A Closer Investigation of the Synchronous Bilateral Pattern of MRI Lesions in Acute Necrotizing Encephalopathy Type 1.

We observed a lesion pattern in a series of 4 cases of RANBP2-mutation-linked acute necrotizing encephalopathy, which appears to be specific for this condition. The setting of synchronous bilateral mammillary, amygdaloid, and lateral geniculate lesions, along with claustro-parahippocampal lesions, can serve as a diagnostic tool in this condition. We add several further details to the MR imaging features of the typical brain lesions encountered in this disease.

Progressive multifocal leukoencephalopathy in an HIV-infected child.

Progressive multifocal leukoencephalopathy is an infection of the immunosuppressed, especially of AIDS, patients. The disease is caused by the JC virus and is exceptionally rare in children. The diagnosis is based on MRI and on the detection of JC virus DNA in the cerebrospinal fluid. Progression is relentless in most cases. The only treatment of proven benefit is restoration of the immune system by highly active antiretroviral therapy. We report the case of a 15S-year-old HIV-infected boy. After several months of fatigue he developed apathy, head tilt, diplopia, motor apraxia and unsteady gait. Physical examination revealed mild cerebellar signs. MRI showed a 30-mm large, non-enhancing, hyper-intense area in the right cerebellar hemisphere and the middle cerebellar peduncle. JC virus DNA was detected in the cerebrospinal fluid. Two weeks later the MRI showed progression. The patient's condition rapidly worsened and he died four months after the onset of the disease. Autopsy revealed widespread lesions of the cerebellar hemispheres and the brainstem. The case presented is peculiar owing to the young age of the patient, the unusual localization and the unifocal nature of the lesion.

Bilateral striatal lesion associated with varicella.

Bilateral striatal lesion is characterised by a specific clinical syndrome (encephalopathy with rigidity, irritability, variable pyramidal, and extrapyramidal symptoms, speech abnormalities) and symmetrical lesion of the basal ganglia including the caudate nucleus, the putamen, and occasionally other nuclei. We report three cases in whom bilateral striatal lesion developed in association with varicella. Each patient recovered completely and showed no signs of cognitive deficiency, chorea or hyperkinetic syndrome, all of which have been reported as sequelae of BSL associated with other conditions. These cases suggest that bilateral striatal lesion may be an immune-mediated complication of varicella.

[Ito hypomelanosis (incontinentia pigmenti achromians)]. / Hypomelanosis Ito (incontinentia pigmenti achromians).

Authors report the case of a white male patient suffering from a rare neurocutaneous dysplasia. Macrocrania and right ventricular dilation of the brain were present at birth. Motor milestones were delayed and epilepsy with staring spells started at the age of 6 months. On examination at 2 years of age hypopigmented areas of linear distribution were noted on the right extremities and on the right side of the trunk, beyond macrocrania, psychomotor and mental delay. Cranial MRI performed at 5 years of age proved predominantly right-sided megalencephaly, gray matter heterotopia within the right hemispherium and polymicrogyria in the perisylvian region. The EEG was characterized by high-amplitude rhythmic theta activity over the right frontal area. Hypomelanosis of Ito was diagnosed. Authors call attention on the importance of skin lesions in neuropediatric disorders, and give a brief review of the literature in hypomelanosis of Ito.

[Low dose ACTH therapy in West syndrome]. / Alacsony dózisú ACTH terápia West-syndromában.

Ten patients with infantile spasms were treated with low dose ACTH therapy during the last five years. The etiology, EEG, the clinical features and the efficacy of the treatment were found to be similar to the data published in the literature. The early diagnosis, etiological classification and the appropriate therapy of the disease were important to obtain a better outcome. The low dose (20-40 UE) ACTH therapy proved to be effective.

[Septo-optic dysplasia (de Morsier syndrome)]. / Septo-opticus dysplasia (de Morsier syndroma).

Authors report a rare central nervous system malformation on giving account of three of their cases. The possibility of septo-optic dysplasia should be raised in children with unilateral or bilateral hypoplasia of the optic nerve. The use of neuroimaging technics is necessary for establishing the diagnosis. Knowing the disease is important because of the hypopituitarism which can accompany it, and which can necessitate an early hormone replacement therapy.

[Non-ketotic hyperglycinemia]. / Non-ketoticus hyperglycinaemia.

Three children with non-ketotic hyperglycinaemia (NKH) is reported. Two patients had typical neonatal form of NKH, one patients had atypical form of NKH. The clinical symptoms laboratory findings and therapeutical approach are discussed. One of the patients with typical neonatal form of NKH is died, neuropatological examination revealed corpus callosal agenesis and diffuse hypomyelinisation. The two children treated with N-methyl-D-aspartate-antagonist drugs reached a significantly better clinical condition. The authors reviewed the data of the literature, especially focused on the therapeutical possibilities.