In this study we evaluated serum IgA, IgG, IgM levels and IgG subclass concentrations from 57 sub... more In this study we evaluated serum IgA, IgG, IgM levels and IgG subclass concentrations from 57 subjects belonging to 13 families (with at least two members with febrile convulsions). Our results seem to suggest that affected siblings have lower IgG2 levels as compared to their relatives and to controls, while normal values were found in parents with a history of FC
Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 6... more Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected patients; however, the problem remains under-recognized and under-treated. We conducted an Italian consensus through a modified Delphi survey to discuss the current treatment paradigm of drooling in pediatric patients with neurological disorders. Methods After reviewing the literature, a board of 10 experts defined some statements to be administered to a multidisciplinary panel through an online encrypted platform. The answers to the questions were based on a 1–5 Likert scale (1 = strongly disagree; 5 = strongly agree). The scores were grouped into 1–2 (disagreement) and 4–5 (agreement), while 3 was discarded. The consensus was reached when the sum of the disagreement or agreement was ≥75%. Results Fifteen statements covered three main topics, namel...
The importance of physical activity in the management of diabetes is well established. The effect... more The importance of physical activity in the management of diabetes is well established. The effect of programmed exercise and measurable skeletal activities on diabetes has been variously studied. Chorea induces an increase in spontaneous movement. Its occurrence in a teenager with type 1 diabetes provides new insights into our knowledge of metabolic outcomes. In our patient, the reduction in daily insulin demand was linked to choreic movement: a 67% decrease in insulin supply was needed to avoid episodes of hypoglycaemia; moreover, improved metabolism (measured as glycated haemoglobin) was obtained. Since no dietary changes were made and clinical events (including fever, drugs, weight loss, voluntary physical activity, psychological opposition or refusal of treatment) interfering with metabolic control of diabetes occurred, it appeared that only increased physical movements due to chorea reduced the patient's insulin requirement. As spontaneous movements declined with healing, m...
Abstract: Background: The influence of physiological and methodological factors on recordings of ... more Abstract: Background: The influence of physiological and methodological factors on recordings of brainstem auditory evoked potentials (BAEPs) is greater in children than in adults. Objective: To collect and evaluate BAEP data in normal children, and measure intra- and inter-laboratory variability. Methods: Seven hundred and fifty unselected BAEP recordings were collected and evaluated from children ranging from neonates to 14-year-olds by eight laboratories in Italy. Results: In newborns, three laboratories showed satisfactory concordance; wave I was more broadly distributed than wave V and IPL I-V. The evaluation of pooled BAEP data from the older children showed that laboratories with age-matched data gave overlapping results; those with unmatched-age data differed significantly. The sound intensities of the laboratories did not significantly affect absolute BAEP latencies or IPLs. Females had shorter latencies than males; the difference was not significant. A single exponential r...
Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect i... more Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect in ASNS—a gene encoding asparagine synthetase. It has mainly been described as a neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity, and refractory seizures; it is not associated with any specific dysmorphisms. ASNS deficiency leads to the inability to synthesize a nonessential amino acid in the brain, this explains why the symptoms are primarily neurological. The accumulation of aspartate/glutamate causes increased neuronal apoptosis leading to brain atrophy and increased neuronal excitability leading to seizures. Asparagine levels in plasma and cerebrospinal fluid are not reliable biomarkers for this disorder, therefore diagnosis is mainly obtained by molecular genetics. This disorder is associated with a poor prognosis and there is no treatment except supportive therapy. Prenatal diagnosis is possible. We report a case of a later onset...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2018
A 7-month-old male Caucasian infant was presented for evaluation of congenital hair dysplasia wit... more A 7-month-old male Caucasian infant was presented for evaluation of congenital hair dysplasia with light-brown, opaque, fragile, thick, kinky hair. He also showed pale and elastic skin with redundant nuchal skin, pudgy cheeks, craniofacial abnormalities, and severe psychomotor impairment (Figure 1). At 10 days of life, he was hospitalized due to poor weight gain and hyporeactivity. One month later, he developed anemia (Hb 6.4 g/dL), a urinary tract infection, and gastroesophageal reflux. From the age of four months, he started having focal seizures with intermittent eye deviation, hand and finger myoclonus, as well as hypertonia and dyskinesia of the shoulder girdle; EEG showed a left temporal-occipital focus.
Neonatal seizures are a risk factor for later epilepsy and their etiology is known to be implicat... more Neonatal seizures are a risk factor for later epilepsy and their etiology is known to be implicated in the outcome but, little is known about this issue in the subgroup of seizures symptomatic of perinatal arterial ischemic stroke. The aim of this study was to describe the long term risk of epilepsy after electroencephalographic confirmed neonatal seizures symptomatic of perinatal arterial ischemic stroke. Fifty-five patients with electroclinical ictal data, vascular territory confirmed by neuroimaging and a minimum follow up of 3.5years were identified from a multi-centre prospective neonatal seizures registry. Primary outcome was occurrence of post-neonatal epilepsy. The association of outcome with family history of epilepsy, gender, location of the infarct, neonatal clinical and electroencephalogram data were also studied. During a mean follow up of 8years and 5months, 16.4% of the patients developed post neonatal epilepsy. The mean age at first post neonatal seizure was 4years and 2months (range 1-10years and 6months). Location of the infarct was the only statistically significant risk factor (p=0.001); epilepsy was more represented in males but the difference was not statistically significant. Neonatal seizures symptomatic of perinatal arterial ischemic stroke had lower risk and later onset of post-neonatal epilepsy, compared to seizures described in the setting of other perinatal brain insults. Our data have implications for counseling to the family at discharge from neonatal intensive care unit.
In this study we evaluated serum IgA, IgG, IgM levels and IgG subclass concentrations from 57 sub... more In this study we evaluated serum IgA, IgG, IgM levels and IgG subclass concentrations from 57 subjects belonging to 13 families (with at least two members with febrile convulsions). Our results seem to suggest that affected siblings have lower IgG2 levels as compared to their relatives and to controls, while normal values were found in parents with a history of FC
Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 6... more Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected patients; however, the problem remains under-recognized and under-treated. We conducted an Italian consensus through a modified Delphi survey to discuss the current treatment paradigm of drooling in pediatric patients with neurological disorders. Methods After reviewing the literature, a board of 10 experts defined some statements to be administered to a multidisciplinary panel through an online encrypted platform. The answers to the questions were based on a 1–5 Likert scale (1 = strongly disagree; 5 = strongly agree). The scores were grouped into 1–2 (disagreement) and 4–5 (agreement), while 3 was discarded. The consensus was reached when the sum of the disagreement or agreement was ≥75%. Results Fifteen statements covered three main topics, namel...
The importance of physical activity in the management of diabetes is well established. The effect... more The importance of physical activity in the management of diabetes is well established. The effect of programmed exercise and measurable skeletal activities on diabetes has been variously studied. Chorea induces an increase in spontaneous movement. Its occurrence in a teenager with type 1 diabetes provides new insights into our knowledge of metabolic outcomes. In our patient, the reduction in daily insulin demand was linked to choreic movement: a 67% decrease in insulin supply was needed to avoid episodes of hypoglycaemia; moreover, improved metabolism (measured as glycated haemoglobin) was obtained. Since no dietary changes were made and clinical events (including fever, drugs, weight loss, voluntary physical activity, psychological opposition or refusal of treatment) interfering with metabolic control of diabetes occurred, it appeared that only increased physical movements due to chorea reduced the patient's insulin requirement. As spontaneous movements declined with healing, m...
Abstract: Background: The influence of physiological and methodological factors on recordings of ... more Abstract: Background: The influence of physiological and methodological factors on recordings of brainstem auditory evoked potentials (BAEPs) is greater in children than in adults. Objective: To collect and evaluate BAEP data in normal children, and measure intra- and inter-laboratory variability. Methods: Seven hundred and fifty unselected BAEP recordings were collected and evaluated from children ranging from neonates to 14-year-olds by eight laboratories in Italy. Results: In newborns, three laboratories showed satisfactory concordance; wave I was more broadly distributed than wave V and IPL I-V. The evaluation of pooled BAEP data from the older children showed that laboratories with age-matched data gave overlapping results; those with unmatched-age data differed significantly. The sound intensities of the laboratories did not significantly affect absolute BAEP latencies or IPLs. Females had shorter latencies than males; the difference was not significant. A single exponential r...
Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect i... more Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect in ASNS—a gene encoding asparagine synthetase. It has mainly been described as a neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity, and refractory seizures; it is not associated with any specific dysmorphisms. ASNS deficiency leads to the inability to synthesize a nonessential amino acid in the brain, this explains why the symptoms are primarily neurological. The accumulation of aspartate/glutamate causes increased neuronal apoptosis leading to brain atrophy and increased neuronal excitability leading to seizures. Asparagine levels in plasma and cerebrospinal fluid are not reliable biomarkers for this disorder, therefore diagnosis is mainly obtained by molecular genetics. This disorder is associated with a poor prognosis and there is no treatment except supportive therapy. Prenatal diagnosis is possible. We report a case of a later onset...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2018
A 7-month-old male Caucasian infant was presented for evaluation of congenital hair dysplasia wit... more A 7-month-old male Caucasian infant was presented for evaluation of congenital hair dysplasia with light-brown, opaque, fragile, thick, kinky hair. He also showed pale and elastic skin with redundant nuchal skin, pudgy cheeks, craniofacial abnormalities, and severe psychomotor impairment (Figure 1). At 10 days of life, he was hospitalized due to poor weight gain and hyporeactivity. One month later, he developed anemia (Hb 6.4 g/dL), a urinary tract infection, and gastroesophageal reflux. From the age of four months, he started having focal seizures with intermittent eye deviation, hand and finger myoclonus, as well as hypertonia and dyskinesia of the shoulder girdle; EEG showed a left temporal-occipital focus.
Neonatal seizures are a risk factor for later epilepsy and their etiology is known to be implicat... more Neonatal seizures are a risk factor for later epilepsy and their etiology is known to be implicated in the outcome but, little is known about this issue in the subgroup of seizures symptomatic of perinatal arterial ischemic stroke. The aim of this study was to describe the long term risk of epilepsy after electroencephalographic confirmed neonatal seizures symptomatic of perinatal arterial ischemic stroke. Fifty-five patients with electroclinical ictal data, vascular territory confirmed by neuroimaging and a minimum follow up of 3.5years were identified from a multi-centre prospective neonatal seizures registry. Primary outcome was occurrence of post-neonatal epilepsy. The association of outcome with family history of epilepsy, gender, location of the infarct, neonatal clinical and electroencephalogram data were also studied. During a mean follow up of 8years and 5months, 16.4% of the patients developed post neonatal epilepsy. The mean age at first post neonatal seizure was 4years and 2months (range 1-10years and 6months). Location of the infarct was the only statistically significant risk factor (p=0.001); epilepsy was more represented in males but the difference was not statistically significant. Neonatal seizures symptomatic of perinatal arterial ischemic stroke had lower risk and later onset of post-neonatal epilepsy, compared to seizures described in the setting of other perinatal brain insults. Our data have implications for counseling to the family at discharge from neonatal intensive care unit.
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Papers by Cinzia Peruzzi