Anna Maria Laverda

Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program

We evaluated the visual outcome of a cohort of children with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG) treated according to standardized therapeutic guidelines. The study population consisted of all consecutive patients with NF1 and OPG referred to a specialized pediatric neuro-oncology program between 1994 and 2004. Treatment was instituted only in cases of progressive disease or clinical deterioration. Treatment modalities were chemotherapy (based on vincristine/carboplatin) for children younger than 5 years and radiotherapy for all others. Ten boys and 10 girls (seven with a positive family history) entered the trial (median age at diagnosis of OPG, 29 months). At a median follow-up time of 78 months, seven patients had been treated with chemotherapy only, four with radiotherapy, and four with chemotherapy plus radiotherapy. Five patients were observed only. Currently, 18 are alive and two have died. Eight patients were treated for progressive visual loss in the face of stable disease, five for tumor volume increase without visual deterioration, and two for symptomatic tumor volume increase. At referral, six children had a visual acuity (VA) of < 30% in both eyes; eight children had 100% VA bilaterally. At referral, the visual field (VF) could be assessed in three children: One had VF loss in both eyes, one had VF loss in one eye, and one had normal VF. At last follow-up, eight children had VA < 20% in both eyes; only two children had 100% VA in both eyes. Among 11 children who had some visual function, three had VF loss in one eye and three in both eyes, and five had an intact VF. Contrast and color sensitivity were abnormal in seven and six patients, respectively. Thirteen children fell into the WHO hypovision category. In summary, among the 15 children treated, one had a definitive and two a mild improvement in VA. In conclusion, the visual outcome of this selected cohort of NF1 patients with OPG is unsatisfactory. A critical reappraisal of the therapeutic strategy adopted is needed.

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance

To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal‐infantile seizures (BFNIS), and benign familial infantile seizures (BFIS).

Fatal Naegleria fowleri meningoencephalitis, Italy.

We report the first case of primary amebic meningoencephalitis in Italy, in a 9-year-old boy. Clinical course was fulminant, and diagnosis was made by identifying amebas in stained brain sections and by indirect immunofluorescence analysis. Naegleria fowleri was characterized as genotype I on the basis of polymerase chain reaction test results.

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.

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 childs 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 pediatricians memory on this frequent, benign pathology.

Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis

Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients presented here, a 20-month-old Italian female and a 4-year-old Moroccan female, is that the initial presenting neurological symptoms mimicked an encephalitis, anticipating the typical systemic symptoms by 1 and 4 months. They developed progressive encephalopathy accompanied by status epilepticus, one child developed a secondary hydrocephalus. In both children it was not possible to detect an underlying infection or malignant disease and there were no other cases in the family that suggested a familial form of HLH. Diagnosis and initiation of treatment was delayed because of the initial encephalopathic clinical picture and the late onset of the typical systemic features. As early diagnosis allows better therapeutical approaches, haemophagocytic lymphohistiocytosis should be considered in children with persistent or progressive findings of encephalopathy, especially in the absence of identification of a plausible pathogen.

Multimodal neuroimaging in a child with sporadic hemiplegic migraine: A contribution to understanding pathogenesis

Background: Hemiplegic migraine (HM) is a rare variety of migraine with aura, characterized by motor deficits during the aura, often beginning in childhood. The hemiplegic attacks can be severe and prolonged but the prognosis is usually good. Data on neuroimaging, including diffusion-weighted imaging (DWI) and spectroscopy, during prolonged attacks of HM are quite limited, particularly in children. Case: An eight-year-old female had a prolonged attack of sporadic HM characterized by right-sided hemiplegia, global aphasia, fever and impairment of consciousness. MRI nine hours after hemiplegia onset was negative, while the following MRI scans (days 4 and 11) documented a progressive increase in cortical swelling in the left hemisphere with mild hyperintensity on DWI and mild reduction of apparent diffusion coefficient values. Proton MRI spectroscopy (MRS) (day 15) showed a decrease in the N-acetylaspartate/creatine ratio in the left hemisphere. 99mTc-ECD single-photon emission tomography (SPET) (day 27) showed marked left hemispheric hypoperfusion. The patient recovered completely after 40 days and neuroimaging follow-up (MRI and SPET) after six months was normal. The patient carried a missense mutation of the ATP1A2 gene. Conclusion: Multimodal neuroimaging (MRI, DWI, MRS, SPET) in a prolonged HM attack supports evidence for a primary neuronal dysfunction.

A Delayed Methadone Encephalopathy: Clinical and Neuroradiological Findings

Several studies on opiates demonstrated that selected brain areas as cerebellum and limbic system have the greatest density of opioid receptors. Recently, few cases of severe cerebellitis following methadone poisoning have been reported in children. We present the case of a 30-month-old girl who developed a delayed encephalopathy after methadone intoxication. She was admitted to our emergency department in coma, and after naloxone infusion, she completely recovered. Five days after intoxication, she developed psychomotor agitation, slurred speech, abnormal movements, and ataxia despite a negative neuroimaging finding. A repeat magnetic resonance imaging (MRI) performed 19 days after the intoxication for persistent symptoms showed signal abnormalities in the temporomesial regions, basal ganglia, and substantia nigra. To our knowledge, this is the first report of these delayed MRI findings associated with synthetic opioid intoxication.

Genetics and mathematics: FMR1 premutation female carriers

Neuropsychological investigations of FMR1 premutation carriers without FXTAS present one domain resulting in contradictory findings, namely that of mathematical skills. One reason for this might be that standard clinical batteries used so far may be inadequate to uncover precise deficits within specific mathematical skills. In fact, these batteries do not clearly distinguish between specific mathematical abilities and are therefore likely to provide only a generic indication of a deficit. Mathematical skills in a group of females with FMR1 premutation were investigated through the use of an extensive, theoretically grounded battery of mathematical tasks, encompassing counting, number comprehension, numerical transcoding, calculation skills and arithmetic principles. Moreover, the mental representation of numbers was assessed by studying the Spatial Numerical Association of Response Codes (SNARC) effect and mental number line (MNL) bisection. The FMR1 premutation group (N=18) comprised 29-50 years old women of normal intelligence, who were individually matched on age, sex and education to a group of healthy participants (N=18). Specific yet subtle weaknesses were detected on processes of basic number understanding such as dealing with analogue scales and certain aspects of number transcoding, in the presence of otherwise spared calculation abilities.

Spinal Cord Infarction Due to Fibrocartilaginous Embolization: The Role of Diffusion Weighted Imaging and Short-Tau Inversion Recovery Sequences

Fibrocartilaginous embolization is a rare cause of ischemic myelopathy caused by embolization of intersomatic disk nucleus pulposus into spinal vasculature during Valsalva-like maneuvers. Diagnostic criteria are based on patient’s clinical history, magnetic resonance evidence of T2-hyperintense spinal cord lesion, and exclusion of other causes of ischemic myelopathy. These criteria do not take into account the development of magnetic resonance techniques able to enhance signal abnormalities within the neighboring intersomatic disc or vertebral body and to early characterize central nervous system lesions according to the presence of cytotoxic edema. We present 2 pediatric cases of progressive paraplegia attributed to fibrocartilaginous embolization in which short-tau inversion recovery and diffusion-weighted imaging sequences played a pivotal role showing the ischemic nature of spinal cord lesions. Due to its specificity, diffusion-weighted imaging should be included in the magnetic resonance criteria of fibrocartilaginous embolization and in standard magnetic resonance analysis when dealing with acute transverse myelopathy.