Norovirus gastroenteritis and seizures: an atypical case with neuroradiological abnormalities.

We describe an 8-year-old boy admitted because of prolonged seizures during norovirus gastroenteritis without any signs of encephalopathy. Blood tests were normal and cerebrospinal fluid examination resulted negative for both bacteria and viruses. A reverse transcriptase polymerase chain reaction revealed norovirus RNA in a stool sample. A cerebral computed tomography turned out to be normal whereas subsequent cerebral magnetic resonance imaging showed transitory signal abnormalities consistent with vasogenic edema. The post-ictal electroencephalogram revealed normal background activity with sporadic left posterior delta waves. The child was discharged after 10 days with an unremarkable physical examination. A cerebral magnetic resonance imaging and an electroencephalogram after 1 month were both negative. We report a new case of benign infantile convulsions due to norovirus gastroenteritis with neuroradiological abnormalities to the pertinent literature in order to improve knowledge about this disorder and increase the possibility of clarifying its pathogenesis.

Hemiconvulsion-hemiplegia-epilepsy syndrome: early magnetic resonance imaging findings and neuroradiological follow-up.

We describe a case of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome documented by longitudinal magnetic resonance imaging (MRI). A two-year and nine-month-old boy had a prolonged hemiconvulsion during fever followed by right hemiparesis. Seven days later the imaging abnormality on T2 and diffusion-weighted images (DWI) was limited to the white matter of the left hemisphere. One month later severe gliosis and unilateral brain atrophy were already evident. MRI is useful in the early stages of prolonged seizures and T2 and DWI abnormalities appear to be well correlated with parenchymal damage that results from sustained ictal activity. The neuroradiological findings in our case and in the few HHE patients reported in the literature seem to be very characteristic and, if confirmed in larger series, could permit an early diagnosis.

Development of language in 18-30-month-old HIV-1-infected but not ill children.

Thirty-six children (age range, 18-30 months) born to HIV-1-infected mothers were studied for speech development by matching 18 infected with 18 non-infected subjects for age, sex and socioeconomic status. All the children were in good health. Each child was given three comprehension and three production tasks. In addition, each child's mean length of utterance (MLU) was obtained by observation of natural child-parent interactions. The development quotients (DQ) were assessed by Brunet-Lézine's tests. Infection significantly affected children's MLU, the infected children being less advanced than those non-infected. Both infected and non-infected children progressed in language acquisition from the second to the third year of age, but infected children had significantly greater production difficulty than non-infected children in the second year of life. The matched subjects design adopted gives some strength to the conclusion that HIV-1 infection impairs the genesis rather than the later development of language in infected but not ill children.

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.

A 7-month-old boy died in a demented state after a clinical history characterized by generalized seizures, psychomotor deterioration, and fumaric aciduria. We found a marked deficiency of both mitochondrial and cytosolic fumarases in skeletal muscle, brain, cerebellum, heart, kidney, liver, and cultured fibroblasts. Fumarase activities were 30 to 50% compared with controls in both mitochondria and cytosol from cultured fibroblasts of the parents. Antifumarase cross-reacting material was present in negligible amounts in the patient's tissues. Our data indicate that this disease is an autosomal recessive encephalopathy, due to a single mutation affecting the gene encoding both forms of the enzyme.

Primary lymphoma of the central nervous system in two children with acquired immune deficiency syndrome.

Postmortem examination disclosed central nervous system non-Hodgkin's lymphoma in two children who died of acquired immune deficiency syndrome (AIDS) at 6 and 14 months of age, respectively. Systemic signs of lymphoma were not present. The B-cell origin and clonality of the neoplastic cells were established by immunohistochemistry in one case and by molecular analysis of immunoglobulin gene rearrangement in the other. Moreover, in the latter case the neoplastic cells were characterized by the presence of a single episomal EBV genome. According to these data, the monoclonal B-cell proliferation occurred after EBV infection, thus suggesting a possible pathogenetic role of EBV in the early stages of lymphomagenesis.

Acute quadriplegic myopathy in a 17-month-old boy.

Acute quadriplegic myopathy is a rare condition associated with the use of nondepolarizing muscle-blocking agents and corticosteroids in the course of severe systemic illness. A 17-month-old boy underwent liver transplantation for fulminant hepatitis. He was intubated for 24 days and treated with vecuronium bromide and high-dose methylprednisolone. The child was weaned from the ventilator and presented extreme weakness in the upper limbs and total paralysis of the lower limbs. Serum creatine kinase level was normal and electromyography showed myopathic abnormalities. Muscle biopsy showed severe type-1 fiber atrophy and selective loss of myosin thick filaments was seen on electron microscopy. Scattered regenerating fetal myosin-positive fibers were present, mu calpain was absent, while m calpain was diffusely expressed. Physical therapy was immediately started and the child recovered even though corticosteroids were not discontinued. The pathogenesis of acute quadriplegic myopathy is still unknown. We suggest that it could be due to abnormal protein turnover in the muscle. Several independent factors, such as corticosteroid treatment, immobilization, or cytokines, could take part in a cascade of events that leads to an excessive yet selective degradation of proteins involving myosin thick filaments and possibly components of sarcolemma, causing muscle inexcitability.

Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility.

At the age of 41 and 31 months, respectively, a boy and a girl affected by neurofibromatosis-1 were diagnosed with a visual pathway glioma during surveillance contrast-enhanced head magnetic resonance imaging (MRI). In the first child, the initial MRI showed that the entire optic chiasm, the intracranial tract of the left optic nerve, and hypothalamus were grossly enlarged and enhanced in the post-gadolinium T1-weighted images. Ten months later, the hypothalamic component of the lesion had regressed markedly and there were no more areas of contrast enhancement. In the second child, the initial MRI showed that the optic chiasm, the right optic tract, and geniculate body were enlarged and enhanced after gadolinium injection. At 6-month follow-up, the MRI showed that the right optic tract and the anterior aspect of the optic chiasm decreased in size and the contrast enhancement of the entire lesion was reduced dramatically. These findings, as indicated by other similar reports, confirm that spontaneous regression of visual pathway glioma is a rare but real possibility in children with neurofibromatosis-1. Therefore, clinicians need to be aware of visual pathway glioma's erratic behavior in children with neurofibromatosis-1 with special attention given to the importance of a very conservative attitude toward any type of treatment for such patients.

Benign paroxysmal torticollis of infancy.

Benign paroxysmal torticollis is an episodic functional disorder of unknown etiology that occurs in the early months of life in healthy individuals. The child's head tilts to one side for a few hours or days, usually without any associated symptoms. The disorder, which disappears within the first few years of life, is often misinterpreted and the patient pointlessly undergoes numerous tests. We present our series of 22 patients observed at the pediatric neurology outpatients clinic in Padova with a view to refreshing the pediatrician's memory on this frequent, benign pathology.

Benign paroxysmal vertigo of childhood.

Benign paroxysmal vertigo of childhood (BPV) is a paroxysmal, non-epileptic, recurrent event characterized by subjective or objective vertigo that occurs in neurologically intact children. We recorded the history and the clinical aspects of 19 cases presenting with neurological problems to the outpatient clinic at the Pediatrics Department of Padova University between 1987 and 1998 and re-examined in 1999. Details were collected on the characteristics of their vertigo: age at onset, mode of onset, trigger factors, duration, frequency and recurrence of episodes, duration of symptoms in time and age at disappearance. An attempt was also made to establish any family history of migraine and kinetosis and the most important data were compared, when possible, with those reported in the literature. Differential diagnosis and pathogenetic hypothesis were also reported. It is worth emphasizing that it is important for pediatricians to be aware of these benign events to ensure a correct diagnostic approach, avoiding the child and family any pointless anxiety or costly and sometimes invasive diagnostic procedures.

Macrocephaly and chromosome disorders: a case report.

We report the case of a young patient with macrocephaly. After excluding the most frequent causes of macrocephaly (hereditary disorders, degenerative, osseous and metabolic diseases, neurocutaneous syndromes and cerebral malformations), the likelihood of a chromosome disorder was investigated, revealing an unbalanced de novo translocation: 46,X,der(X),t(X;7) (q13 or q13.2; q11.23 or q21.11), i.e., a partial trisomy of the long arm of chromosome 7, associated with a partial monosomy of the long arm of chromosome X. Though this chromosome disorder is relatively rare, it should be considered in the differential diagnosis of patients under one year of age presenting with macrocephaly, scoliosis and non-progressive psychomotor retardation.

Intracranial hypertension and cryptococcal meningitis in a girl with AIDS.

A girl with HIV infection acquired at birth by blood transfusion, was admitted at the age of 10 years for diplopia, vomiting, headache and papilledema. CT scan was negative. A lumbar puncture revealed clear CSF, protein 0.40 g/l, glucose 2 mmol/l, 5 mononuclear cells/mm3. The Indian ink preparation and the latex agglutination antigen test were positive for Cryptococcus n. Treatment with amphotericin B and flucytosine was started. After 10 days, since the in vitro susceptibility testing of the isolates showed resistence to both drugs, fluconazolo (400 mg/day) was started. Acetazolamide, furosemide and spironolactone were then added to the antifungal therapy for the persistence of severe intracranial hypertension. Diuretics were maintained for 10 weeks. The patient returned to school two and half months after the admission to the hospital. After 19 months, she is doing well and she is on maintenance of fluconazole (200 mg/day). We hypothesized that the increased intracranial pressure would be due to an impaired CSF reabsorption probably as a consequence of a direct cryptococcal infiltration of the villi.

Neonatal tuberous sclerosis presenting with intractable seizures.

A 2-day old girl with status epilepticus, unresponsive to maximum pharmacological intervention, is reported. Findings of brain and cardiac lesions pointed to the diagnosis of tuberous sclerosis. One of the brain lesions was unusually large, occupying most of the right temporo-parietal lobe.

Multicystic encephalomalacia associated with symmetrical necrotizing brain stem lesions in an infant: a case report.

The simultaneous occurrence of multicystic encephalomalacia of the cerebral hemispheres, and symmetric necrotizing lesions of diencephalic and infratentorial structures is described in a 15 month-old infant. The baby developed clonic jerks of four limbs a few hours after delivery. She attained no developmental milestones, and remained bed-ridden with hypertonic posture until her death. Multicystic cavities of the cerebral hemispheres were well evident at CT scan when she was 7 months old. The topographic distributions of the different pathological pictures are described; their relationship to the regional properties of the developing brain are commented upon. Etiological aspects of this case are discussed according to present knowledge of the pathophysiological mechanisms leading either to multiple cyst formation or to necrotizing lesions.

The use of antibiotics in the treatment and prevention of infection in HIV-infected children.

Children with HIV infection have an unusual susceptibility to bacterial infection, related to several immune abnormalities. Selection of initial antibiotic therapy must be individualized in these children. Patients with community-acquired disease are most likely to have infection by polysaccharide-encapsulated bacterial organism, most commonly Streptococcus pneumoniae and less frequently by Haemophilus influenzae type b. If it is possible to treat the patients at home, the use of amoxicillin-clavulanic acid might be appropriate. Other authors propose management with parenteral ceftriaxone because of the better compliance and the malabsorption. In hospitalized patients, concern for Gram-negative enteric pathogens other than polysaccharide-encapsulated organisms requires initial therapy with a third-generation cephalosporine in combination with an aminoglycoside. Trimethoprim-sulfamethizole is the most common drug used in HIV-infected children because it is recommended for the initial therapy and for prophylaxis of pneumocystis carinii pneumonia, which occurs in as many as 42% of these children.

[Juvenile osteomyelitis and osteopetrosis. A case report]. / Osteomielite e osteopetrosi infantile. Descrizione di un caso.

A case of mandibular osteomyelitis in a child affected by osteopetrosis is presented. Systemic antibiotic therapy was ineffective and surgery was required to obtain a partial control of infection.

[Epidemiology of cerebral palsy in children]. / Epidemiologia delle paralisi cerebrali infantili.

Cerebral palsy is not a simple clinical or even aetiological entity, nevertheless is a chronic disability characterized by aberrant control of movement or posture appearing early in life. As for as incidence and prevalence studies are concerned, comparison of studies of age--specific prevalence rates is made difficult by differences in definition, methods and parameters used for medical evaluation. The epidemiology of CP is very important in the defining the entity of the problem, the need for facilities and services. The need for a current and perhaps continuing national statistical survey of the incidence and prevalence of CP is stressed.

[Rett syndrome: clinical aspects and EEG for an early diagnostic assessment]. / Sindrome di Rett: aspetti clinici ed EEG per un precoce inquadramento diagnostico.

Clinical and EEG findings have been analysed in six patients with Rett syndrome with a mean follow-up of 3 years and 9 months. After reviewing the diagnostic criteria for inclusion, which are essentially clinical, we emphasize two aspects which have been shortly considered in the literature: a) epileptic seizures, b) peculiar differential characteristics between primary autism and the Rett syndrome behaviour. Moreover, we underline the importance of serial EEG poligraphic records for early diagnosis.

[Moya-moya syndrome. Progression of the angiographic picture and therapeutic prospectives]. / La sindrome di moya-moya. Progressività del quadro angiografico e prospettive terapeutiche.

Moya moya is an obstructive cerebrovascular disease characterised by peculiar cerebral angiographic features consisting of intracranial stenosis or occlusion of the internal carotid artery or its terminal branches associated with telangiectatic vessels at the base of the brain. Opinion is still divided between a congenital versus an acquired aetiology. Recurrent episodes of sudden hemiplegia, headache and convulsive manifestations occur more frequently in paediatric patients, while subarachnoid bleeding is usually the presenting finding in adults. After a progressive course for many years, the disease frequently stabilizes sometimes with residual disability. Surgical approach to improve cerebral blood flow has been developed but there is a high incidence of complications in pediatric patients. To minimize the defects during ischemic phase, a pharmacological therapy might be useful. We report a new case of childhood moya moya disease which developed a typical angiographic progressive pattern during three years between the first and the latest bilateral study. Clinical course of patient suggest that antiaggregating drugs and calcium antagonists might be useful in this disease although controlled studies are of course needed.

[Benign intracranial hypertension in infants]. / L'ipertensione endocranica benigna nel lattante.

B.I.H. or Pseudotumor is rare in children particularly under the first year of age. In addition, the syndrome at this age presents some peculiarities as compared with the adult form. This report describes the authors' experience with patients aged 4 to 12 months. Bulging fontanelle was the presenting symptom in all. Papilledema, strabismus, were present only in 1 case and vomiting in 4. Treatment was limited to lumbar puncture which was initially performed to rule out an acute CSN inflammatory process. In 8 patients the syndrome was precipitated by medications (sulfenazone - nalidixic acid); 3 had a prior history of 3 days of fever and roseola infantum, in 2 cases precipitanting factors were not found. Since the prompt remission of the intracranial hypertension (24 to 96 hours) neuroradiological investigations were not performed.

[Torticollis and neck tumors: presentation of a case]. / Torcicollo e tumori cervicali: presentazione di un caso.

Stiff neck in children is a quite frequent sign of various pathological processes, not always benign in nature. Here is referred the case of a extradural cervical tumor in which stiff neck, associated with nucal rigidity, was for a long time the only symptom of the underlying process. The association of cervical tumor with stiff neck as the only longlasting initial symptom has only sporadically been reported. The authors analyse the various causes of stiff neck from the clinical and anatomo-pathological viewpoints, including age of patient at onset.