Diagnóstico clínico imagenológico y evolutivo de leucodistrofia, megaloencefalia y quistes subtemporales en la lactancia / Clinical-epidemiological and evolutive diagnosis of leukodystrophy, megalencephaly and subtemporal cysts during breastfeeding

Introducción: Las leucodistrofias primarias son un grupo de trastornos hereditarios que afectan la sustancia blanca cerebral de forma predominante. El término leucodistrofias primarias unifica las enfermedades que afectan las células gliales con compromiso de la mielina y el axón de base genética. Es un grupo de entidades, más de 30 en la actualidad, en expansión gracias a los avances en resonancia magnética y en genética. Objetivo: Contribuir al conocimiento de esta rara enfermedad con énfasis en la utilidad de su conocimiento clínico y en los estudios de imágenes evolutivos para el diagnóstico. Presentación del caso: Paciente con macrocranea detectada por la familia a los tres meses de nacida, al inicio refirieron que la circunferencia cefálica creció rápidamente y a partir del segundo semestre de vida el crecimiento se hizo más lento. La valoración clínica al año de edad comprobó una discreta dificultad para el control cefálico, intentaba dar pasos con apoyo, lenguaje de 3 a 4 palabras y ninguna otra afectación del neurodesarrollo. Al examen físico, una circunferencia cefálica de 55 cm (por encima de dos desviaciones estándar para la edad cronológica y sexo). Conclusiones: La evolución clínica favorable conjuntamente con el patrón de la resonancia magnética cerebral, que inicialmente mostró afectación de la sustancia blanca compatible con leucodistrofia inespecífica y en estudios evolutivos detecta presencia de quistes subtemporales, permitieron el diagnóstico de esta rara enfermedad infantil. La paciente recibió tratamiento sintomático para la espasticidad, apoyo pedagógico y control de sus crisis epilépticas(AU)

Introduction: Primary leukodistrophies are a group of hereditary disorders that affect in a predominant way the white substance of the brain. The term ´´primary leukodistrophies´´ unifies the diseases that affect the glial cells compromising myelin and the genetic based axon. They are a group of entities, more tan 30 nowadays, which are expanding due to the advances in magnetic resonance and genetics. Objective: To contribute to the understanding of this rare disease with emphasis in the usefulness of its clinical knowledge and in the evolutive studies of images for diagnosis. Case presentation: Female patient with macrocranea detected by the family at 3 months old. At the beginning, the family referred that the cephalic circumference grew quickly and from the second semester of life growing process was slower. The clinical assessment at first year of life proved a discreet difficulty for cephalic control; the patient tried to do support footsteps, and had a language of 3 to 4 words without any other affectation in the neurodevelopment. In the physical examination, she presented a cephalic circumference of 55 cm (higher than the two stantard deviations for the cronological age and sex). Conclusiones: The clinical evolution was favorable jointly with the pattern of brain magnetic resonance that initially showed affectation in the white substance compatible with inespecific leukodistrophy and in the evolutive studies it was detected the presence of subtemporal cysts which allowed to diagnose this rare children disease. The patient received symptomatic treatment for spasticity, pedagogical support and control of the epileptic crisis(AU)

Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.@*METHODS@#A comprehensive analysis including clinical investigation and genetic testing was carried out.@*RESULTS@#The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A.@*CONCLUSION@#Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.

Late Infantile-Onset Globoid Cell Leukodystrophy: Treatment using Hematopoietic Stem Cell Transplantation / 대한소아신경학회지

Globoid cell leukodystrophy is a rare autosomal recessive disorder of the brain white-matter caused by galactosylceramidase deficiency; the disorder is classified into four types based on the age of onset. Approximately 80–85% of patients have an early infantile form, while 10–15% has a late infantile form. Globoid cell leukodystrophy leads to a progressive neurological deterioration, and affected patients rarely survive more than 2–3 years. Although many different treatments have been investigated over several decades, further research is still needed. Hematopoietic stem cell transplantation is the standard treatment for globoid cell leukodystrophy. Here, we report a case of symptomatic late-infantile globoid cell leukodystrophy treated with stem cell transplantation. After transplantation, disease progression ceased and cognitive and motor function improved. And a 6 months follow-up study using brain magnetic resonance imaging showed white matter involvement was increased. After that, annual follow-up brain magnetic resonance imaging showed a stable status of disease.

ANÁLISIS DE LA β -GALACTOSILCERAMIDASA LEUCOCITARIA EN PACIENTES COLOMBIANOS CON SOSPECHA CLÍNICA DE ENFERMEDAD DE KRABBE, UN TAMIZAJE DE ALTO RIESGO / ANALYSIS OF β -GALACTOSILCERAMIDASE LEUKOCYTAL IN COLOMBIAN IN PATIENTS WITH SUSPECT CLINIC OF KRABBE DISEASE, A HIGH - RISK SCREENING / ANÁLISE DE β -GALACTOSILCERAMIDASE LEUKOCYTAL EM COLOMBIANO EM PACIENTES COM SUSPEITA CLINICA DA DOENÇA DE KRABBE, UMA BLINDAGEM DE ALTO RISCO HUMANOS PLACENTA

La Enfermedad de Krabbe (EK), es un desorden del metabolismo de esfingolípidos de herencia autosómica recesiva causada por la deficiencia de β-galactosilceramidasa (β-Galsil) (E.C. 3.2.1.46), defecto enzimático que causa un cuadro neurodegenerativo, hipertonía muscular y espasticidad, convulsiones, pérdida de la audición y en un 85% de los casos la muerte temprana, entre otros hallazgos. La incidencia de la EK documentada para Estados Unidos y Europa es de 1:100.000 recién nacidos, pero estudios recientes han demostrado valores mayores de 1:22.000 aproximadamente en New York. En América Latina los informes son escasos, con reportes de tamizaje de alto riesgo en Brasil y casos aislados en México, ofreciendo un panorama de subdiagnóstico importante, situación a la que no es ajena Colombia, donde no hay en la literatura referentes a la enfermedad. Se presenta entonces a la comunidad científica, un estudio de valores de actividad y de referencia para la enzima β-Galactosilceramidasa leucocitaria, a partir de 259 muestras de 110 individuos sanos y 149 pacientes con compromiso neurodegenerativo (CND). La valoración enzimática involucró dos métodos (Colorimétrico y Fluorométrico) de punto final que permitieron establecer un rango de referencia para β-Galsil en técnica Colorimétrica: 2,04-14,93 nmol/mgprot/h y en técnica fluorométrica: 0,3-4,21 nmol/mgprot/h. El estudio de tamizaje permitió identificar un paciente afectado con enfermedad de Krabbe quien presentó valores de actividad expresados en nmol/mgprot/h de 1,85 y 0,034, en forma correspondiente para las técnicas antes descritas. Un hallazgo final que permite validar los dos métodos estandarizados para el diagnóstico de la enfermedad y establecer valores de referencia en población colombiana.

Krabbe disease is a disorder of autosomal recessive sphingolipid metabolism caused by deficiency β-galactosylceramidase (β-Galsil) (EC3.2.1.46), an enzymatic defect that causes a hurt neurodegenerative, muscular hypertonia and Spasticity, convulsions, hearing loss and in 85% of cases early death, among other findings. The incidence documented for "Krabbe disease" in the United States and Europe is 1:100.000 newborns, but recent studies have shown values greater than 1:22.000 in New York. In Latin America, reports are limited, with reports of high-risk screening in Brazil and isolated cases in Mexico, providing an important underdiagnosis scenario, a situation that is not unknown in Colombia, where there is no literature on the disease. A study of activity and reference values for β-galactosylceramidase enzyme leukocytal, was then presented to the scientific community, from 259 samples from 110 healthy people and 149 patients with neurodegenerative compromise. The enzymatic evaluation involved two methods (Colorimetric and Fluorometric) that allowed the establishment of a reference range for β-Galsil in Colorimetric technique: 2.04-14.93 nmol/mgprot/h and in fluorometric technique: 0.3-4.21 nmol/mgprot/h. The screening study allowed the identification of a patient with Krabbe disease who presented activity values expressed in nmol/mgprot/h of 1.85 and 0.034, correspondingly to the techniques described above. A final finding that allows to validate the two standardized methods for the diagnosis of the disease and to establish reference values in Colombian population.

A doença de Krabbe é uma desordem do metabolismo de esfingolípidos autossômicos recessivos causada pela deficiência β-galactosilceramidase (β-Galsil) (EC 3.2.1.46), um defeito enzimático que causa uma neurodegenerativa relatório, hipertonia muscular e espasticidade, convulsões, perda auditiva e em 85% Dos casos de morte precoce, entre outros. A incidência da doença de Krabbe documentado para os Estados Unidos e na Europa é de 1:100.000 recém-nascidos, mas estudos recentes têm mostrado valores maiores do que cerca de 1:22.000, em Nova York. Na América Latina, os relatórios são escassos, com relatos de rastreio de alto risco no Brasil e casos isolados no México, proporcionando um cenário importante subdiagnóstico, a situação não é desconhecida em que a Colômbia, não há literatura Onde sobre a doença. Um estudo de atividade e valores de referência para a enzima β-galactosilceramidase leucocital, foi então apresentado comunidade científica, de 259 amostras de 110 indivíduos saudáveis e​ 149 pacientes com comprometimento neurodegenerativo. A avaliação enzimática envolveu dois métodos (Colorimétrico e Fluorométrico) que permitiram o estabelecimento de uma gama de referência para β-Galsil na técnica Colorimétrica: 2,04-14,93 nmol /mgprot/h e na técnica fluorométrica: 0,3-4,21nmol/mgprot/h. O estudo de triagem permitiu a identificação de um paciente com doença de Krabbe que apresentou valores de atividade expressados ​em nmol / mgprot / h de 1,85 e 0,034, correspondente ao das técnicas descritas acima. Uma conclusão final que valida os dois métodos padronizados para o diagnóstico da doença e estabelecer valores de referência na população colombiano.

Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate clinical and imaging features of a patient with adult-onset Krabbe disease and to detect the underlying genetic mutations.</p><p><b>METHODS</b>Clinical and cranial MRI features of the patient were analyzed. Pathogenesis, clinical manifestation, cranial MRI features and diagnostic criteria for the disease were discussed.</p><p><b>RESULTS</b>The patient had presented asymmetric limb weakness and difficulty in walking. Electromyography suggested peripheral nerve demyelination. Cranial MRI showed increased signal intensity in white matter with involvement of the corticospinal tracts. Screening of GALC gene mutation has found the patient to be heterozygous for T1685C (Ile562Thr) and homozygous for A1921G (Thr641Ala), both of which were considered to be polymorphisms. In addition, he was heterozygous for G136T (Asp46Tyr), which had not been described previously.</p><p><b>CONCLUSION</b>Clinical manifestations of adult-onset Krabbe disease may be atypical. Cranial MRI and galactocerebroside activity assay should be carried out for patients featuring chronic progressive corticospinal tract injury. An Asp46Tyr mutation probably underlies the disease in the current case.</p>

Krabbe disease: the importance of early diagnosis to prognosis / Doença de Krabbe: a importância do diagnóstico precoce para seu prognóstico

Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.

Doença de Krabbe (leucodistrofia de células globoides) é uma leucodistrofia de herança autossômica recessiva causada pela deficiência da enzima galactocerebrosidase. A falta dessa enzima leva ao acúmulo de galactolipídeos que irão promover a morte dos oligodendrócitos e a desmielinização do sistema nervoso central e periférico. Possui duas formas clínicas: de início precoce e de aparecimento tardio. O presente artigo relata um caso da apresentação tardia da doença de Krabbe e discute a importância do diagnóstico precoce para o seu prognóstico.

Enfermedad de Krabbe. A propósito de un caso clínico / Krabbe's disease. Apropos of a clinical case

La enfermedad de Krabbe es una afección genética con mecanismo de herencia autosómico y recesivo de muy baja incidencia. Esta determinada por deficiencia en la actividad de la enzima lisosomal galactocerebrósido-ß-galactosidasa (o galactosilcerebrosidasa). Tiene diferentes formas clínicas: infantil, juvenil y de la edad adulta. En Uruguay las enfermedades genéticas son una causa importante de morbi-mortalidad. El reconocimiento por parte del pediatra de elementos clínicos en forma precoz, es clave en el diagnóstico oportuno. Se presenta el caso de una niña con la forma infantil de enfermedad de Krabbe cuyas manifestaciones clínicas se iniciaron a los 7 meses de vida y el diagnóstico se confirmó a los 10 meses por dosificación de la actividad galactocerebrósido-ß-galactosidasa. El objetivo de esta comunicación es jerarquizar el reconocimiento oportuno de las manifestaciones clínicas, revisar los conocimientos actuales en relación al diagnóstico, incluyendo el diagnóstico prenatal, en vistas al asesoramiento genético.

Clinical Manifestations of Leukodystrophies: A Single Center Study

PURPOSE: Leukodystrophies have been defined as inherited metabolic disorders of myelin resulting in abnormal development or progressive destruction of the white matter. This study was performed to investigate the clinical manifestations and treatments of leukodystrophies in a single Korean tertiary center. METHODS: We retrospectively analysed the medical records of patients who had been diagnosed with leukodystrophy from May 1995 to May 2010 at the Asan Medical Center. RESULTS: During the 15-year study period, 36 cases of leukodystrophies were diagnosed with an verage age at symptom presentation of 49 months. Prominent symptoms at presentation were developmental delay (41%) and seizure (25%); however, nystagmus, developmental regression, hearing loss, gait disturbance, visual disturbance, attention deficit, hypotonia, hyperpigmentation, and hemiparesis were also observed. On MRI, periventricular involvement was noted frequently. The most common diagnoses were adrenoleukodystophy (25%), metachromatic leukodystrophy (11%), Krabbe disease (11%), and Pelizaeus-Merzbacher disease (8.3%). No final diagnosis was made in 14 cases (41%). Bone marrow transplantation was performed in 4 patients and showed favorable prognoses. CONCLUSION: Clinical features of leukodystrophies are not specific to diagnosis and most leukodystrophies remain undiagnosed; however, a logical algorithm based on prevalence could aid the laboratory testing. Because early detection and diagnosis is crucial for treatment and prognosis, it is important to have a high index of suspicion and watchful screening of familial history.

A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation

Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase(GALC) gene. The deficiency of GALC activity leads to the accumulation of psychosine, resulting in apoptosis of myelin-forming cells of the central and peripheral nervous system. The patients with typical infantile onset Krabbe disease have extreme irritability, developmental regression, spasticity, and seizures with an onset prior to six months of age. These children usually die within two years after birth. We report a female infant who showed the characteristic clinical manifestations, disease course, and neuroimaging features of infantile onset Krabbe disease that was confirmed by the identification of a compound heterozygous mutation of the GALC gene.

Diagnóstico de leucodistrofia de Krabbe por microscopia electrónica de transmisión: informe de un paciente / Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy: case report

La leucodistrofia de Krabbe es una enfermedad rara en México, por este motivo se reporta un caso de una niña de 11 años. Se describen los estudios ultraestructurales de biopsia de nervio sural. Las vainas de mielina fueron muy delgadas. El citoplasma de las células de Schwann contenía estructuras no membranosas y estructuras en forma de agujas parcialmente curvilíneas de longitud variable. Las inclusiones a menudo tenían material electrodenso o electrolúcido. Estas características representan a la leucodistrofia de Krabbe. Los estudios ultraestructurales ayudan al diagnóstico en los casos en que no se dispone de estudios genéticos o técnicas especiales de laboratorio. En la paciente descrita el diagnóstico de enfermedad de Krabbe se estableció tardíamente de acuerdo con el inicio de los síntomas. El diagnóstico de leucodistrofia de Krabbe se puede evidenciar con el estudio de microscopia electrónica de nervio sural.

Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a moderate dilatation with non-membrane masses with partly curvilinear, needle-shaped structures of variable length. The inclusions often had electron-dense or electron-lucent halos. These inclusions ultrastructurally represented Krabbe's leukodystrophy, and this method aids in the diagnosis in cases that are not available for genetic studies or special laboratory techniques. In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy.

Krabbe disease--a case report.

Krabbe disease is an extremely rare condition with an incidence of 1 in 1,00,000 live births. It is caused by deficient activity of the Iysosomal hydrolase galactosylceramide beta-galactosidase. A 6 years old male weighing 12 kg, was brought to Rajah Muthiah Medical College and Hospital with complaints of convulsions. The full-term child was delivered by lower segment caesarean section to second-degree consanguineous parents. The baby cried immediately after birth. The child attained normal milestones till two years of age. Thereafter he lost his attained milestones. The child had dysmorphic face with features like anti-Mongoloid eyes and teeth anomaly. Skin was lax all over the body especially over the face and was bruised. Respiratory distress and upward gaze were present. Bilateral crepitations were heard. Pupils were dilated and sluggishly reacted to light.

Leukodystrophies: Indian scenario.

The leukodystrophies are familial disorders with onset usually in infancy or childhood. The clinical features consist of motor dysfunction with varying degree of cognitive decline. Magnetic Resonance Imaging (MRI) has helped to identify and characterize these disorders. In some leukodystrophies, biochemical enzymatic and genetic defects have been identified. The commonest leukodystrophy seen in India is Megalencephalic Leukodystrophy with subcortical cysts. The essential features consist of large head, mild pyramidal and cerebellar dysfunction, and occasional seizures. MRI studies show extensive white matter changes with temporal cysts. It is common in the Agarwal community in India. An identical mutation in exon 2 of the MLC 1 gene has been identified in this community suggesting a founder effect.

Late-onset Krabbe's Disease (Globoid Cell Leukodystrophy): A case report

Krabbe's disease is a rare autosomal recessive disorder characterized by hemiplegia, paraplegia, ataxia, cortical blindness, and peripheral neuropathy. This disease is caused by deficiency of the lysosomal enzyme galactocerebroside beta-galactosidase(GALC), resulting in demyelination of white matter of brain and peripheral nerve. We reported a 38-year-old female developed a slowly progressive weakness of lower extremities and gait disturbance since age of 10. Neurological examination revealed spastic weakness of both lower extremities, hyperactive deep tendon reflexes and intrinsic muscle atrophy of both hands and feet. Electrophysiologic study showed uniform demyelinating sensorimotor peripheral neuropathy. T2-weighted brain MRI (magnetic resonance imaging) findings revealed symmetric high signal intensity along the bilateral corticospinal tract. The diagnosis of Krabbe's disease was confirmed by finding of markedly reduced GALC activity in leukocyte. We recommended to consider Krabbe's disease in the diagnosis of patients affecting both central and peripheral nervous system.

Sphingolipidoses / 한양의대학술지

Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is available. Their course and appearance, however, are usually characteristic and, together with relevant technical procedures such as magnetic resonance imaging (MRI), clinical neurophysiology, ophthalmologic examination, etc., a provisional diagnosis can be made, after which enzymatic diagnosis can close the gap in the diagnostic process. Subgroups of sphingolipidoses are grouped together, such as disorders with prominent hepatosplenomegaly (Niemann-Pick A, B and Gaucher disease) and disorders with central and peripheral demyelination (metachromic leukodystrophy and Krabbe disease). Farber disease and Fabry disease are unique in themselves. The last decade has seen hopeful progress in therapeutic strategies, especially for Gaucher disease. Therefore, emphasis of this review has been placed on these new developments.

A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside beta-galactosidase Gene (GALC)

Krabbe disease is an autosomal recessive disorder involving white matter caused by deficient activity of the lysosomal galactocerebrosidase (GALC). A typical infantile-onset patient shows developmental regression, spasticity, and seizure before 6 months of age, and dies within 2 years. Previously, one case was confirmed by an enzyme test in Korea. We herein report a 2 year-old girl who showed the characteristic clinical course and neuroimaging features of infantile-onset Krabbe disease. Genetic testing identified the compound heterozygote mutations in the GALC gene; NLWE212_215TP/302A.

A Case of Krabbe Disease

Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nerve system due to an enzymatic defect of galactocerebroside bata-galactosidase. The patient had typical clinical features of Krabbe disease, with irritability, hypertonicity, failure to thrive, and opisthotonic posturing. A brain MRI demonstrates profound white matter demyelination. The diagnosis of Krabbe disease is suspected on the basis of clinical pictures and confirmed by finding markedly reduced galactocerebroside bata-galactosidase activity in leukocyte or cultured fibroblast. Here we present the first reported case of Krabbe disease in Korea confirmed by decreased activity of galactocerebroside bata-galactosidase enzyme in leukocyte.

Krabbe disease--clinical profile.

OBJECTIVE: To study clinical features and investigations of children with Krabbe Disease (KD). DESIGN: Retrospective. SETTING: Genetic Clinic of a tertiary care teaching hospital. METHODS: Hospital records of patients with enzymatically confirmed KD were analyzed with respect to their clinical features and investigations including neuroimaging (CT-scan and/or MRI). Galactocerebrosidase (GALC) activity was estimated photometrically in the peripheral blood leukocytes. RESULTS: Nine children (age ranging from 2 1/2 months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late infantile form and one was diagnosed as juvenile KD. GALC levels in peripheral blood leukocytes were low or absent in all. Most of the children with infantile disease presented with neurodegeneration, seizures or fever. Optic atrophy was uncommon in our series (present only in a single case). Majority of the cases had elevated cerebrospinal fluid (CSF) protein levels and peripheral neuropathy on nerve conduction (NC) studies. Findings typical of KD were noted in 7 patients who underwent magnetic resonance imaging (MRI). The sole patient with juvenile disease presented with developmental delay and progressive spastic quadriparesis. CONCLUSION: Krabbe disease should be considered in the differential diagnosis of early infantile onset of neurodegeneration with seizures. Likewise, older children with progressive ataxia or spastic quadriparesis in whom the etiology remains obscure, must be investigated for Krabbe disease. MRI can be diagnostic in absence of availability of enzyme diagnosis.

Doença de Krabbe - relato de caso / Krabbe's disease - case report

Objetivo: relatar um caso de doença de Krabbe com estuto de necropsia. Métodos: Revisão de prontuários e laudos de necrópsia. Resultados: Paciente masculino, 8 meses, apresentou tremores de extremidades, dificuldade para de deglutição e salivação excessiva há 4 meses, evoluindo com vômitos e picos febris noturnos. O exame físico demonstrou microcefalia e dispersão pigmentar difusa da retina. Ao exame neurológico, evidenciou-se flexão e hipertonia espástica dos membros superiores, com abdução dos polegares, hiperreflexiaa simétrica generalizada com sinal de Babinski bilateral, nistagmo relatório, bem como espasmos espontâneos. O exame eletroencefalográfico demonstrou atividade irritativa multifocal. Houve ainda proteinorraquia com aumento da gamaglobuna. O paciente evoluiu com hipertermia transitória, vômitos e pneumopatia, indo a óbito no 23§ dia de internação. A necrópsia demonstrou microcefalia com encéfalo apresentando giros alargados. Microscopicamente evidenciaram-se numerosas células globóides na porção profunda da substância branca, gliose nacianal e desmielinização. Conclusões: Estes achados foram semelhantes aos da literatura mundial, indicando um prognóstico sombrio devido a lesões cerebrais substanciais