Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.
Explore the source record for details and available documents.
Adult↗
Biomedical subjects
C Uggetti
Publications and source records attributed to C Uggetti.
Postinfectious inflammatory disorders: subgroups based on prospective follow-up.
BACKGROUND: Acute disseminated encephalomyelitis (ADEM) refers to a monophasic acute multifocal inflammatory CNS disease. However, both relapsing and site-restricted variants, possibly associated with peripheral nervous system (PNS) involvement, are also observed, and a systematic classification is lacking. OBJECTIVE: To describe a cohort of postinfectious ADEM patients, to propose a classification based on clinical and instrumental features, and to identify subgroups of patients with different prognostic factors. METHODS: Inpatients of a Neurologic and Infectious Disease Clinic affected by postinfectious CNS syndrome consecutively admitted over 5 years were studied. RESULTS: Of 75 patients enrolled, 60 fulfilled criteria for ADEM after follow-up lasting from 24 months to 7 years. Based on lesion distribution, patients were classified as encephalitis (20%), myelitis (23.3%), encephalomyelitis (13.3%), encephalomyeloradiculoneuritis (26.7%), and myeloradiculoneuritis (16.7%). Thirty patients (50%) had a favorable outcome. Fifteen patients (25%) showed a relapsing course. Poor outcome was related with older age at onset, female gender, elevated CSF proteins, and spinal cord and PNS involvement. All but two patients received high-dose steroids as first-line treatment, with a positive response in 39 (67%). Ten of 19 nonresponders (53%) benefited from high-dose IV immunoglobulin; 9 of 10 had PNS involvement. The data were not controlled. CONCLUSIONS: A high prevalence of "atypical variants" was found in this series, with site-restricted damage or additional peripheral nervous system (PNS) involvement. Prognosis and response to steroids were generally good, except for some patient subgroups. In patients with PNS involvement and steroid failure, a favorable effect of IV immunoglobulin was observed.
Adult↗
The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.
Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels.
Abnormalities, Multiple↗
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
The authors report a girl with autosomal recessive congenital muscular dystrophy linked to chromosome 6 (MDC1A) who carries a homozygous out-of-frame deletion in exon 56 of the LAMA2 gene but has a mild phenotype. She is still ambulant at age 13 years, shows white matter abnormalities on MRI, and traces of laminin alpha2 in her muscle biopsy with one of three antibodies used. This patient suggests that modulating factors can be associated with a less severe clinical phenotype in MDC1A.
Adolescent↗
Atypical multiple sclerosis: MRI findings and differential diagnosis.
In the past few years, magnetic resonance imaging (MRI) has become increasingly relevant in the diagnosis of multiple sclerosis (MS). Yet, the specificity of MR is limited. Atypical forms of MS and other diseases of the central nervous system may show similar patterns in MR. We briefly discuss the MR findings of the main MS-like diseases. Correct differential diagnosis can be carried out by combining the MR findings with clinical and laboratory findings.
Brain↗
Late diagnosis in severe and mild intellectual disability in adulthood.
BACKGROUND: The diagnosis of intellectual disability (ID) is highly dependent on a comprehensive personal and family medical history, a complete physical examination and a careful developmental assessment of the patient. Our study intended to: (1) classify the aetiology of mild and severe ID in an adult population of 140 Italian subjects; (2) evaluate the frequency of associated medical conditions; (3) evaluate the age of diagnosis in both groups; and (4) underline the importance of aetiological diagnosis for adult ID patients also. METHODS: The study involved 140 consecutive adult Italian ID inpatients and outpatients neurologically investigated at the Neurological Institute C. Mondino of Pavia Service for Mental Retardation. A total of 80 patients had mild ID (MID group) (39 females, 41 males), mean age 34 years (range 19-61 years), mean IQ = 64 (range 51-75), and 60 had severe ID (SID group) (32 females, 28 males), mean age 30 years (range 19-69 years). They underwent a complete diagnostic work-up that comprised prenatal, perinatal and postnatal history, physical examinations, laboratory investigations, genetic survey and neuroradiological investigations to determine the aetiology of ID and to evaluate the presence of associated medical conditions. RESULTS: ID aetiology was classified as prenatal in 34% of the MID and 28% of the SID group. Perinatal and postnatal events were found in 6% of the MID and in 5% of the SID group. Associated medical conditions were found in 97 patients (47% MID and 26% SID). A genetic diagnosis was possible in 6% of patients above 20 years of age and in 5% of patients above 40 years. A diagnosis of cerebral dysgenesis was possible in 5% of patients above 20 years and 4% of patients above 40 years. CONCLUSIONS: A long interval between the diagnosis of ID and the aetiological definition can be observed in a significant percentage (24%) of our population, leading to unfortunate consequences of late diagnosis: late onset of a specific therapeutic program, genetic counselling that is frequently no more useful, and ineffective prenatal diagnosis, leading to the birth of other affected subjects (for familiar ID).
Adult↗
Measurement of skeletal muscle mass in Duchenne muscular dystrophy: use of 24-h creatinine excretion.
Creatinine concentration in 24-h urine has been proposed as an indirect measure of body skeletal muscle mass (SMM). We attempted to correlate urinary creatinine levels with SMM in eight patients with Duchenne muscular dystrophy, a progressive disease in which the degree of muscle wasting parallels the rate of progression. Magnetic resonance imaging and a newly developed protocol for image analysis were used for the measurement of SMM. The patients ate a creatine-free diet for the week before urine collection. Creatinine was measured with an enzymatic-colorimetric method. Mean (+/-SD) SMM value was 5.4+/-2.5 kg and urine creatinine levels 205.8+/-96.4 mg/day. Daily urinary creatinine excretion did not correlate with SMM. The simple creatinine determination in urine cannot predict SMM in Duchenne muscular dystrophy.
Biomarkers↗
Stroke in young people: imaging.
Stroke in young people is an unexpected event, whose causes are more heterogeneous than in the older population. Moreover, its diagnosis must exclude a large number of other diseases. Thereby, imaging plays an important role in the diagnostic approach of these patients. The aims of the neuroradiological work-up are to confirm that an acute ischemic lesion has occurred, to determine the location and the extent of the lesion, to verify the patency of major neck and intracranial arteries and to exclude eventual underling pathologies. In this sense, MRI offers the best sensitivity and spatial resolution. The more frequent causes of ischemic stroke in young people are considered and the correspondent characteristic imaging aspects are described.
Adolescent↗
Body composition and energy expenditure in Duchenne muscular dystrophy.
OBJECTIVE: To investigate the relationship between resting energy expenditure (REE) and body composition in Duchenne Muscular Dystrophy (DMD). DESIGN: An observational study. SETTING: University Research Centre. SUBJECTS: Nine Duchenne children (age range 6-12 y), mean relative weight 128%, agreed to undergo the investigation and all of them completed the study; INTERVENTIONS: Assessment of body composition (total body fat and skeletal muscle mass) by magnetic resonance imaging and resting energy expenditure by indirect calorimetry. MAIN OUTCOME MEASURES: Fat mass (FM; kg and percentage weight), fat-free mass (FFM; kg and percentage weight), muscle mass (kg and percentage weight), resting energy expenditure (kJ/kg body weight and kJ/kg fat-free mass). RESULTS: : In Duchenne children fat mass averages 32% and total skeletal muscle mass 20% of body weight. Resting energy expenditure per kg of body weight falls within the normal range for children of the same age range, while when expressed per kg of FFM is significantly higher than reference values. No relationship was found between REE and total skeletal muscle mass. CONCLUSIONS: Our results do not demonstrate a low REE in DMD boys; on the contrary REE per kg of FFM is higher than normal, probably due to the altered FFM composition. We suggest that the development of obesity in DMD children is not primarily due to a low REE but to other causes such as a reduction in physical activity and or overfeeding.
Body Composition↗
Effectiveness of intravenous immunoglobulin treatment in adult patients with steroid-resistant monophasic or recurrent acute disseminated encephalomyelitis.
Randomized Controlled Trials have not let established the best pharmacological management of Acute Disseminated Encephalomyelitis (ADEM). High dose steroids are usually employed with good results, but in a few cases the clinical outcome is poor. In other patients, particularly those affected by the site restricted ADEM variants (myelitis), the disease shows a recurrent course resembling that of Multiple Sclerosis. We present here five patients, 3 of them affected by classic disseminated encephalomyelitis and 2 by a post infectious myelitis, which showed a good response to intravenous immunoglobulin (IVIg) after steroid treatment failure. In our report high dose steroids administration was substantially uneffective in all but one case, who showed a good response only during the first episode. On the contrary IVIg injection (0,4 gr/kg/day) produced a marked functional improvement in all patients starting within the first five days of drug administration and reaching a maximum within three weeks. One patient experienced a good effect nothwithstanding a steady dysability. In all cases, clinical evidence was supported by MRI controls showing improving posttreatment changes.
Aged↗
Subcortical dementia associated with striking enlargement of the Virchow-Robin spaces and transneural degeneration of the left mammillo-thalamic tract.
We report a case of subcortical dementia in a 68-year-old woman. MR examination of the patient's brain revealed two types of alterations as a possible cause of the dementia, both anomalous in respect of their entity and incidence: the first was a striking enlargement of the Virchow-Robin spaces, and the second an anterograde transneural degeneration of the left mammillo-thalamic tract and mammillary body secondary to a lacunar infarction of the ipsilateral anterior thalamus.
Aged↗
Dystrophinopathies: peculiar clinical and laboratory aspects.
Explore the source record for details and available documents.
Body Composition↗
Migraine with aura and white matter abnormalities: Notch3 mutation.
The authors report on an Italian family with eight affected members who show autosomal dominant migraine with prolonged visual, sensory, motor, and aphasic aura. These symptoms are associated with white matter abnormalities on brain MRI. All living affected members carry a Notch3 mutation (Arg153Cys) previously reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). White matter abnormalities occur in a variable percentage of the general migraine population; CADASIL should be suspected in migraineurs with prolonged atypical aura and white matter abnormalities.
Brain↗
Bilateral striatal necrosis associated with Mycoplasma pneumoniae infection in an adolescent: clinical and neuroradiologic follow up.
Explore the source record for details and available documents.
Acute Disease↗
Oral self-mutilation in a patient with rhombencephalosynapsys.
Rhombencephalosynapsis (RS) is a rare cerebellar malformation. Its essential features are the absence of the incisura cerebelli posterior, fusion of the cerebellar hemispheres, the absence of the velum medullare anterius and nuclei fastigii, and fusion of the dentate nuclei, which are shifted towards the mid-line. Clinically, affected patients present with signs of cerebellar and motor disturbances. The present report describes a new patient affected by RS. The subject first presented at the age of 22 years because of a psychiatric symptomatology which was characterized by obsessive oral self-mutilation associated with an intellectual disability. Objective evaluation documented dysmorphic features, while neurological examination showed only a slight truncal ataxia. The subject's IQ was 74 on the Wechsler Scale (verbal IQ = 79, performance IQ = 74). Psychiatric evaluation with DSM-IV criteria documented an obsessive-compulsive personality disorder associated with emotional instability and oral self-mutilation. The typical picture of rhombencephalosynapsis was evident on magnetic resonance imaging. Both chromosomal analysis and routine biochemical investigations were normal. The relationship between oral self-injurious behaviour and cerebellar malformations is discussed with particular regard to the behavioural aspects of cerebellar congenital pathology in affective disorders and in autism.
Adult↗
Auditory saccade impairment after central thalamus lesions.
Visual and auditory saccades were studied in three patients with an isolated lesion located in the central thalamus. Visual saccades proved to be normal, whereas for auditory stimuli, the amplitude of the first saccade was asymmetric: saccades ipsilateral to the lesion were significantly smaller than those directed to the contralateral side. The patients were able to make a corrective saccade and hence to improve gain and to decrease gain asymmetry. It is suggested that patients were able to localise auditory targets correctly, but did not correctly take into account eye position during the saccade, probably as a consequence of an inaccurate efference copy (corollary discharge) signal. The findings are in keeping with the hypothesis that the central thalamus deals with saccades that are based on extraretinal signals.
Acoustic Stimulation↗
Cerebral visual impairment in periventricular leukomalacia.
Infants with cerebral palsy (CP) frequently present cerebral visual impairment (CVI) often caused by damage to retrochiasmatic pathways. This is particularly true of subjects with damage to the periventricular white matter. Thirty-eight preterm infants with periventricular leukomalacia (PVL) diagnosed by MRI were examined to correlate binocular visual acuity with neuroradiological findings. Binocular visual acuity was evaluated using Teller Acuity Cards and a complete ophthalmological examination was also performed. Three infants with ROP III were excluded from the sample. The age of observation ranged from 20 months to 5 and a half years (mean 42 months). The possible involvement of the optic radiations and/or of the calcarine cortex was detected by brain MRI. Twenty-three infants (66%) presented visual impairment. Of these, 9 (26%) were totally or nearly totally blind and 14 (40%) were low vision children. The other 12 (34%) had normal (2) or near normal (9) vision. MRI findings correlated with visual acuity; a relationship was detected between the degree of visual acuity and the reduction of the peritrigonal white matter, and also between the degree of visual acuity and the extent of calcarine atrophy. This report clearly establishes a relationship between visual impairment and specific MRI findings in children with PVL. Teller Acuity Cards and MRI are useful for detecting potential visual impairment and for improving both the clinical diagnosis of these disorders and the therapeutic approach to these subjects.
Atrophy↗
Cerebral cavernous angiomas: an atypical case in infancy.
Cerebral cavernous angiomas (CCA) are rare, reportedly accounting for only 1% of all intracranial vascular lesions and 15% of all cerebral vascular malformations. Forms are sporadic or familial, and the mode of inheritance is probably autosomal dominant. We report an unusual case of an infant born at 37 weeks of gestational age following a normal pregnancy. Her birth-weight was 1560 g. The family history was negative. At 10 months of age, the child presented with the sudden onset of muscular hypotonia, motility and strength deficits, and absence of osteotendinous reflexes in the right arm. The psychomotor development of the child was normal. MRI revealed the presence of a cavernous angioma in the paramedian pontine region. The child's monoparesis quickly disappeared. This case is interesting because of the age at onset and the way in which the clinical manifestations developed.
Brain Neoplasms↗