Anna Maria Laverda

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BACKGROUND Mutations in genes encoding subunits of the tRNA-splicing endonuclease (TSEN) complex were identified in patients with pontocerebellar hypoplasia 2 (PCH2) and pontocerebellar hypoplasia 4 (PCH4). OBJECTIVE We report molecular genetic findings in 12 Italian patients with clinical and MRI findings compatible with PCH2 and PCH4. METHODS We(More)
Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients(More)
20 children with severe cerebral palsy and history of urinary incontinence and recurrent urinary infection underwent radio--and neuro-urologic evaluation. Vesico-ureteral reflux was found in 7 patients. In 9, who had presented episodes of urine sub-retention, a urodynamic study demonstrated detrusor muscle hyperreflexia in all, deficit of vesicourethral(More)
Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10(More)
BACKGROUND Hemiplegic migraine (HM) is a rare variety of migraine with aura, characterized by motor deficits during the aura, often beginning in childhood. The hemiplegic attacks can be severe and prolonged but the prognosis is usually good. Data on neuroimaging, including diffusion-weighted imaging (DWI) and spectroscopy, during prolonged attacks of HM are(More)
Metachromatic leukodystrophy (MLD) is an autosomal recessive disease with well-documented intracranial findings on neuroimaging both by computed tomography (CT) and MRI. We describe the first case of late infantile MLD with spinal involvement revealed by MRI as marked contrast enhancement of nerve roots at the level of the cauda equina.
Forty-two children born to HIV positive mothers (29 infected at different stages of the disease, according to the Disease Control Classification Centers, and 13 noninfected) underwent evaluation using a battery of neuropsychological tests. Executive function impairments were present in all infected children, whereas memory and visuo-prassic deficits were(More)
We evaluated the visual outcome of a cohort of children with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG) treated according to standardized therapeutic guidelines. The study population consisted of all consecutive patients with NF1 and OPG referred to a specialized pediatric neuro-oncology program between 1994 and 2004. Treatment was(More)
Autosomal recessive Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a hypomyelinating disorder of the central nervous system (CNS) with virtually identical phenotype to Pelizaeus-Merzbacher disease (PMD). PMLD1 is caused by mutations in GJA12 gene, PMD is due to mutations in PLP1 gene. Elevated levels of N-acetylaspartylglutamate (NAAG), the most abundant(More)