[Hallervorden-Spatz disease: presentation of a new case].

A case of Hallervorden-Spatz's disease is described in a thirteen-year-old patient, with typical case symptoms of pyramidalism, dystonia and regressive motor control, over the last four years. MRI provided a bilateral palidal image in 'tiger eye'. The possible appearance of early forms have been stressed, characterised by a learning delay and a regressive syndrome starting between 5-10 years of age, along with later forms which manifest themselves mainly as Parkinson's disease.

[Complex I and IV deficits in the mitochondrial respiratory chain in two siblings with type I glutaric aciduria].

We report two brothers with a glutaric aciduria type I (GA-I) identified by Glutaryl-coenzyme A dehydrogenase deficiency in skin fibroblasts. The onset of neurologic abnormalities was at 6 and 9 months of age as an acute Reye-like presentation in one. Because of the hyperlactacidemia, hyperlactatorrachia, mitochondrial abnormalities in muscular cells and a deficiency in complex I and IV of the respiratory chain in isolated mitochondria from muscle, a presumptive diagnosis of Leigh syndrome was made.

[Diagnosis of ornithine carbamoyl transferase deficiency and heterozygote detection with allopurinol loading test].

Background: Allopurinol loading test is based on the inhibition of pyrimidine biosynthesis and the subsequent increase in orotic acid excretion caused by a single dose of allopurinol. Abnormally elevated amounts of orotic acid excretion are demonstrated in ornithine carbamoyl transferase (OCT) deficiency patients and heterozygotes as well as in other disorders of urea cycle. Biochemical studies performed for the diagnosis of one patient and carrier detection in her family are presented.

Glutaric aciduria type I: unusual biochemical presentation.

We describe a patient with glutaryl-coenzyme A dehydrogenase deficiency, demonstrated by a residual enzyme activity of only 1% in cultured fibroblasts. Although the clinical presentation was typical of glutaric aciduria type I, the urine concentrations of glutaric, glutaconic, and 3-hydroxyglutaric acids remained normal, even during episodes of clinical decompensation. An increased free glutarate level was demonstrated only in cerebrospinal fluid.

[Peripheral neuropathy as a presenting form of Cockayne syndrome].

We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included failure to thrive, microcephaly, peripheral neuropathy and elevated level of protein in CSF. More typical signs of this syndrome appeared lately with progeroid facies, photosensitivity and intracranial calcifications that computed tomography revealed at 13 months of age. The early onset of clinical manifestations, the association with peripheral neuropathy, and the high level of protein in CSF are unusual facts that led us to do the differential diagnosis with other demyelinating disorders.

[Alternating hemiplegia in infancy: clinical features, clinical course and treatment based on three cases].

Alternating hemiplegia is an infrequent form of complicated migraine. Clinical course has similarities with seizure disorders and correct diagnosis may be difficult. We report three patients whose onset in early childhood was with general impairment, transient hemiplegia, ocular movements and vasomotor symptoms.

[The role of neonatal electroencephalography in the prognosis of the hypoxic-ischemic syndrome].

One hundred and thirty four newborn children of 37 weeks' gestation age or greater, with evidence of hypoxic-ischemic encephalopathy following perinatal asphyxia and surviving through the neonatal period were prospectively studied. The study involved evaluation of clinical outcome and the presence of epilepsy associated with the EEG pattern in the neonatal period. The results prove that the presence of a burst suppression EEG pattern and a hypoactive/flat EEG are negative prognostic criteria.

[Idiopathic inflammatory myopathies in childhood. A study of 7 patients].

Five patients with dermatomyositis and 2 with polymyositis between 3 and 12 years old are reviewed. All of them fulfil the Bohan and Peter diagnostic criteria. Five presented misery before weakness.