RESUMEN
The demonstration of low arylsulfatase-A (ASA) activity in leucocytes or fibroblasts is used often to establish the diagnosis of metachromatic leucodystrophy (MLD). However, low ASA activity is observed also in pseudo-ASA deficiency which may be as common as MLD. We report two patients with pseudo ASA deficiency who had abnormal neurological findings consistent with atypical MLD. Because the measurement of ASA activity is neither a sensitive nor specific method with which to establish a diagnosis of MLD, this diagnosis should be confirmed by nerve biopsy, measurement of urinary sulfatide or a cerebroside sulfate loading test, using cultured fibroblasts.
Asunto(s)
Cerebrósido Sulfatasa/deficiencia , Enfermedades del Sistema Nervioso/complicaciones , Sulfatasas/deficiencia , Adulto , Cerebrósido Sulfatasa/genética , Cerebrósidos/metabolismo , Diagnóstico Diferencial , Femenino , Galactosilceramidasa/metabolismo , Humanos , Lactante , Leucodistrofia Metacromática/diagnóstico , MasculinoRESUMEN
Pathognomonic ultrastructural inclusions were found in the lymphocytes of 16 patients with neuronal ceroid lipofuscinosis (Batten's disease) and in the urine of three of four of such patients. These inclusions remained type specific for each patient and were identical with deposits in nerve cells and other body tissues. They persisted in lymphocytes in short-term tissue culture, but disappeared with stimulation by phytohemagglutinin. Siblings had identical inclusions. None were present in heterozygotes. Examination of lymphocytes in the peripheral blood cells is an easy method to use in the diagnosis of ceroid lipofuscinosis, but it cannot be used to detect carriers.
Asunto(s)
Lipidosis/sangre , Linfocitos/ultraestructura , Adolescente , Niño , Femenino , Humanos , Cuerpos de Inclusión/ultraestructura , Lipidosis/orina , Masculino , PadresRESUMEN
Three patients presented with Machado-Joseph disease. We documented the vestibular abnormalities characteristic of Machado-Joseph disease during clinical examination. Electronystagmographic (ENG) abnormalities included bilateral gaze nystagmus, saccadic pursuit and failure of fixation suppression suggestive of cerebellar-brainstem pathology. Machado-Joseph disease is a degenerative neurological condition, inherited in an autosomal dominant fashion. It occurs in patients of Portuguese Azorean extraction. We suggest that otolaryngologists with a referral base including a Portuguese community be familiar with this disease as it may present in its early stages with symptoms of non-specific imbalance.