Biomedical subjects

M V Perrone

Publications and source records attributed to M V Perrone.

6 recordsLinked to original sources

PubMed2001

Malignant migrating partial seizures in infancy.

A previously unreported epileptic condition characterised by onset before 6 months of age, nearly continuous electroencephalographic seizures involving multiple independent areas originating in both hemispheres, no identifiable cause, and poor outcome has been described by Coppola et al. We report three cases presenting the same clinical and EEG pictures. They show a peculiar epileptic condition unlike the other early epileptogenic encephalopathies, so they may represent a new infantile epileptic syndrome.

Brain↗

PubMed2001

Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

The early onset type of cobalamin (Cbl) C/D deficiency is characterised by feeding difficulties, failure to thrive, hypotonia, seizures, microcephaly and developmental delay. It has an unfavourable outcome, often with early death and significant neurological impairment in survivors. While clinical and biochemical features of Cbl C/D deficiency are well known, only a few isolated case reports are available concerning neurophysiological and neuroimaging findings. We carried out clinical, biochemical, neurophysiological and neuroradiologic investigations in 14 cases with early-onset of the Cbl CID defect. Mental retardation was identified in most of the cases. A variable degree of supratentorial white matter atrophy was detected in 11 cases by MR imaging and tetraventricular hydrocephalus was present in the remaining 3 patients. Waking EEG showed a clear prevalence of epileptiform abnormalities, possibly related to the high incidence of seizures in these cases. Increased latency of evoked responses and/or prolongation of central conduction time were the most significant neurophysiological abnormalities. The selective white matter involvement, shown both by neuroradiologic and neurophysiological studies, seems to be the most consistent finding of Cbl C/D deficiency and may be related to a reduced supply of methyl groups, possibly caused by the dysfunction in the methyl-transfer pathway.

5-Methyltetrahydrofolate-Homocysteine S-Methyltran↗

PubMed2000

Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases.

We reviewed the clinical and EEG features of 30 Italian patients with childhood-onset neuronal ceroid lipofuscinosis (NCL). The outcome and the EEG pattern of the 4 infantile NCL cases were classic, although the age at onset of symptoms varied from 1.0 to 3.5 years. This latter finding is unusual and has not been reported for other Italian patients. Both typical and variant cases of late-infantile NCL (LINCL) were observed. This NCL type represents the most common form in our country, and was the largest group (18 cases) in our study. A particular pseudoperiodic EEG pattern was observed in 15 of the 18 patients with LINCL. This pattern may be useful in early diagnosis, especially if associated with the absence of sleep spindles. In the 8 cases with juvenile NCL, clinical and EEG findings were similar to those reported in the literature.

Child↗

PubMed2000

Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts.

Leukoencephalopathy with swelling and a discrepantly mild clinical course ("van der Knaap disease") is a recently identified syndrome. It is characterised by macrocephaly occurring during the first year of life, initially normal or nearly normal development, and slowly progressive ataxia and spasticity with initial preservation of intellectual functions. MRI shows diffuse abnormality in signal intensity, as well as swelling of the hemispheral white matter with subcortical cyst-like spaces in the fronto-parietal and anterior temporal areas. It is thought to have an autosomal recessive mode of inheritance, since many patients have consanguineous parents and more than one affected patient is often present within the same family. We report on two sibs: a 5-year old boy affected with "van der Knaap disease" and his macrocephalic sister whose first MRI (2 years 6 months) showed delayed myelination, which led us to suspect the same disease as her brother, however with subsequent normalisation at the second MRI (3 years 6 months).

Brain Diseases↗

PubMed1999

Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly.

Alobar holoprosencephaly is one of the most severe congenital malformations of the central nervous system. Most affected infants are stillborn or have a very short life-span. The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood.

Child↗

PubMedDate not supplied

[Leukoencephalopathy with swelling, megalencephalopathy and surprisingly mild course. A case report].

Leukoencephalopathy with swelling and a discrepantly mild clinical course is a recently identified syndrome described by van der Knaap et al. It is characterised by macrocephaly occurring during the first year of life, initially normal or nearly normal development, slowly progressive ataxia and spasticity with initial preservation of intellectual functions. MRI shows diffuse abnormality of signal intensity in the hemisphere white matter with subcortical cyst-like spaces in the fronto-parietal and anterior temporal areas. The case of a 5-year-old boy whose clinical and neuroimaging findings are consistent with this syndrome is reported. The clinical and neuroimaging findings of this case may provide further information about this new syndrome which could possibly be useful also for genetic counselling.

Brain↗