Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? / 대한소아소화기영양학회지

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.

Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? / 대한소아소화기영양학회지

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.

Balo's concentric lesions with concurrent features of Schilder's disease in relapsing multiple sclerosis: neuropathological findings

Atypical inflammatory demyelinating syndromes are rare neurological diseases that differ from multiple sclerosis (MS), owing to unusual clinicoradiological and pathological findings, and poor responses to treatment. The distinction between them and the criteria for their diagnoses are poorly defined due to the lack of advanced research studies. Balo's concentric sclerosis (BCS) and Schilder's disease (SD) are two of these syndromes and can present as monophasic or in association with chronic MS. Both variants are difficult to distinguish when they present in acute stages. We describe an autopsy case of middle-aged female with a chronic history of MS newly relapsed with atypical demyelinating lesions, which showed concurrent features of BCS and SD. We also describe the neuropathological findings, and discuss the overlapping features between these two variants.

Balo's Concentric Sclerosis in a Patient with Previous Recurrent Optic Neuritis

Balo's concentric sclerosis is regarded as a rare variant of multiple sclerosis. Traditionally, Balo's concentric sclerosis was a post-mortem diagnosis, but the recent introduction of brain magnetic resonance imaging (MRI) scans may allow noninvasive access without biopsy. Brain MRI findings of Balo's concentric sclerosis is characteristic concentric configuration of alternating bands of white matter of different pathology, with relatively preserved myelination alternating with regions of demyelination in the cerebral white matter. We report a case of Balo's concentric sclerosis with recurrent optic neuritis.

Balo's Concentric Sclerosis Mimicking Cerebral Tuberculoma

Balo's concentric sclerosis (BCS) is considered a rare variant of multiple sclerosis, which often mimics an intracranial neoplasm or abscess. We report the case of a 21-year-old woman presenting with BCS while undergoing treatment for pulmonary tuberculosis. Initial brain magnetic resonance imaging (MRI) findings were similar to those for cerebral tuberculoma, multiple metastases, or abscesses. However, the pathognomonic concentric sclerosis characteristic of BCS was seen on MRI. The antemortem confirmatory diagnosis of BCS was made by follow-up MRI and a brain biopsy. It is suggested that BCS should be included in the differential diagnosis of cerebral tuberculoma, especially in developing countries with a high prevalence of tuberculosis.

Valproic acid-induced idiosyncratic liver injury in 4 cases / 中华儿科杂志

<p><b>OBJECTIVE</b>Children with refractory epilepsy who suffered from severe liver function impairment during valproic acid (VPA) treatment at routine dosage were studied. The clinical manifestations and therapeutic approaches were investigated in order to improve its diagnosis and management.</p><p><b>METHOD</b>Clinical information as well as features and management of 4 inpatients who were suffered from intractable epilepsy with severe liver function impairment induced by VPA since 2006 were collected and analyzed, including age of onset of epilepsy, VPA using age and the time when liver injury occurred, clinical manifestations, auxiliary examinations and management.</p><p><b>RESULT</b>Among the 4 cases, three were male and one was female. The admitted age ranged from 1 - 9 years and 1 month. The course of disease was 25 d - 6 months. They manifested as refractory epilepsy of epilepsia partialis continua which was difficult to control. After using VPA for 62 d (50 - 76 d), all developed severe impairment of liver synthetic function which was not related to the concentration of VPA. One was diagnosed with Alpers syndrome, two were suspicious of Alpers syndrome, and the other was diagnosed gliocytoma after brain biopsy. VPA was stopped immediately and symptomatic therapies were used. Other than that, intravenous injection of L-carnitine in 3 cases recovered the liver function.</p><p><b>CONCLUSION</b>VPA-associated severe hepatotoxicity can manifest first as impaired liver synthetic function. Besides alanin transaminase and aspartate transaminase, the liver synthetic function test is more important than monitoring of liver enzymatic functions in monitoring for the hepatotoxicity. Intravenous injection of L-carnitine in early stage showed good treatment effect.</p>

A Pathology-proven Case of Schilder's Disease

Schilder's disease or myelinoclastic diffuse sclerosis (MDS) is a rare variant of multiple sclerosis. We report a 66-year-old woman with progressive motor weakness and diffuse white matter degeneration on MRI, which satisfies the Poser's restrictive criteria of MDS. As previously reported cases of probable Schilder's disease did not meet the criteria correctly, we consider our patient is the first pathology-proven case of MDS in Korea.

Esclerose concêntrica de Baló: relato de caso / Balo's concentric sclerosis: case report

Objetivos: O caso descrito a seguir busca incentivar a suspeição do médicofrente a um provável diagnóstico de Esclerose Concêntrica de Baló (ECB). Métodos: Relato de caso associado à revisão da literatura científi ca a partir artigos publicados sobre o tema. Resultados: Há grande difi culdade na determinação da etiopatologia daECB, já que há amplas áreas de desmielinização do sistema nervoso central (SNC) que podem ser observadas em várias doenças neurológicas. A RNM faz grande suspeição diagnóstica, mas a confi rmação só é realmente obtida através de biópsia cerebral...

Goals: The case described forward search to motivate the medical suspicionin front of a probable diagnose of Balo’s Concentric Sclerosis (BCS) establishing a routine diagnostic. Methods: Case report with cientifi c review of articles published about the subject. Results: It is really diffi cult to determine the BCS’s etiology-fi siopathology because of thedifuse demyelinating’s areas of the central nervous system (CNS) that are seen in a variety of CNS’s diseases. Magnetic resonance (MR) is very important to the diagnosis of BCS, butthe diagnosis’s key is the brain biopsy. The therapy consists of high dose of steroidals being controled by magnetic resonance imaging...

Enfermedades prion / Prion diseases

Las enfermedades prion son un grupo se desordenes degenerativos del sistema nervioso central que comparten características patológicas crónicas y progresivas. Los agentes causales son un grupo de proteínas infectantes sin presencia de ácidos nucleicos. El objetivo de realizar esta revisión es dar a conocer: qué son las enfermedades priónicas, además de aportar datos sobre su fisiopatología, clasificación, modos de transmisión a si como cuadro clínico, diagnóstico y posible tratamiento para lograr una mayor comprensión de estas patologías. Normalmente en nuestro organismo existen proteínas llamadas proteínas priónicas (PrP) las mismas que poseen un nivel de estructuración de tipo hélice alfa que es susceptible a la lisis por proteasas; la patogénesis de estas proteínas se producen cuando aparece una mutación o un cambio conformacional inducido por PrP patógena de otro individuo lo cual altera su estructura tridimensional haciendo imposible su lisis enzimática y su consecuente acumulación en los tejidos afectados, originando así las enfermedades priónicas.

The prion diseases are a group of degenerative disorders of the central nervous system that have chronic and progressive pathological characteristics in common. These diseases are caused by infectious agents called prion. A prion is a small proteinaceous infectious particle which resists inactivation by procedures that modify nucleic acids. The objective of this article is to understand the different aspects of these diseases and to contribute data about its physiopathology, classification, clinical signs and symptoms, diagnosis and treatment to. There exists a cellular protein known as cellular prion protein PrP that have alpha helix structure susceptible to lysis by protease. The pathogenesis of these proteins are produced when the mutation causes a change in the folding pattern of these protein which makes it resistant to the action of proteases and causes it to precipitate as insoluble amyloid. It accumulates in the affected tissue and causes the disease.

Neuropathological spectrum of lesions associated with intractable epilepsies: a 10-year experience with a series of 153 resections.

BACKGROUND: Surgical management of intractable epilepsies is currently an established mode of therapy in various clinical settings. AIMS: To retrospectively evaluate the neuropathological findings in both temporal and extratemporal lobe resections in such patients. MATERIALS AND METHODS: The study included resected specimens from patients with intractable epilepsy managed at a tertiary care hospital of India, during a 10-year period (1995-2004). RESULTS: A total of 153 patients, with mean age of 19.4 years and male predominance (73.2%) were included in the study. Overall, there was a predilection for the temporal lobe (73.2%), while 41cases were extratemporal in location. On histopathology, mesial temporal sclerosis (MTS) (24.8%) was the commonest lesion, followed by tumors (19.6%) and isolated focal cortical dysplasia (FCD - 15.11%). Other less common findings included Rasmussen encephalitis, non-specific gliosis and vascular malformations. In addition, 20.9% (32 cases) had dual lesions, majority of which included FCD with ganglioglioma (15 cases) or with dysembryoplastic neuroepithelial tumor (12 cases). In the temporal lobe, neoplasms and dual lesions formed the majority (apart from MTS), unlike dual lesions followed by neoplasms and FCD, in the extratemporal location. CONCLUSION: This series demonstrates that most patients with chronic intractable epilepsy have significant histopathological findings and highlights the neuropathological spectrum of such lesions, in the Indian context. This was similar to that reported from the West, but different from the single Indian series available in the literature. Further, the overall profile of temporal lobe lesions was not different from the extratemporal ones.

Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect / 대한소아신경학회지

PURPOSE:The study was carried out to characterized the clinical and the laboratorial features of children with mitochondrial respiratoy chain disorders in Korea. METHODS:We retrospectively analyzed the clinical and the loboratorial data of 28 children with significantly low activities in respiratory chain complexes of muscle using spectrophotometry. RESULTS:The mean age was 6.67+/-4.44 years and the ratio males to female was 1.15:1. Eighteen patients (64.3%) showed defects in Complex I, 8 (28.6%) in Complex VI, 1 (3.6%) in Complex II, and 1 in Complex I and IV. Eight cases (28.6%) were diagnosed with Leigh disease, one with MELAS, Kearns-Sayre syndrome, and Alpers disease retrospectively, but the predominant clinical presentations were a nonspecific encephalopathy (17/28, 60.7%). Epilepsy was seen in 21 (75.0%) patients, while developmental delay in 27 (96.4%) patients. Fifteen out of 28 children (53.6%), clinical symptoms mostly appeared below age of 1 year. The brain MRI showed diffuse cortical atrophy in 18 (64.3%) patients and basal ganglia signal changes in 12 (42.9%) patients. CONCLUSION:The defects in mitochondrial respiratory chain complexes should be considered in any children with an unexplained neurological condition including even epilepsy.

Concentric sclerosis: imaging diagnosis and clinical analysis of 3 cases.

Baló's Concentric sclerosis (BCS) is a rare demyelinating disease considered to be a variant of multiple sclerosis (MS). The typical magnetic resonance imaging (MRI) changes associated with BCS consist of concentric rings or onions' cross-section on T1-weighted (T1W) images. Because MRI reveals pathological changes consistent with autopsy in the focus of BCS, it plays an important role in the before-death diagnosis of BCS. We report three cases of BCS diagnosed antemortem on the basis of the typical concentric rings pattern on MRI and on the basis of clinical findings and cerebrospinal fluid (CSF) examination. BCS often occurs in the prime of life, acutely or subacutely. Then come cerebral multifocal symptoms and signs. We find that BCS is not always an acute and irreversible pathological process as described in the past.

Esclerosis Mesial temporal: Clinica, estudios paraclinicos y cirugia / Mesial temporal sclerosis a comprehensive approach

Se realiza una revisión no sistemática de los principales tópicos de la esclerosis mesial temporal. Su clínica en ocasiones precedida en años por crisis febriles, reaparece, en la adolescencia como una epilepsia evolutiva caracterizada por crisis parciales simples y complejas, en muchos casos con pobre respuesta al tratamiento farmacológico, lo cual hace a quien la presenta candidato a una cirugía, procedimiento que reduce (incluso elimina) el uso de antiepilépticos. Se revisan las principales manifestaciones clínicas y su importancia en cuanto a lateralidad y se analizan los principales métodos diagnósticos y se propone una evaluación prequirúrgica sistemática para los candidatos. Finalmente se discute el estudio de Ontario y sus implicaciones en el tratamiento quirúrgico de la epilepsia

Degenerative brain diseases and neuroimaging in children

The degenerative brain diseases represent one of the most common problems in paediatric neurology. Findings of computerized tomography and magnetic resonance imaging in 39 children with progressive neurological disorders were evaluated. Twenty five patients were boys and 14 girls. The ages ranged from 10 weeks to 12 years [mean 6.5 years]. Children had either CT scan [34 cases] or MRI brain [5 cases]. Thirty [77%] of CT [27 cases] and MR[[3 cases] were abnormal, and abnormalities included demyelination, cortical atrophy, calcification, hypo/hyperdense areas and cerebellar atrophy. MR[or CT scan brain, whenever possible, should be part of evaluation of a child who is suspected of having a neurodegenerative disorder in order to strengthen on diagnosis

Esclerosis concéntrica de Baló: caso clínico / Balo concentric sclerosis: report of one case

We report a 50 years old woman admitted to the hospital due to progressive dysphagia and disarthria of there weeks duration. On admission a right hemiparesis was noted. CSF examination showed a protein of 9 mg/dl and no cells. A brain CAT scan showed rounded bilateral subcortical frontoparietal hypodense zones peripheral contrast material enhancement. Pseudobulbar palsies and hemiparesis worsened and the patient required nasoenteral feeding. She was discharged after four months, with severe dissabilities, with the diagnosis of Balo concentric, a progressive demyelinating disease

Enfermedades por priones / Prion's disease

La autoreplicación del prion cumple un papel esencial en la patogenia de este grupo de afecciones caracterizadas por la producción de encefalopatías espongiformes, tanto en los casos determinados por un factor genético hereditario como en los provocados por iatrogenia o posiblemente por la ingestión de alimentos o sustancias contaminadas. En ambos casos la producción de una variante conformacional de la proteína prion plantea incógnitas por su mecanismo de replicación sin la intervención de DNA o RNA. Finalmente la implicancia de la epidemia en el ganado bovino aparecida hace más de 10 años en inglaterra, resulta inquietante a la luz de la nueva variante de este origen comunicada en 1996 en los seres humanos.

Pilizaeus-Merzbacher: Un trastorno Hereditario de la Mielina / Pilizaeus-Merzbacher: A heriditarian myelin disorder

Se describen las caracteristicas clinicas de 5 pacientes del sexo masculino, pertenecientes a una misma familia, con diagnostico de enfermedad de Pilizaeus-Merzbacher y cuya caracteristica fundamental consiste en un inicio temprano de la enfermedad, determinada por la presencia de nistagmo y una perdida lentamente progresiva de las habilidades a predominio de las funciones motoras. Estos pacientes son comparados con los reportado en la literatura medica

Leucodistrofia cavitaria sudanofílica: forma familiar adulta / Sudanophilic cavitating leukodystrophy: a familiar adult form

La leucodistrofia cavitaria sudanofílica constituye un trastorno raro de la sustancia blanca cerebral, el cual se caracteriza clínicamente por sordera, retardo mental, trastornos de conducta y afectación de tractos largos descendentes. Desde el punto de vista neuropatológico, los rasgos resaltantes son extensa desmielinización central subcordial y profunda, conspicua astrocitosis y macro y microcavitación. Se describe el caso de un paciente masculino de 34 años de edad, con antecedentes personales y familiares, rasgos clínicos y hallazgos neuropatológicos consistentes con leucodistrofia cavitaria sudanofílica. Hasta donde alcanza nuestro conocimiento, en Venezuela no han sido publicados casos de esta inusual entidad nosológica

Enfermedad de Schilder: a propósito de un caso / Schilder disease: apropos of a case

La ahora denominada Leucodistrofia Adrenocortical tipo Schilder, representa una de las formas más graves de demencia asociada o pérdida visual y auditiva en la edad escolar. Presentamos un caso clínico y radiológicamente característico con el objeto de llamar la atención hacia su existencia y hacia la esperanza de poder ahora realizar diagnóstico pre-natal.