Lygia Ohlweiler

Pediatric neurotoxocariasis with concomitant cerebral, cerebellar, and peripheral nervous system involvement: case report and review of the literature

Objective: To alert pediatricians to the neurologic consequences of toxocariasis and to describe the first pediatric case of neurotoxocariasis with concomitant cerebral, cerebellar and peripheral nervous system involvement. Description: We report a case of neurotoxocariasis in a previously healthy 5-year-old boy with unusual symptoms and multi-site involvement of both the central and peripheral nervous system. Differential diagnoses are discussed and the relevant literature is reviewed. Since the early 1950s, fewer than fifty cases have been described, mostly in adult patients. Comments: Although human toxocariasis is one of the most common zoonotic helminth infections, neurotoxocariasis is a rare condition, especially in pediatric patients. Although toxocariasis usually presents as a self-limiting disease with no central nervous system involvement, when it does occur, it can be devastating. Neurotoxocariasis should be added to the differential diagnosis of pediatric patients with unusual neurologic symptoms accompanied by high levels of eosinophils in the cerebrospinal fluid. Early diagnosis and treatment can prevent long-term neurologic sequelae.

Cerebrovascular disease in pediatric patients.

Although rare in childhood, stroke may have a serious impact when it happens in this stage of life. Also, it may be the first sign of a systemic disease. We report 12 cases of patients with stroke treated in the Neuropediatrics Unit of Hospital de Clínicas de Porto Alegre (HCPA) from March 1997 to March 2000. All patients, from term infants to 12-year-old children hospitalized in the Pediatrics Unit of HCPA, had clinical suspicion of stroke, which was later confirmed by radiological studies. Patient follow up ranged from 1 to 6 years (mean = 3.4 years). Presenting symptoms were hemiparesis in 9 patients, seizures in 7, deviation of labial commissure in 3, and loss of consciousness in 1. The increase in the number of cases of childhood stroke identified and later confirmed by noninvasive methods had helped in the determination of different ethiologies of stroke: the most frequent being hematologic, cardiac and genetic diseases. However, our study included 6 newborns with stroke whose ethiology was not identified. Seven children with seizures received phenobarbital. Six term infants had neonatal seizures secondary to stroke and restricted to the first 72 hours of life.Doenca cerebrovascular isquemica (DCVI) e rara na infância, mas quando ocorre, o impacto pode ser muito serio. Pode ser a primeira manifestacao de uma doenca sistemica. Relatamos a ocorrencia de 12 casos de DCVI. Foram diagnosticados e tratados no Hospital de Clinicas de Porto Alegre (HCPA) na Unidade de Neuropediatria de marco de 1997 a marco de 2000. Todos os casos com suspeita clinica de DCVI foram confirmados por avaliacao radiologica de recem-nascidos de termo (RNT) a criancas ate 12 anos de idade, que internaram na Unidade de Pediatria do HCPA. Eles foram acompanhados de um a seis anos (media 3,4 anos). Os sintomas iniciais foram: hemiparesia em 9 pacientes, convulsoes em 7, desvio da comissura labial em 3 e perda da consciencia em um. O aumento do reconhecimento de DCVI em criancas, auxiliado pela confirmacao do diagnostico atraves de exames nao invasivos, tem auxiliado na identificacao da etiologia. As etiologias mais frequentes foram doencas hematologicas, cardiacas e geneticas. Contudo, nosso estudo mostrou 6 recem-nascidos com DCVI em que nao foi identificada etiologia. Sete criancas com convulsoes usaram fenobarbital. Em seis RNT com DCVI as convulsoes estiveram restritas as primeiras 72 horas de vida.

Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: Report of two cases

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.

Parachute and lateral propping reactions in preterm children

A non-controlled, prognostic cohort study was performed with the aim of establishing markers of neurological development and defining a clinical and epidemiological profile of preterm newborns at 3, 6, 9, and 12 months of gestation-corrected age in terms of parachute and lateral propping reactions. Newborns with gestational age of up to 36 weeks and 6 days, weighing 2,000 g or less at birth, were included in the study At 6 months of age, parachute and lateral propping reactions were present in 8.1% of the patients. At 9 months, the parachute reaction was present in 87.5%, and the lateral propping reaction was present in 90% of the children. It was possible to assess parachute and lateral propping reactions in preterm children in the first year of life. Alterations in trunk-limb coordination may be evidenced in the 1st year of life through postural reactions, which are maintained as prematurity markers until school age.

Treatment of refractory neonatal seizures with topiramate.

OBJECTIVE The objective of this study is to describe the usefulness of topiramate in refractory neonatal seizures. RESULTS We reported the clinical off-label use of topiramate in three cases of refractory neonatal seizures of unclear origin with no response to conventional antiepileptic drugs. In all cases, the seizures were completely controlled with adding topiramate. All patients became seizure free during hospitalization and were followed by approximately 1 year after hospital discharge, with monotherapy with topiramate. COMMENTS The clinical off-label use of topiramate in neonatal seizures is still incipient. When searching publications in this matter, only one report was identified. Because of its efficacy for both seizures and neuroprotection, topiramate could be a useful choice in refractory neonatal seizures.

Vigabarina no tratamento da epilepsia de difícil controle em pacientes com síndrome de West e esclerose tuberosa

PURPOSE To report the efficacy of vigabatrin in seizures control, as well as the electroencephalographic abnormalities in children with tuberous sclerosis and West syndrome. METHOD Retrospective study, with clinical, neuroimaging, and electroencephalographic data. RESULTS Seven patients were followed, and the median time of follow-up was 10 years. Four of them were females and all were white. The mean age of seizures onset was 3.4 months. All patients used antiepileptic drugs associations, at least 2 drugs each therapeutic scheme, each one of the patients have used at least two different schemes. Vigabatrin as monotherapy or adjuvant was started in a mean age of seven years or 4 years after the onset of symptoms. Five from seven patients on vigabatrin became seizure free. CONCLUSION Vigabatrin was efficient in seizures control, leading to a better prognosis.

Evolutional neurologic evaluation of seven year-old children born prematurely

A sample of 51 children aged 7 with a history of prematurity was compared to 44 age-matched children who were born at term at the HCPA. The premature children had had gestational ages up to 37 weeks and 6 days and were born weighing less than 2,500 g. The control group consisted of children born with gestational age between 38 and 42 weeks and weights above 2,500 g. The evaluation criteria were clinical examination, neurological examination and the evolutional neurological evaluation (ENE). The results pointed out that impulsiveness, aggressiveness, disorganization and enuresis were prevalent symptoms of developmental disturbances in the sample of prematures. Alterations at neurological examination did not discriminate between the two groups, although cerebral palsy occurred only in the group of prematures. The ENE functions which differentiated the two groups studied were dynamic balance, appendicular and trunk-limb coordination and motor persistence.

Optic nerve enlargement and leukodystrophy : an unusual finding of the infantile form of Krabbe disease

Pediatric Neurology Unit, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre RS, Brazil; Genetic Department, HCPA; Medical Genetic Service, HCPA; Professor of the Genetic Department, HCPA; Neuroradiology Department of Hospital Moinhos de Vento, Porto Alegre RS, Brazil; Pediatric Neurologist, Head of the Pediatric Neurology Unit, HCPA. Adjunct Professor, Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil; Pediatric Neurologist, Adjunct Professor, Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil. Leukodystrophies are a heterogeneous group of inherited neurological disorders characterized by progressive demyelination that causes loss of motor, sensory and intellectual functions leading to a fatal outcome. These disorders result from dysfunctions in myelin metabolism as a consequence of genetic enzymatic defects specific to each leukodystrophy subtype. Krabbe disease (KD), also called globoid cell leukodystrophy (GCL), is inherited in an autosomal recessive pattern and has an estimated incidence of 1 in each 100,000/200,000 live births. It affects the peripheral and central nervous system (CNS). We report on two cases of the infantile form of KD and describe MRI findings that suggest optic nerve enlargement (ONE).

Post‐H1N1 vaccine acute disseminated encephalomyelitis

Acute disseminated encephalomyelitis (ADEM) is a rare autoimmune demyelinating disorder of the central nervous system (CNS) that affects mainly children. Typically it happens after an infection and rarely after vaccination, with compromise of the white matter of the brain and/or spinal cord, characterized by a rapid development of encephalopathy in combination with multifocal and extremely varied neurological deficits. Brain and spinal cord magnetic resonance imaging (MRI) show disseminated demyelization in the CNS. Cerebrospinal fluid (CSF) examination can demonstrate unspecific alterations. We report the case of a previously healthy 8-year-old boy, who had fever, headache and somnolence 12 days after the first dose of vaccine against influenza H1N1. There was no previous history of infection or other vaccines in the previous 30 days, as well as no evidence of ongoing influenza H1N1 infection. The CSF was a crystalline fluid with 45 leukocytes/μL with 100% monocytes, glucose 62 mg/dL, and proteins 27 mg/dL. No infectious pathogens were identified in the blood or in the CSF. The patient had clinical seizures controlled with i.v. diazepam, became aphasic, and developed left hemiparesis. Electroencephalogram indicated slowing background activity with multifocal spikes and one electrographic seizure, after which i.v. phenytoin was initiated. He was transferred to the intensive care unit (ICU) due to coma and necessity of mechanical ventilation and did not have metabolic abnormalities. He was discharged from ICU with residual neurologic deficits, such as aphasia, paresis of extrinsic ocular muscles and ataxia. Brain MRI was compatible with ADEM (Fig. 1). Spine MRI showed no lesion. I.v. methylprednisolone pulse therapy (30 mg/kg per day) was given for 5 days, followed by 4 weeks of oral prednisone (2 mg/kg per day). The patient was discharged from hospital after 30 days. During follow up, a complete remission of symptoms occurred. According to the World Health Organization, in 2009 approximately 40 countries started national campaigns of vaccination against influenza A. Nearly 80 million doses of H1N1 vaccine were distributed and 65 million people were vaccinated. In this sense, rigorous surveillance of side-effects is necessary to establish the vaccine safety. ADEM usually occurs after unspecific viral upper respiratory airway infection. Only 5% are post-vaccine cases, more frequently after vaccination against measles, rubella and mumps. Only two case reports of ADEM after vaccine against H1N1 have been identified on publication database search. Obviously, vaccines are considered safe and provide one of the most cost-effective treatments. Vaccination campaigns have prevented thousands of deaths and disabling consequences, allowing the eradication of some diseases. In contrast, the worrying side-effects, although rare, must be promptly described in order to prevent undesirable events. Even recognizing that this is a description of a single case as well as that the causal association between this vaccine and the neurological alterations could not be totally proved, to our knowledge this paper represents the third description of a case of ADEM identified after H1N1 influenza vaccine. In the present case, early identification and treatment of ADEM were sufficient to ensure complete neurological recovery.

MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy

Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil: MD, Child Neurologist; MD, Geneticist; Ph.D. Child Neurologist, Pediatric Neurology Residency Program Preceptor; Ph.D. Child Neurologist, Adjunct Professor of Pediatrics, Head of Pediatric Neurology Unit. The Neuhauser syndrome was first described in 1975. Three siblings in the same family and four other sporadic patients were found to have severe mental retardation, hypotonia, seizures, megalocornea (cornea diameter ≥13 mm) and hypoplasic irises, associated with minor dysmorphic findings, such as epicanthal folds, frontal bossing and depressed nasal bridge. Neuhauser suggested a possible recessive autosomal inheritance and called the condition MMR syndrome (megalocornea and mental retardation). Since then, several other cases with similar signs and symptoms were reported in the literature, although some also had different and additional clinical findings . For example, Tominaga et al. described hearing impairment; Balci et al. reported two cases of Neuhauser syndrome with hypoplasia of corpus callosum; Yarar et al. found associated Peter’s anomaly; and Margari et al. cited a transient hypothyroidism during a five year follow up of one case of Neuhauser syndrome. In 1990, Frydman et al. described two patients with the MMR syndrome who had macrocephaly, and called this variation of the Neuhauser syndrome as the MMMM (macrocephaly, megalocornea, motor and mental retardation) syndrome. In 1991, Kimura et al. described a patient with the MMR syndrome associated with hypothyroidism and myelination delay confirmed by cranial magnetic resonance studies. Other findings described in the literature are bifid uvula, diffuse cortical atrophy, micrognathia, scoliosis, short stature, microcrania, hypertelorism, and hypotonia. The heterogeneity of this syndrome led Verloes to suggest 5 subtypes: Subtype 1: a recessive form, as described by Neuhauser, with iris hypoplasia and minor anomalies; Subtype 2: a recessive form, as described by Franky-Temtay, with camptodactyly, scoliosis and growth retardation; Subtype 3: a recessive form, with normal irises, severe hypotonia, relative or absolute macrocephaly and other minor anomalies; Subtype 4: a possible Frydman type, with normal irises, macrocephaly and obesity; Subtype 5: provisionally unclassifiable cases. The objective of this study is to describe a case of Neuhauser-type dysmorphism with refractory epileptic seizures.