Central nervous system tuberculosis in non-HIV-positive children: a single-center, 6 year experience.

PURPOSE: The aim of this paper is to describe the imaging features of central nervous system (CNS) tuberculosis on computed tomography (CT) and magnetic resonance imaging (MRI) studies in non-HIV-positive children. MATERIALS AND METHODS: A retrospective descriptive evaluation was conducted on imaging studies obtained from ten children admitted to our hospital over a 6-year period who fulfilled criteria for a diagnosis of CNS tuberculosis. Data were collected with regard to patients' clinical, laboratory and demographic characteristics, as well as results of radiological investigation. RESULTS: We studied ten children, of whom five were boys and five were girls and whose mean age was 4 (range 7 months to 16) years. Neuroradiological findings on the first imaging study were basal meningeal enhancement (100%), hydrocephalus (70%), infarcts (90%), tuberculomas (40%) and cranial nerve involvement (20%). Follow-up studies revealed basal meningeal enhancement, hydrocephalus, and infarcts in all patients, tuberculomas in 70% and cranial nerve involvement in 50%. Only one patient showed a pattern of miliary tuberculosis. CONCLUSIONS: CNS tuberculosis is still an important cause of childhood morbidity and mortality even in nonimmunosuppressed children. Because prompt diagnosis results in earlier treatment, it is crucial to be aware of tuberculous meningitis and its complications at imaging, especially because of the impact on patients' prognosis.

Childhood refractory focal epilepsy following acute febrile encephalopathy.

BACKGROUND: We describe a group of previously normal children who developed severe focal epilepsy after an acute/sub-acute illness resembling encephalitis. METHODS: This is a retrospective study. An acute phase (encephalitis/encephalopathy period) and a chronic phase (chronic focal resistant epilepsy) were defined. RESULTS: Eight patients were enrolled. The median age at onset was 6.6 years (range 8 months-17.6 years). In the acute phase, fever was the first symptom in all cases and was associated with seizures and status epilepticus. All patients had focal seizures arising in both hemispheres. Seizure onset occurred in the frontal and temporal regions. EEGs showed slowing background activity associated with focal or diffuse slow waves with rare epileptiform abnormalities. Cerebrospinal fluid oligoclonal bands were observed in four out of six patients tested. MRI images showed bilateral peri-insular hyperintensity in four cases. Five patients received corticosteroids, and in four cases, they were given along with intravenous immunoglobulins. The median duration of the acute phase was 19 days (range 15-30 days). During the chronic phase, which followed the acute phase without interval, patients presented with drug-resistant focal seizures and neuropsychological deficits, which ranged from hyperactivity and attention deficits to short-term verbal memory deficit, pervasive developmental disorders, and language delay. CONCLUSION: Considering the clinical presentations, EEG findings, and the associated occurrence of non-specific immunological activations, a possible immune-mediated pathogenesis can be hypothesized, although firm conclusions cannot be drawn out.

A solution based on melatonin, tryptophan, and vitamin B6 (Melamil Tripto©) for sedation in newborns during brain MRI.

INTRODUCTION: Melatonin has been studied and used for several years as a sleep-wake cycle modulator in patients with sleep disorders. Experimental evidence has demonstrated the multiple neuroprotective benefits of this indoleamine secreted by the pineal gland. Melatonin is also used in neurological investigations, for its ability to induce sleep in children. In fact, it favors falling asleep during electroencephalogram, Magnetic Resonance Imaging (MRI), and during brainstem auditory evoked potentials. Previous studies are focused on infants and children. No investigation have been performed in neonates, before or during instrumental assessments. MATERIAL AND METHODS: One hundred ten newborns (term and preterm) undergoing brain MRI were enrolled in the study. Thirty minutes before the planned time for the examination, we administered a single dose solution of melatonin- tryptophan-vitamin B6. Twenty minutes after the initial administration of 2 mg, a second dose of 1 mg was administered, if the baby was still awake. If after further 15 min the baby was still not sleeping, an additional dose of 1 mg was administered. RESULTS: In 106 patients we obtained adequate sedation without adverse events, allowing us to perform an adequate quality MRI, with a median time of 25 min to reach sleeping. Only in three patients MRI could not be performed. In patients having a large weight, higher doses of melatonin were necessary to reach sleeping. Considering the pro kg dose of melatonin, the average dose that induced sleepiness in neonates was 0,64 ± 0.16 mg/Kg. CONCLUSION: A solution based on Melatonin- tryptophan-vitamin B6 can be a helpful sedative to administer to neonates undergoing brain MRI, avoiding the use of anesthetics and achieving adequate assessments.

Cortical maldevelopment in congenital cytomegalovirus infection transmitted by a woman with preexisting immunity.

Although cytomegalovirus (CMV) congenital infection is more severe in children born to women with primary infection, neurological symptoms have also been observed in infants born to mothers with preconceptional immunity. The authors describe for the first time a case of severe cortical development disorder associated with multiple abnormalities of the white matter, occurring in the second-born child of a woman found to be positive for anti-CMV immunoglobulin G (IgG) before pregnancy. CMV DNA was detected in the urine and blood of the infant. These findings indicate that the neurological outcome of CMV infection may be severe also in infants born to women with preexisting immunity.

Double cortex. A neuronal migration anomaly as a possible cause of Lennox-Gastaut syndrome.

Band heterotopia, or "double cortex," is a neuronal migration disorder that consists of a symmetrical subcortical neuronal band. The overlying cortex may be normal or macrogyric. We describe two severely mentally retarded girls, aged 14 and 18 years, who had band heterotopia and Lennox-Gastaut syndrome. Band heterotopia was evident in both hemispheres as a subcortical symmetrical layer isointense with gray matter on magnetic resonance T1- and T2-weighted images. Both patients had atonic seizures, atypical absences, and tonic seizures. The electroencephalograms in both cases showed frequent generalized paroxysms and slow background activity. The association of a Lennox-Gastaut syndrome with double cortex in these two patients and in a previously reported autopsy-confirmed case suggests that this malformation may be responsible for other similar cases.

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome. The most consistent neurologic finding was spastic paraparesis, seen in five of the eight patients. However, all showed signs of pyramidal tract involvement. A broad spectrum of pathogenetic mutations (including missense, nonsense, splice site, insertion, and deletions) were identified in the ORNT1 gene.

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.

OBJECTIVE: To describe clinical and neuropathologic studies and linkage analysis on two sisters with a severe form of leukodystrophy. METHODS: A detailed study was performed on the second sister. Genotyping markers for chromosome 3, including eight additional markers surrounding the vanishing white matter (VWM) locus, were used. RESULTS: During the first year of life, two sisters developed a severe neurologic condition after an intercurrent infection. It was accompanied by irritability and stupor with rapid loss of their motor abilities. Results of extensive metabolic studies were negative. Brain MRI showed severe and diffuse abnormalities of the encephalic white matter. Neuropathologic examination showed a severe lack of myelin with diffuse vacuolating white matter lesions in the brain, associated with an increased density of oligodendrocytes and a reduced number of astrocytes on morphometric analysis. In sharp contrast, the spinal cord white matter was preserved. The affected sibpairs shared a common haplotype for a broad region in chromosome 3. They were homozygous between markers D3S1565 and D3S3669, including the VWM locus. CONCLUSIONS: This condition is an unusual variant of childhood ataxia with diffuse central hypomyelination (CACH)/VWM, with characteristic shrinking and perivascular clustering of astrocytes. Haplotype analysis suggests that this variant is allelic to the VWM locus located on chromosome 3q27.

X-linked congenital ataxia: a clinical and genetic study.

We report on a family in which two males are affected with X-linked congenital ataxia (XCA). Clinical manifestations include severe hypotonia at birth, delay of early motor development, slow eye movements, and nonprogressive cerebellar ataxia. The neurological examination excluded a neuromuscular disease, mental retardation, and pyramidal tract involvement. Neuroimaging showed global cerebellar atrophy in both patients that was not evident in the first years of life. The clinical findings in this family are very similar to those in a Russian pedigree [Illarioskin et al., 1996: Ann Neurol 40:75-83] and outline a recognizable phenotype. Linkage studies in our family, using 28 highly polymorphic Généthon microsatellite markers evenly distributed along the X chromosome, excluded a 24 cM interval between DXS990 and DXS424 located within the previous candidate region of 54 cM, reducing the critical interval.

Cranial ultrasonography in maple syrup urine disease.

We performed serial cranial ultrasonography in four newborns affected by maple syrup urine disease. Symmetric increase of echogenicity of periventricular white matter, basal ganglia (mainly pallidi), and thalami was detected in the acute stage. The degree of ultrasonography abnormalities paralleled the clinical course of the disease.

On the use of pediatric phantoms in the dose evaluation during computed tomography (CT) thorax examinations.

This paper presents the dosimetric results obtained during computed tomography (CT) thorax examinations, carried out using two different techniques, i.e., sequential CT (SQCT) and helical CT (HECT). The radiological examinations have been carried out on pediatric phantoms expressly designed and realized. Four different phantoms have been realized, according to the children shapes of 0, 2, 6, and 12 years old. The dosimetric measurements have been carried out using thermoluminescent dosimeters. The comparison of the dosimetric data obtained using the two different techniques shows that there is not any relevant difference between them as far as the entrance dose and the doses received by the critical organs are concerned.

Neurofibromatosis type 1 presenting with hand dystonia.

Neurofibromatosis type 1 is frequently associated with increased intensity T2-weighted magnetic resonance imaging (MRI) brain abnormalities, called "unidentified bright objects." Unidentified bright objects are generally held to be benign and tend to decrease in size during adulthood. We describe a case of neurofibromatosis type 1 with a similar thalamic and subthalamic MRI abnormality associated with contralateral hand dystonia. Over a 2-year follow-up, the lesions showed a reduction in size apparently correlated with a reduction in symptoms.

Spinal dysraphism detected by magnetic resonance imaging in patients with anorectal anomalies: incidence and clinical significance.

Though the concept of caudal regression, suggested in 1961 by Duhamel, could explain the association between anorectal anomalies (ARA) and spinal dysraphism (SD), its real incidence may be underestimated and its clinical significance is debatable. From 1988 to 1993, 111 patients with ARA were treated at the authors' institution. Associated anomalies were present in 36% of cases, with the exception of vesicoureteral reflux, which was considered functional rather than anatomical. In view of the late (1 to 2 years after surgical treatment) onset of vesical dysfunction and/or orthopaedic symptoms in some of these patients, a screening protocol was started in 1991, using magnetic resonance imaging (MRI) in all patients with ARA. Fifty patients, 29 boys and 21 girls, underwent a spinal cord MRI, with pathological findings in 25 cases (50%), 13 boys and 12 girls. The authors did not find any significant difference in incidence with respect to high, low, or cloacal malformations. A thickened filum, with or without fibrolipoma, was the most frequent finding, but even tethered cord, syringomyelia, and sac morphological alterations were present. MRI was also able to detect osteoarticular and/or muscular anomalies. Even when a urodynamic study and a neurological and orthopaedic workup were performed in 20 patients undergoing MRI, the clinical significance of these findings remained unclear. However, accurate follow-up of these patients is mandatory in order to detect early neurological symptoms, because currently it is not advisable to refer for neurosurgery all the patients with ARA presenting with anomalies of the spinal cord.

The incidence of occult spinal dysraphism and the onset of neurovesical dysfunction in children with anorectal anomalies.

The urological malformations associated with anorectal anomalies (ARA) are not only anatomical, but also functional, the latter being related to congenital neurovesical dysfunction (NVD). The true incidence of spinal dysraphism (SD) in these children is still unclear and is probably underestimated. The concept of caudal regression could explain its association with the anorectal anomalies. Because of awareness of the late onset of neurovesical dysfunction and/or orthopaedic symptoms in some of our patients, in 1991 we started to screen with magnetic resonance imaging (MRI) the spinal cord of all patients with ARA. Eighteen (44%) out of 41 patients without neurological or orthopaedic symptoms and 7 (78%) of 9 children with neurological or orthopaedics symptoms screened by MRI showed pathological findings. The overall incidence of spinal dysraphism in ARA was 50%, without any great difference with respect to the type of the anomaly (high, low, cloacal). The pathological MRI findings encountered were: fibrolipoma (with or without a thickened filum terminale), tethering of the cord and syringomyelia, and sac anomalies. In order to check the onset of NVD in these children, we performed urodynamic studies with external sphincter electromyography in 24. Grouped by age: 14 were between 5 and 18 months and ten were 4 to 13 years old. Ten patients (71%) out of the first group and 3 (30%) out of the second had a normal urodynamic pattern. A total of 11 children had pathological findings; of these, 4 infants had a hyperreflexic bladder (one with detrusor-sphincter dyssynergia) suggesting upper motor neuron (UMN) lesion. Of the 7 older patients, two had UMN and 3 lower motor neuron (LMN) lesion.(ABSTRACT TRUNCATED AT 250 WORDS)

Dorsal brain stem syndrome: MR imaging location of brain stem tegmental lesions in neonates with oral motor dysfunction.

The anatomic extent of brain stem damage may provide information about clinical outcome and prognosis in children with hypoxic-ischemic encephalopathy and oral motor dysfunction. The aim of this study was to retrospectively characterize the location and extent of brain stem lesions in children with oral motor dysfunction. From January 2005 to August 2009, 43 infants hospitalized at our institution were included in the study because of a history of hypoxic-ischemic events. Of this group, 14 patients showed oral motor dysfunction and brain stem tegmental lesions detected at MR imaging. MR imaging showed hypoxic-ischemic lesions in supra- and infratentorial areas. Six of 14 patients revealed only infratentorial lesions. Focal symmetric lesions of the tegmental brain stem were always present. The lesions appeared hyperintense on T2-weighted images and hypointense on IR images. We found a strong association (P < .0001) between oral motor dysfunction and infratentorial lesions on MR imaging. Oral motor dysfunction was associated with brain stem tegmental lesions in posthypoxic-ischemic infants. The MR imaging examination should be directed to the brain stem, especially when a condition of prolonged gavage feeding is necessary in infants.

Parapharyngeal neuroglial heterotopia in Pierre Robin sequence: MR imaging findings.

Heterotopic neuroglial tissue is a rare lesion, occurring more frequently in the nasal cavities. Other rare locations are the orbit, the scalp, the palate, the pharynx, the parapharyngeal space and the lungs. They are usually detected occasionally because they are often asymptomatic, but sometimes they might present with dyspnoea, feeding difficulty, snorting and nasal flaring. Respiratory symptoms occur when heterotopic neuroglial tissue is located in the parapharyngeal space. We report a case of an infant affected by Pierre Robin sequence (PRS) who was admitted to our Institution for a worsening respiratory distress that was not explainable only by PRS.

MRI and 1H-MRS findings in early-onset cobalamin C/D defect.

OBJECT: Cobalamin C/D defect is an inborn error of cobalamin metabolism causing methylmalonic aciduria and homocystinuria. The early-onset form is characterized by severe neurological impairment. The aim of this study was to evaluate and monitor brain damage in early-onset cbl-C/D defect by conventional MRI and to assess the additional value of 1H-MRS. METHODS: We retrospectively examined serial MRI studies of 7 patients, performed on a 1.5 T system. Four patients had the first evaluation within the first 4 months of life and three later. The imaging protocol included spin-echo T1-weighted, T2-weighted, IR, and FLAIR. Five patients underwent 1H-MRS, using chemical shift imaging (CSI) in three patients and single voxel spectroscopy (SVS) in two. RESULTS: Three of the patients studied early showed tetraventricular hydrocephalus and diffuse swelling of supratentorial white matter with involvement of the "U" fibres. Two showed patchy cavitating lesions in the basal ganglia. White matter changes became evident at a later stage. In three cases 1H-MRS showed an abnormal peak of lactate in the basal ganglia or in the periventricular white matter. CONCLUSIONS: Our study shows severe heterogeneous brain MR abnormalities in cbl-C/D defect. We observed unusual basal ganglia lesions in 30 % of our cases and also found a high incidence of hydrocephalus and supratentorial white matter abnormalities.

[2 cases of bronchiectasis caused by an undiagnosed endobronchial foreign body]. / Due casi di bronchiettasie da corpo estraneo misconosciuto endobronchiale.

Two cases in which an unknown foreign body gave rise to bronchiectasia are culled from a series of 54 cases of endobronchial foreign bodies in children and discussed.

Memory load and latency in recognition of pictures.

Color photographs of common scenes were used as memory and test items in two memory search experiments. Memory load varied from 2 to 24 items in one experiment and from 4 to 64 in the other. Latency of classification of test items increased with memory load. The increase is verb' close to linear for loads up to six items, but for the full range of memory loads, it is negatively accelerated and approximately logarithmic. Sternberg's (1966, 1969) serial theory of memory search, which predicts linear functions, holds for small memory loads of pictures. If serial search takes place for large memory loads, the speed of search must be faster than for small loads. It is also possible that items in memory loads of all sizes are accessed by a single process that generates a negatively accelerated relation between size of load and latency.

Intestinal perforation in newborn following intrauterine meconium peritonitis.

A newborn infant, who had suffered intrauterine perforation and had developed peritoneal calcification, showed no sign of pneumoperitoneum on the first radiograph taken 3 hours after delivery. At that time air was present in the stomach only. Subsequently pneumoperitoneum developed as air passed down the gut to the point of perforation. Thus, the absence of pneumoperitoneum on a radiograph taken very early in life does not exclude an intestinal perforation.