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)
Benign paroxysmal torticollis is an episodic functional disorder of unknown etiology that occurs in the early months of life in healthy individuals. The child's head tilts to one side for a few hours or days, usually without any associated symptoms. The disorder, which disappears within the first few years of life, is often misinterpreted and the patient(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)
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)
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)
INTRODUCTION Cerebral germinomas, the most common and least malignant intracranial germ cell tumors, usually arise in the pineal or suprasellar region and have characteristic clinical and radiological features. Germinomas more rarely occur in the thalamus, basal ganglia, and internal capsule, causing sometimes cerebral hemiatrophy and hemiparesis. More(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)
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)
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)
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.