MALATTIA METABOLICA SIMULANTE UN TUMORE: RIGONFIAMENTO DEL TRONCO IN UN CASO DI MALATTIA MITOCONDRIALE

Translated title of the contribution: Metabolic disorder suggesting a tumor: Enlargement of the midbrain in a case with mitochondrial disease

E. Ciceri, G. Uziel, A. Erbetta, F. Carnevale, M. Savoiardo

Research output: Contribution to journalArticle

Abstract

A female infant aged 7 months was admitted to another hospital because of divergent strabismus, weakness, feeding difficulties, poor growth. Unilateral palpebral ptosis, stupor and generalized muscle hypotonin were also noted. Biochemical data showed metabolic acidosis with elevated blood lactate and pyrovate. MRI showed and asymmetrically enlarged midbrain with abnormal signal intensity suggesting a brain tumor. At the age of 10 months the patient was admitted to the Istituto Nazionale Neurologico 'C. Besta', for stereotactic brain biopsy, but the review of the MRI disclosed the presence of symmetrical tiny areas of increased signal intensity in T2-weighted images in the inferior cerebellar peduncles and in the pontine tegmentum. These features suggested the possibility of a metabolic disorder; the association with the periaqueductal abnormalities suggested a mitochondrial disease in spite of the enlargement of the midbrain. A muscle biopsy was then performed and biochemical assays of the respiratory chain complexes revealed a marked defect of NADH-Co-Q reductase (complex I). After oral DCA treatment a clinical improvement and also a decrease of MR abnormalities were obtained. This is the first case of mitochondriol desease with a pseudotumoral presentation.

Translated title of the contributionMetabolic disorder suggesting a tumor: Enlargement of the midbrain in a case with mitochondrial disease
Original languageItalian
Pages (from-to)268-269
Number of pages2
JournalRivista di Neuroradiologia
Volume7
Issue number2
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

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