[Importance of early diagnosis and treatment in the prognosis of type I Glutaric Acidaemia]. / Importancia del diagnóstico precoz y el tratamiento temprano en el pronóstico de la aciduria glutárica tipo I.

INTRODUCTION: Glutaric Acidaemia type I (GA-I) is an autosomal recessive progressive neurodegenerative inborn error of metabolism caused by deficient activity of the enzyme glutaryl-CoA dehydrogenase (GCDH). In most cases, the diagnosis is established biochemically by the detection of glutaric acid and 3-hydroxy glutaric acid in urine and glutarylcarnitine in plasma. Patients excreting small amounts of glutaric acid may be overlooked. OBJECTIVE: To investigate the value of expanded newborn screening by adding the measurement of urine glutarylcarnitine to conventional chromatography-mass spectrometry (GC-MS) in the diagnosis of GA-1. MATERIAL AND METHODS: We report clinical and biochemical data in 5 GA-I patients diagnosed in our Hospital. Details regarding biochemical diagnosis are emphasised and the absence or presence of symptoms was correlated with neuroimaging findings, age at diagnosis and treatment. RESULTS: Two patients showed high glutarylcarnitine levels in plasma and were identified by routine newborn GC-MS screening. Following early appropriate treatment they are asymptomatic 6 years later. Two patients with delayed diagnosis displayed neurological sequels in spite of treatment. The remaining patient, who presented with encephalopathic episode at age 8 months showed normal glutarylcarnitine levels in routine plasma GC-MS but high urine glutarylcarnitine levels in a retrospectively screened urine sample from the newborn period. CONCLUSIONS: Early treatment seems to positively influence the clinical evolution of GA-I patients. Thus, improving the identification of GA-I represents an important diagnostic challenge. The urinary excretion of glutarylcarnitine is a specific biochemical marker of GA-I and allows the identification of patients without glutaric aciduria and with normal plasma acylcarnitine profiles.

[Self-limited acute encephalopathy related to measles component of viral triple vaccine]. / Encefalopatía aguda autolimitada en relación con el componente antisarampionoso de la vacuna triple vírica.

INTRODUCTION: Neurological disorders secondary to the measles component of viral triple vaccine are not frequent. In spite of controversy regarding the cause, the clinical, diagnostic and legal implications are worth considering. CLINICAL CASE: We present the case of a 16 month-old baby with a clinical picture of self-limiting acute encephalopathy characterized by cerebellar ataxia and alterations in behavior, accompanied by the clinical signs of attenuated measles. The negative results of complementary tests and an obvious time-relationship with a triple virus vaccination lead us to interpret the condition as being secondary to the measles component of the vaccine. CONCLUSIONS: We consider that although there is a low incidence of complications, the index of suspicion is also low, and even lower in cases with only minor neurological signs. It is therefore possible that such reactions are under-reported.

[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. / Encefalomiopatía mitocondrial precoz por deficiencia aislada del complejo IV compatible con el síndrome de Alpers-Huttenlocher: a propósito de dos observaciones.

INTRODUCTION: Complex IV or cytochrome c oxidase (COX) deficiency is the most common disorder involving complexes of the respiratory chain in the pediatric age. Exceptionally, it has been reported in association with Alpers syndrome or Alpers disease, and with its variant named progressive neuronal degeneration with liver disease or Alpers-Huttenlocher syndrome. OBJECTIVE: To report the cases of two infants with mitochondrial encephalomyopathy due to COX deficiency in whom the clinical, biochemical, neurophysiologic and neuroimaging characterization suggested an associated Alpers-Huttenlocher syndrome. CLINICAL CASES: Two no-related males, one with noncontributory family history and the other with third-grade consanguineous parents developed refractory seizures from age 20 and 60 days, respectively. Additionally, myoclonic fits accounted on evolution of the condition. In the first case, serial EEG recordings showed low amplitude polyspikes, polyspike waves and very slow waves of high amplitude alternating with a trace of burst-suppression activity. In the second case, a right preponderant but also bilateral low amplitude polyspikes, polyspike waves and occasional desynchronization of basal trace were recorded. In both, a rapidly progressive cerebral atrophy, neurological deterioration with pyramidal signs, and tendency to microcephaly, ensued. Accompanying to this clinical picture, minor hepatic dysfunction, elevated protein levels in the CSF, lactic acidosis and COX deficiency in muscle homogenate were demonstrated. In the first case, moreover, cortical blindness and severe hepatic failure occurred while receiving valproate, in spite of concomitant L-carnitine therapy. CONCLUSIONS: We believe that the reported cases are consisted with Alpers-Huttenlocher syndrome associated with mitochondrial encephalomyopathy due to COX deficiency. Nevertheless, early myoclonic encephalopathy, a condition related in same cases with poliodistrophy, must be keep in mind as a possible diagnosis in case 1.

[Migraine in childhood and adolescence: a retrospective review of hospital cases]. / Migraña en la infancia y adolescencia. Revisión retrospectiva de una casuística hospitalaria.

A retrospective study of 101 cases of infantile migraine aged between 3 and 14 years is reported. Both sexes were affected equally, being common migraine the most frequent form. The immediate positive family history for migraine and underlying precipitating factors were identified in 66% and 88% of the cases respectively. The electroencephalographic picture displayed focal spike and wave or sharp and slow wave discharges in 19.1% of the cases. The evolution was favourable in 92% and there was no correlated with headache frequency or treatment approach. The better therapeutic response was obtained when underlying precipitating factors were removed. The most effective prophylactic drugs in our series were flunarizine, propanolol and dimetotiazine. We discuss the most relevant features of the migraine in the infancy.

Peutz-Jeghers syndrome in a neonate.

A 15-day-old girl was found to have generalized gastrointestinal polyposis resulting from Peutz-Jeghers syndrome. Her manifestations included abdominal distention, hematemesis, bloody diarrhea, and edema. She died at 1 year of age of multiple complications of her disease.