RESUMEN
Oculodentodigital dysplasia, a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, classically presents with typical facial features, dental and ocular anomalies, and syndactyly. Oligosymptomatic patients are common and difficult to recognize, in particular if syndactyly is absent. Neurologic manifestation occurs in approximately 30% of patients, and leukodystrophy or T2 hypointensity of gray matter structures or both have been noted in individual patients. To investigate MR imaging changes in oculodentodigital dysplasia, we retrospectively and systematically reviewed 12 MRIs from 6 genetically confirmed patients. Diffuse supratentorial hypomyelination, T2-hypointense Rolandic and primary visual cortex, and symmetric involvement of middle cerebellar peduncle, pyramidal tract, and medial lemniscus was present in all, T2-hypointense pallidum and dentate nucleus in 2 patients each. This consistent, characteristic pattern of diffuse supratentorial hypomyelination and brain stem involvement differs from other hypomyelinating and nonhypomyelinating leukodystrophies with brain stem involvement, and its recognition should trigger genetic testing for oculodentodigital dysplasia.
Asunto(s)
Tronco Encefálico/diagnóstico por imagen , Tronco Encefálico/patología , Anomalías Craneofaciales/diagnóstico por imagen , Anomalías Craneofaciales/patología , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/patología , Deformidades Congénitas del Pie/diagnóstico por imagen , Deformidades Congénitas del Pie/patología , Sindactilia/diagnóstico por imagen , Sindactilia/patología , Anomalías Dentarias/diagnóstico por imagen , Anomalías Dentarias/patología , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
INTRODUCTION: Adenosine kinase deficiency (ADK deficiency) is a recently described disorder of methionine and adenosine metabolism resulting in a neurological phenotype with developmental delay, muscular hypotonia, and epilepsy as well as variable systemic manifestations. The underlying neuropathology is poorly understood. We have investigated MRI and (1)H-MRS changes in ADK deficiency in order to better understand the in vivo neuropathologic changes of ADK deficiency. METHODS: Systematic evaluation of 21 MRIs from eight patients (age range 9 days-14.6 years, mean 3.9 years, median 2.7 years) including diffusion-weighted imaging in six and (1)H-MRS in five patients. RESULTS: Brain maturation was delayed in the neonatal period and in infancy (6/6), but ultimately complete. White matter changes occurring in five of eight patients were discrete, periventricular, and unspecific (4/5), or diffuse with sparing of optic radiation, corona radiata, and pyramidal tracts (1/5). Choline was low in white matter spectra (3/3), while there was no indication of low creatine in white matter or basal ganglia (5/5), and diffusion was variably decreased or increased. Central tegmental tract hyperintensity was a common finding (6/8), as was supratentorial atrophy (6/8). CONCLUSIONS: MRI changes in ADK deficiency consist of delayed but ultimately completed brain maturation with later onset of mostly unspecific white matter changes and potentially transient central tegmental tract hyperintensity. Immaturity on neonatal MRI is consistent with prenatal onset of disease and reduced choline with lower membrane turnover resulting in delayed myelination and deficient myelin maintenance.
Asunto(s)
Adenosina Quinasa/deficiencia , Encefalopatías Metabólicas/enzimología , Encefalopatías Metabólicas/patología , Encéfalo/metabolismo , Encéfalo/patología , Imagen por Resonancia Magnética/métodos , Espectroscopía de Protones por Resonancia Magnética/métodos , Adenosina Quinasa/metabolismo , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Imagen Molecular/métodos , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
The so-called molar tooth sign is the radiologic hallmark of JSRD. Joubert syndrome is a rare, most often autosomal-recessive disorder with a characteristic malformation of the midhindbrain. We describe 3 patients with JSRD and the additional MR finding of tissue resembling heterotopia in the interpeduncular fossa, which in one patient was combined with a more extensive intramesencephalic heterotopia. Interpeduncular heterotopia has not been reported previously, either in the context of JSRD or as a separate entity. This new imaging feature enlarges the spectrum of brain stem abnormalities in JSRD. In view of the underlying ciliopathy, it seems likely that the interpeduncular heterotopia results from misdirected migration.
Asunto(s)
Enfermedades Cerebelosas/patología , Coristoma/patología , Fosa Craneal Posterior/patología , Anomalías del Ojo/patología , Enfermedades Renales Quísticas/patología , Imagen por Resonancia Magnética , Tegmento Mesencefálico/anomalías , Anomalías Múltiples , Adulto , Cerebelo/anomalías , Preescolar , Femenino , Humanos , Lactante , Masculino , Puente/anomalías , Retina/anomalías , Retina/patologíaRESUMEN
The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients-two male-female sibling pairs, one pair born to consanguineous parents, and an unrelated female-with a distinct pattern of band-like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post-natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable "pseudo-TORCH" phenotype inherited as an autosomal recessive trait.
Asunto(s)
Anomalías Múltiples/patología , Encefalopatías/complicaciones , Calcinosis/complicaciones , Malformaciones del Desarrollo Cortical/complicaciones , Encéfalo/patología , Niño , Resultado Fatal , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Fenotipo , Cambios Post Mortem , Tomografía Computarizada por Rayos XRESUMEN
We report imaging abnormalities from 5 brain MR examinations in 4 children with methylmalonic acidaemia between the ages of 20 days and 31 months. In addition to bilateral basal ganglia lesions (pallidum) observed in 3 of 4 children, we found signs of delayed brain maturation (myelination delay, immature gyral pattern, incomplete opercularization) in all children and signs of a white matter disorder in the 3 older children. Unexpectedly, brainstem and cerebellar changes were present in all children. Reviewing the brain imaging changes reported for methylmalonic acidaemia, we discuss the findings and patterns observed in our patients. We postulate that delayed myelination and signs of a white matter disorder as well as brainstem and cerebellar involvement are common findings and may be due to a chronic neurotoxic effect on the developing and ageing brain.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/patología , Ganglios Basales/patología , Imagen por Resonancia Magnética/métodos , Ácido Metilmalónico/orina , Tronco Encefálico/patología , Cerebelo/patología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Tomografía Computarizada por Rayos XRESUMEN
We present four children, three of them boys, affected with an identical clinical pattern consisting of early-onset ataxia, delayed dentition, hypomyelination and cerebellar atrophy. Dental radiographs showed variable absence of succedaneous teeth. Proton MR spectroscopy in one child showed elevated white matter myo-inositol. As the clinical and radiological picture in these patients is identical to that of four cases described earlier, we suggest that this disorder with ataxia, delayed dentition and hypomyelination (ADDH) represents a new entity. With the characteristic tooth abnormalities it should be straightforward to identify new patients in order to facilitate the search for the underlying genetic defect.
Asunto(s)
Ataxia/complicaciones , Encefalopatías/complicaciones , Encefalopatías/diagnóstico , Vaina de Mielina/fisiología , Anomalías Dentarias/complicaciones , Adolescente , Niño , Preescolar , Femenino , Humanos , MasculinoRESUMEN
OBJECTIVE: The study aimed to evaluate differences between EEG and MEG analysis of early somatosensory evoked activity in patients with focal epilepsies in localizing eloquent areas of the somatosensory cortex. METHODS: Twenty-five patients (12 male, 13 female; age 4-25 years, mean 11.7 years) were included. Syndromes were classified as symptomatic in 17, idiopathic in 2 and cryptogenic in 6 cases. 10 patients presented with malformations of cortical development (MCD). 122 channel MEG and simultaneous 33-channel EEG were recorded during tactile stimulation of the thumb (sampling rate 769 Hz, band-pass 0.3-260 Hz). Forty-four hemispheres were analyzed. Hemispheres were classified as type I: normal (15), II: central structural lesion (16), III: no lesion, but central epileptic discharges (ED, 8), IV: lesion or ED outside the central region (5). Analysis of both sides including one normal and one type II or III hemisphere was possible in 15 patients. Recordings were repeated in 18 hemispheres overall. Averaged data segments were filtered (10-250 Hz) and analyzed off-line with BESA. Latencies and amplitudes of N20 and P30 were analyzed. A regional source was fitted for localizing S1 by MRI co-registration. Orientation of EEG N20 was calculated from a single dipole model. RESULTS: EEG and MEG lead to comparable good results in all normal hemispheres. Only EEG detected N20/P30 in 3 hemispheres of types II/III while MEG showed no signal. N20 dipoles had a more radial orientation in these cases. MEG added information in one hemisphere, when EEG source analysis of a clear N20 was not possible because of a low signal-to-noise ratio. Overall N20 dipoles had a more radial orientation in type II when compared to type I hemispheres (p=0.01). Further N20/P30 parameters (amplitudes, latencies, localization related to central sulcus) showed no significant differences between affected and normal hemispheres. Early somatosensory evoked activity was preserved within the visible lesion in 5 of the 10 patients with MCD. CONCLUSIONS: MEG should be combined with EEG when analyzing tactile evoked activities in hemispheres with a central structural lesion or ED focus. SIGNIFICANCE: At time, MEG analysis is frequently applied without simultaneous EEG. Our results clearly show that EEG may be superior under specific circumstances and combination is necessary when analyzing activity from anatomically altered cortex.
Asunto(s)
Electroencefalografía , Epilepsias Parciales/fisiopatología , Potenciales Evocados Somatosensoriales , Magnetoencefalografía , Adolescente , Adulto , Corteza Cerebral/anomalías , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Niño , Preescolar , Electroencefalografía/normas , Epilepsias Parciales/diagnóstico , Femenino , Humanos , Imagen por Resonancia Magnética , Magnetoencefalografía/normas , Masculino , Estimulación Física , TactoRESUMEN
Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
Asunto(s)
Encefalopatías Metabólicas Innatas/enzimología , Encefalopatías Metabólicas Innatas/fisiopatología , Corteza Cerebral/enzimología , Corteza Cerebral/fisiopatología , Glutaril-CoA Deshidrogenasa/deficiencia , Edad de Inicio , Anciano , Atrofia/enzimología , Atrofia/genética , Atrofia/fisiopatología , Encefalopatías Metabólicas Innatas/genética , Carnitina/uso terapéutico , Corteza Cerebral/patología , Trastornos del Conocimiento/enzimología , Trastornos del Conocimiento/genética , Trastornos del Conocimiento/fisiopatología , Análisis Mutacional de ADN , Progresión de la Enfermedad , Alimentos Formulados , Humanos , Ventrículos Laterales/patología , Imagen por Resonancia Magnética , Masculino , Trastornos del Movimiento/enzimología , Trastornos del Movimiento/genética , Trastornos del Movimiento/fisiopatología , Mutación/genética , Fibras Nerviosas Mielínicas/patología , Resultado del TratamientoRESUMEN
The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.
Asunto(s)
Anodoncia/complicaciones , Ataxia/complicaciones , Atrofia/complicaciones , Encéfalo/patología , Cerebelo/patología , Malformaciones del Sistema Nervioso/complicaciones , Edad de Inicio , Anodoncia/patología , Ataxia/patología , Ataxia/fisiopatología , Atrofia/patología , Atrofia/fisiopatología , Ganglios Basales/metabolismo , Ganglios Basales/patología , Ganglios Basales/fisiopatología , Estatura/genética , Encéfalo/metabolismo , Encéfalo/fisiopatología , Cerebelo/metabolismo , Cerebelo/fisiopatología , Niño , Preescolar , Colina/metabolismo , Progresión de la Enfermedad , Femenino , Humanos , Inositol/metabolismo , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Vaina de Mielina/metabolismo , Vaina de Mielina/patología , Fibras Nerviosas Mielínicas/patología , Malformaciones del Sistema Nervioso/patología , Malformaciones del Sistema Nervioso/fisiopatología , Síndrome , Telencéfalo/metabolismo , Telencéfalo/patología , Telencéfalo/fisiopatologíaRESUMEN
Low-grade (WHO level I) meningiomas are slow-growing, benign tumours typically presenting with unspecific symptoms (e.g. headache), seizures, cranial nerve compression and neuropsychological symptoms determined by location and size of the lesion. Haemorrhagic onset and sequelae are rare, and have been described infrequently. This is a case of a 50-year-old male presenting with signs of tentorial herniation secondary to hyperacute intratumoural haemorrhage (ITH) into a previously undiagnosed meningioma. Emergency surgical decompression and exstirpation of the lesion helped to achieve a favourable outcome. ITH has been described in all including benign intracranial neoplasms. Factors associated with a higher risk for haemorrhage in meningiomas are discussed. Though haemorrhages associated with meningiomas have been reported, ITH into low-grade meningiomas leading to herniation remains a rarity. Bearers of known lesions and their treating physicians who opt for conservative or delayed treatment should be aware of this remote complication.
Asunto(s)
Encefalocele/etiología , Hemorragias Intracraneales/complicaciones , Neoplasias Meníngeas/complicaciones , Meningioma/complicaciones , Enfermedad Aguda , Encefalocele/diagnóstico por imagen , Encefalocele/cirugía , Humanos , Hemorragias Intracraneales/diagnóstico por imagen , Hemorragias Intracraneales/cirugía , Masculino , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Meníngeas/cirugía , Meningioma/diagnóstico por imagen , Meningioma/cirugía , Persona de Mediana Edad , Tomografía Computarizada por Rayos X/métodos , Resultado del TratamientoRESUMEN
Magnetic resonance spectroscopy facilitates non-invasive determination of metabolic changes in vivo. The main metabolites are the neuronal marker N-acetylaspartate (NAA), cholines reflecting membrane turnover, creatine, lactate, and mobile lipids. Primary brain tumours exhibit reduced NAA and increased choline resonances compared to normal brain, and these abnormalities increase with higher malignancy. Increasing choline resonances on follow-up studies correlate with tumour progression, whereas the reduction of initially increased choline resonances indicates a transition from viable tumour to necrotic tissue. Metastases as non-neuroectodermal tumours lack NAA, but demonstrate elevated choline, lactate and lipid resonances. Lymphomas are characterised by massively increased lipid resonances with markedly elevated choline. Prominent alanine resonances are often observed in meningioma. Cystic/necrotic lesions demonstrate elevated lactate regardless of their aetiology. The characteristic finding of prominent resonances from acetate, succinate, and alanine, of leucine, isoleucine and valine in untreated bacterial abscesses allows the differentiation of bacterial abscesses from cystic/necrotic brain tumours.
Asunto(s)
Biomarcadores de Tumor/análisis , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/metabolismo , Lípidos/análisis , Espectroscopía de Resonancia Magnética/métodos , Neurotransmisores/análisis , Humanos , Protones , Distribución TisularAsunto(s)
Ácido Aspártico/análogos & derivados , Corteza Cerebelosa/patología , Imagen por Resonancia Magnética , Degeneraciones Espinocerebelosas/patología , Ácido Aspártico/deficiencia , Corteza Cerebelosa/química , Corteza Cerebral/química , Niño , Preescolar , Consanguinidad , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Inositol/análisis , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética , Masculino , Distrofias Neuroaxonales/diagnóstico , Degeneraciones Espinocerebelosas/diagnóstico , Degeneraciones Espinocerebelosas/metabolismoRESUMEN
Alpha-mannosidosis is an inherited lysosomal storage disease. The authors report three siblings (ages 38 to 47 years) with the rare adult variant. All three had late-onset ataxia and retinal degeneration, adding to hearing loss, cognitive impairment, and dysotosis multiplex. One sibling also had psychosis. MRI revealed cerebellar atrophy and predominantly parieto-occipital white matter changes. MR spectroscopy showed no evidence for demyelination. It appears that the disabling course of adult alpha-mannosidosis is caused by lysosomal accumulation rather than demyelination.
Asunto(s)
alfa-Manosidosis/diagnóstico , Adulto , Atrofia , Cerebelo/patología , Enfermedades Desmielinizantes/diagnóstico , Progresión de la Enfermedad , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , alfa-Manosidosis/patologíaRESUMEN
This article summarizes the magnetic resonance imaging features of glutaric aciduria type I (GA I) based on the cases presented at the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency together with a review of previously reported neuroimaging characteristics of GA I. Previous reports have focused on characteristic findings, such as basal ganglia injury and frontotemporal atrophy or hypoplasia, subdural effusions and white-matter disease. Most of these findings have been demonstrated in symptomatic children, i.e. after manifestation of acute encephalopathic crises. In contrast, prospective investigations in presymptomatically diagnosed children are rare. Since more recent investigations have highlighted CNS changes in patients without encephalopathic crises, systematic prospective investigations of neuroradiological findings in this disease are indispensable for a better understanding of this disease. Based on these findings a suggestion for a MRI protocol is presented, supporting a standardized evaluation of patients with GA I.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/patología , Glutaratos/orina , Enfermedades del Sistema Nervioso/patología , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/deficiencia , Encéfalo/patología , Glutaril-CoA Deshidrogenasa , Humanos , Recién Nacido , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND: Two unrelated girls had early onset of nystagmus and epilepsy, absent psychomotor development, and almost complete absence of myelin on cerebral MRI. The clinical features and MR images of both patients resembled the connatal form of Pelizaeus-Merzbacher disease (PMD), which is an X-linked recessive disorder caused by duplications or mutations of the proteolipid protein gene (PLP). OBJECTIVE: To define a unique neurometabolic disorder with failure of myelination. METHOD: S AND RESULTS: 1H-NMR of CSF in both girls was performed repeatedly, and both showed highly elevated concentrations of N-acetylaspartylglutamate (NAAG). The coding sequence of the gene coding for glutamate carboxypeptidase II, which converts NAAG to N-acetylaspartate (NAA) and glutamate, was entirely sequenced but revealed no mutations. Even though both patients are girls, the authors sequenced the PLP gene and found no abnormality. CONCLUSIONS: NAAG is an abundant peptide neurotransmitter whose exact role is unclear. NAAG is implicated in two cases of unresolved severe CNS disorder. Its elevated concentration in CSF may be the biochemical hallmark for a novel neurometabolic disorder. The cause of its accumulation is still unclear.
Asunto(s)
Enfermedades Desmielinizantes/líquido cefalorraquídeo , Enfermedades Desmielinizantes/genética , Dipéptidos/líquido cefalorraquídeo , Proteína Proteolipídica de la Mielina/genética , Biomarcadores , Encéfalo/metabolismo , Encefalopatías Metabólicas/líquido cefalorraquídeo , Encefalopatías Metabólicas/diagnóstico , Niño , Preescolar , Enfermedades Desmielinizantes/metabolismo , Diagnóstico Diferencial , Dipéptidos/metabolismo , Femenino , Genotipo , Glutamato Carboxipeptidasa II/genética , Humanos , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Mutación/genética , Enfermedad de Pelizaeus-Merzbacher/líquido cefalorraquídeo , Enfermedad de Pelizaeus-Merzbacher/diagnósticoRESUMEN
Statistically tumors are the most likely cause of space-occupying intracranial lesions. However, many non-neoplastic diseases also manifest as mass lesions and may be indistinguishable from tumors. The most common of these are inflammatory and dysplastic lesions, which intraaxially imitate mostly glioma, lymphoma, and metastases and extraaxially meningeoma and neurinoma. Aside from a willingness on the part of the diagnostic radiologist to question the most obvious diagnosis, on clinical history and findings are prerequisites for a sound radiological differential diagnosis. The aim of this article is to provide a practical overview of the differential diagnosis of intracranial mass lesions with emphasis on non-neoplastic abnormalities.
Asunto(s)
Encefalopatías/diagnóstico , Neoplasias Encefálicas/diagnóstico , Trastornos Cerebrovasculares/diagnóstico , Imagen por Resonancia Magnética , Adulto , Hemorragia Cerebral/diagnóstico , Infarto Cerebral/diagnóstico , Diagnóstico Diferencial , Encefalitis/diagnóstico , Granulomatosis con Poliangitis/diagnóstico , Humanos , Neurocisticercosis/diagnóstico , Enfermedades de la Hipófisis/diagnósticoRESUMEN
Necrotic meningiomas are relatively rare, accounting for 1.3-3.9% of primary intracranial tumours and for 10-15% of meningiomas, but are of special clinical importance as they may resemble metastases or malignant gliomas. We report the magnetic resonance findings of diffusion-weighted imaging, perfusion-weighted imaging, and spectroscopy in a patient with a necrotic meningioma, in whom clinical symptoms and signs suggested a central nervous system infection.
Asunto(s)
Encéfalo/patología , Imagen de Difusión por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Neoplasias Meníngeas/diagnóstico , Meningioma/diagnóstico , Adulto , Encéfalo/diagnóstico por imagen , Femenino , Humanos , Necrosis , Tomografía Computarizada por Rayos XRESUMEN
Diffusion magnetic resonance imaging (MRI) has become an important tool in the radiologic diagnosis of diseases of the brain as it measures molecular motion of water that characterizes the microstructure of tissues. Its most important clinical use to date is the early detection of cerebral ischemia by revealing the ischemic injury shortly after vessel occlusion and simultaneously providing therapy-relevant information on the tissue at risk. Furthermore, diffusion MRI is diagnostically promising in other diseases of the brain and is thus increasingly becoming part of routine clinical protocols in the diagnosis of tumors, inflammation, trauma, demyelination, dysmyelination and neurodegeneration. Although abnormalities of diffusion are generally not pathognomonic, diffusion MRI affords information about tissue changes for specific disorders that complements information obtained with standard MR techniques and frequently shows pathology earlier. In addition, diffusion MRI can be applied to plan, guide and follow-up biopsies or resective surgery. Particularly diffusion tensor imaging (DTI), which displays the orientation of white matter fibers, holds promise for improved surgical planning. Moreover, DTI can be used to detect changes in connectivity between functional brain areas. Therefore, DTI is highly relevant not only in advancing the knowledge of white matter diseases but also in stimulating research on normal brain development and brain aging.
Asunto(s)
Barrera Hematoencefálica/fisiología , Encefalopatías/diagnóstico , Edema Encefálico/diagnóstico , Imagen de Difusión por Resonancia Magnética , Aumento de la Imagen , Procesamiento de Imagen Asistido por Computador , Equilibrio Hidroelectrolítico/fisiología , Encefalopatías/etiología , Encefalopatías/fisiopatología , Edema Encefálico/fisiopatología , Mapeo Encefálico , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/fisiopatología , Infarto Cerebral/diagnóstico , Infarto Cerebral/fisiopatología , Líquido Extracelular/metabolismo , Humanos , Valores de ReferenciaRESUMEN
We describe a boy presenting at the end of the first year of life with severely delayed motor development and only mild mental retardation. Neurological examination revealed axial hypotonia, mild ataxia and pyramidal signs. Elevated lactate and protein in cerebrospinal fluid were the most prominent laboratory abnormalities. Brain MRI showed severe supratentorial white matter changes. Cerebellar white matter appeared normal whereas the signal of the atrophic cerebellar cortex was markedly increased. In vivo 1H-magnetic resonance spectroscopy of the parietooccipital white matter region showed a distinct resonance of lactate. By means of biochemical analysis of respiratory chain enzymes in fibroblasts, the diagnosis of an isolated complex I deficiency could be established in our patient.