Cerebral palsy and gut functions.
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Cerebral Palsy↗
Biomedical subjects
E Del Giudice
Publications and source records attributed to E Del Giudice.
Cisapride in neurologically impaired children with chronic constipation.
The efficacy of cisapride as a treatment for chronic constipation in children with severe brain damage was studied in 20 children. Each subject was randomly assigned to double-blind treatment with either cisapride (N = 10) or placebo (N = 10) for 12 weeks. Stool habits, total gastrointestinal transit time, colonic segmental transit times, and anorectal motility were evaluated in all children before and at the end of the treatment period. Although cisapride significantly (P < 0.05) increased stool frequency from baseline to week 12 and no significant change was documented in the placebo group, the mean change in stool frequency per week from baseline to 12 week was not significantly different between the two treatment groups. The use of laxatives or suppositories was significantly (P < 0.05) decreased by cisapride, but remained unchanged in the placebo group. Furthermore, cisapride significantly (P < 0.05) reduced rectal compliance but had no effect on total gastrointestinal transit time and colonic segmental transit times. In summary, in neurologically impaired children with chronic constipation, cisapride increased bowel frequency but did not alter the delay in total and segmental gastrointestinal transit times.
Brain Damage, Chronic↗
Diabetes mellitus in Kearns-Sayre syndrome: a case with a 10-year follow-up.
An 11-year-old girl with Kearns-Sayre Syndrome developed diabetes mellitus with ketoacidosis at onset and immediate insulin-requirement. In a 10-year follow-up, while neuromuscular disease was progressively increasing, diabetes was well controlled by once-a-day insulin therapy. Insulin secretion appears low, but without impairment during the years. This case points out the diabetes' features in Kearns-Sayre syndrome.
Age of Onset↗
Colonic transit and anorectal manometry in children with severe brain damage.
OBJECTIVE: This study was conceived to determine the physiologic abnormalities in distal gastrointestinal motility that are responsible for constipation in brain-damaged children. DESIGN: Colonic transit and anorectal manometry were evaluated in 16 children with severe brain damage and constipation (mean age +/- SD; 5.1 +/- 3.5 years) and the results were compared with findings in 15 age- and sex-matched children with functional fecal retention and normal mental development. Anorectal motility findings also were compared with those from 11 asymptomatic children. The progress of radiopaque markers, as determined by sequential plain abdominal radiographs, was used to evaluate segmental colonic transit times. RESULTS: In children with brain damage, colonic transit was prolonged at the level of left colon in 18.8% of the patients, at both left colon and rectum in 56.2%, and at rectum only in 25%. These findings differed (P < .05) from those in children with functional fecal retention wherein transit was prolonged in the left colon and rectum in 20% of the patients and the rectum only in 80%. By anorectal manometry, no significant intergroup differences were detected in anal pressures and in the anorectal motor responses to rectal distention. The rectal compliance in children with severe brain damage was similar to the asymptomatic controls, whereas children with functional fecal retention had increased rectal compliance. CONCLUSIONS: This study shows that colonic transit abnormalities in both the left colon and rectum may be responsible for constipation in children with severe brain damage.
Anal Canal↗
Unusual seizures with a benign course in a case of acute lymphoblastic leukemia of childhood.
We report the unusual seizures in a patient with acute lymphoblastic leukemia. The convulsive disorder began acutely as partial somatomotor status epilepticus and with diffuse EEG slowing. The seizures then became myoclonic-atonic (drop attacks) and an EEG focus appeared on the left paramedian centro-parietal areas, activated by proprioceptive stimuli. Despite the severity of the clinical picture at onset, the seizures showed a benign course, and disappeared on carbamazepine therapy. We think that this epileptic syndrome may have been caused by diffuse iatrogenic encephalopathy, probably related to intrathecal methotrexate therapy.
Carbamazepine↗
Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome.
We have observed in two different families two pairs of male siblings born from normal, non-consanguineous parents having the same syndrome, characterized by severe cerebral white matter hypoplasia, agenesis or extreme hypoplasia of the corpus callosum, mental retardation, failure to thrive and minor midline facial abnormalities. This seems to be a previously unreported genetic syndrome.
Abnormalities, Multiple↗
Upper gastrointestinal tract motility in children with progressive muscular dystrophy.
Gastric emptying was evaluated in 15 children (mean age, 8.0 years) with progressive muscular dystrophy to detect early gastrointestinal smooth muscle involvement; 10 of the children also underwent esophageal manometry. Clinical evidence of skeletal muscle dysfunction was minimal in 14 of the 15 patients; 10 of them had no gastrointestinal symptoms. Gastric emptying studies were performed by using 500 muCi of technetium 99m-sulfur colloid bound to a scrambled egg, and scintigraphic measurements were made continuously for 60 to 90 minutes. Gastric emptying studies and manometric tracings were compared with those from 11 children (mean age, 8.4 years) without gastrointestinal or muscular disorders. Mean (+/- SD) percentage retention of gastric isotope was significantly greater in patients with muscular dystrophy than in control subjects. No differences were found between the two groups in distal esophageal motility or in upper and lower esophageal sphincter pressures or relaxation. Contraction amplitudes in the upper portion of the esophagus, however, were significantly lower in patients with myopathy than in control subjects. These data suggest that dysfunction of smooth muscle of the upper gastrointestinal tract is detectable in children with muscular dystrophy early in the course of the disease, even when gastrointestinal symptoms are absent and skeletal muscle symptoms are minimal.
Adolescent↗
Vaccination against hepatitis B in preschool children with Down's syndrome.
Twenty-nine healthy HBsAg- and HBsAb-negative children with Down's syndrome who were living at home (mean age 42 months; 19 M, 10 F) were vaccinated against hepatitis B virus either with recombinant DNA or plasma-derived vaccine. Both groups of children responded well to the vaccination schedules, with HBsAb seroconversion rates close to 100%. Vaccination against hepatitis B in preschool children with Down's syndrome is effective in spite of the existing abnormalities of the immune function.
Child, Preschool↗
Disorders of oesophageal motility in children with psychomotor retardation and gastro-oesophageal reflux.
A group of 25 children affected by different degrees of psychomotor retardation (severe (n = 13); mild-moderate (n = 12)) and symptoms suggesting gastro-oesophageal reflux (GOR) underwent oesophageal manometry and oesophageal pH monitoring. Of these patients, 21 (84%) were affected by GOR. In all children with severe brain damage and GOR (12/13), oesophageal manometry showed marked motility abnormalities that persisted after cure of GOR. In patients with minor retardation and GOR (9/12), oesophageal manometry showed normal motility or a less severe degree of oesophageal motor dysfunction which improved after curing the GOR. These results suggest that oesophageal motor dysfunction is a frequent occurrence in children affected by severe psychomotor retardation and GOR.
Brain Damage, Chronic↗
Megalocornea and mental retardation syndrome: two new cases.
We report on 2 patients with the Neuhäuser megalocornea-mental retardation syndrome, a recessively inherited clinical entity of relatively recent description (McKusick 24931). A review of the few previous reported patients and our 2 patients shows that megalocornea and mental retardation are the 2 minimal diagnostic criteria. Short stature, seizures, neurological symptoms, microcephaly or macrocephaly, and minor anomalies are all additional nonobligatory manifestations. The small number of published cases may be due to the fact that the association of these two signs has often escaped attention until now.
Child↗
Primary cerebral neuroblastomas.
Two children with primary cerebral neuroblastomas are reported and the other cases from the literature are reviewed. Cerebral neuroblastomas are a distinct pathological entity, which differs from other neuroectodermal tumours, although the clinical features are aspecific. The review of the CT findings shows that neuroblastomas appear as large solid tumours in half of the cases and as cystic lesions in the other half; massive contrast enhancement, calcification and cystic hypodensity are typical CT features. The importance of a radical operation and radiotherapy is stressed. The long-term prognosis is better for the cystic forms; also neuroblastomas seem to have a longer survival than other primitive neuroectodermal tumours.
Brain Neoplasms↗
Short fourth metacarpal in homocystinuria.
Homocystinuria due to cystathionine synthase deficiency is an autosomal recessive multisystem disease which affects the eye, the cardiovascular system, the central nervous system, the skeleton and occasionally other organs. Archibald's metacarpal sign and Kosowicz's phalangeal sign were evaluated in 11 patients with homocystinuria. A short fourth metacarpal was demonstrated in four patients. Our study represents, to our knowledge, the first systematic evaluation of these skeletal signs in a rather large group of homocystinuric patients.
Adolescent↗
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia.
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Biopsy↗
Raman spectroscopy and order in biological systems.
The Raman spectra in the low 5-200 cm-1 frequency region of metabolically active E. coli cells have been analyzed to determine whether they are indicators of a possible in vivo underlying order by applying standard concepts derived from the Raman spectroscopy of crystalline systems with varying degrees of order. The analysis suggests that in-vivo space-time ordered structures involving amino acids associated with DNA exist since the low frequency lines of metabolically active cells can be assigned to lines seen in the spectra of crystals of given amino acids known to associate with DNA early in the lifetime of a cell.
Amino Acids↗
Unexplained bilateral occipital calcification and reduced vision.
An eight year-old girl, investigated because of convulsions, was found to have isolated bilateral presumably cortical and subcortical calcification, reduced visual acuity and prolonged visual evoked response latencies. There were no clinical manifestations of a phakomatosis.
Calcinosis↗
[Bone changes in homocystinuria in childhood].
Homocystinuria due to cystathionine synthase deficiency is an autosomal recessive error of sulphur amino acid metabolism characterized clinically by lens dislocation, mental retardation, skeletal abnormalities and thromboembolic phenomena. We have evaluated roentgenologically our series of 12 pediatric homocystinuric patients to detect skeletal abnormalities. Bone changes are widespread and occur mainly in dorsolumbar spine and in epi-metaphyseal growth areas. Osteoporosis is the most important finding. Dolichostenomelia and arachnodactily are relatively common. Calcific spicules occur frequently in the wrist physes.
Adolescent↗
Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
Nineteen homocystinuric patients--13 children and 6 adults--were identified in the course of a selective screening for homocystinuria due to cystathionine synthase deficiency. Treatment with high doses (300-1200 mg/day) of pyridoxine was carried out in 17 patients, of whom 15 were completely responsive. In 10 patients EEG abnormalities were observed consisting mainly of a mild diffuse non specific slowing of background activity. In two sisters, with no history of seizures, focal paroxymal activity was also recorded. EEG recordings before and after B6 treatment were available in 16 patients, one of whom was a non responder, during treatment seven normal and six abnormal EEGs showed no change whereas three previously abnormal EEGs were classified as normal.
Adolescent↗
Prolonged Q-T interval syndrome presenting as idiopathic epilepsy.
We report the case of a 4 1/2-year-old girl admitted to our Hospital because of repeated tonic convulsions. These attacks were triggered by noxious stimuli as well as by emotional stress. Since patient's history was not typical of idiopathic epilepsy, and several electroencephalograms failed to reveal any abnormality, a cardiac basis for the clinical picture was suspected. Resting electrocardiograms and 48-hour ECG recording showed a prolonged Q-T interval, usually responsible for severe cardiac arrhythmias (e.g., ventricular fibrillation or "torsades de pointe"). In our patient the neurologic paroxysmal symptomatology, wrongly considered as idiopathic epilepsy, should be interpreted being due to the underlying cardiac abnormality.
Arrhythmias, Cardiac↗