[Fatal rhabdomyolysis in an 8-year-old female].

Introduction: Rhabdomyolysis is a syndrome characterised by the destruction of muscle fibres which results in the release of toxic intracellular metabolites into the circulatory system. It usually has a benign progression but can have serious, potentially fatal, complications that largely depend on the cause. Disorders affecting the metabolism of energy in muscles can manifest as recurring rhabdomyolysis, which usually has kidney failure as its most common complication.

[Focal cerebral ischemic or hemorrhagic lesions in the term newborn. Review of the last decade].

Introduction: Although focal cerebral ischemic or hemorrhagic lesions are infrequent in the term newborn, they must be considered when neurologic symptoms appear, especially when seizures are present.

Objective: Possible risk factors to suffer from these pathologies have been studied, as well as their evolution, to try to give a prognosis.

Patients And Methods: The term newborns with focal ischemic or hemorrhagic cerebral lesions who presented symptoms in the neonatal period have been studied for 10 years (January 1990-March 2000) in our Children s Hospital Miguel Servet of Zaragoza (Spain).

[Severe neonatal mitochondrial cytopathy caused by isolated COX defect].

We report a neonate with isolated cytochrome c oxidase (COX) defect and severe multisystemic involvement. The patient had severe encephalopathy, predominant since birth, and died due to hypoxic-ischemic myocardiopathy. He was the second son of non-consanguineous, healthy parents who also had a daughter with chronic encephalopathy.

[Early diagnosis of a serious form of Pelizaeus-Merzbacher's disease confirmed by molecular analysis of the gene for proto-lipoproteins].

Introduction: Pelizaeus-Merzbacher's disease involves extensive demyelination of the Central Nervous System. This is due to a defect in the gene for proteolipoproteins, found on the X chromosome. It appears early as marked axial hypotonia, stridor, nystagmus and anomalous movements of the head, and later as variable pyramidal, extrapyramidal and cerebellar involvement.