Barr virus DNA using the polymerase chain reaction in cerebrospinal fluid is useful for the diagnosis of primary cerebral lymphoma. [ABSTRACT FROM AUTHOR]

The article reports on a 2015 study that describes neurodegeneration with brain iron accumulation caused by PLA2G6 gene mutations. Topics include aspartate aminotransferase, infantile neuroaxonal dystrophy, lactate dehydrogenase, PLA2G6-associated neurogeneration, hydrolyses glycerophospholipids, and creatine phosphokinase.