Long-term treatment of children with epilepsy with valproate or carbamazepine may cause subclinical hypothyroidism.

PURPOSE: The aim of the study was to evaluate serum thyroid hormone balance in children receiving long-term therapy with carbamazepine (CBZ), valproate (VPA), and phenobarbital (PB). METHODS: We determined serum levels of triiodothyronine (T3), thyroxine (T4), free thyroxine (FT4), thyroxine-binding globulin (TBG), and thyroid-stimulating hormone (TSH) in 148 healthy children and 141 children with epilepsy who had been receiving CBZ (61 patients), VPA (51 patients), or PB (29 patients) for 12-161 months. In view of TSH values, three categories of subclinical hypothyroidism were considered: I, TSH greater than the control-group mean + 2 SD (4.37 mIU/L in our study) and <6 mIU/L; II, TSH between 6 and 12 mIU/L; and III, TSH >12 mIU/L. RESULTS: In all treated groups, mean T4 and FT4 levels were lower than in the control group, whereas the CBZ- and VPA-treated children additionally showed reduced mean T3 and TBG levels and increased mean TSH levels. In the group receiving CBZ, 8.2% had TSH values higher than the normal-range maximum, by comparison with only 3.6% of healthy children. The increase in TSH levels was particularly marked in VPA-treated children, accounting for 26% of patients with subclinical hypothyroidism. CONCLUSIONS: Our results, in contrast to previous reports, suggest that CBZ and particularly VPA may induce subclinical hypothyroidism. This suggests a need for careful monitoring of TSH levels in children receiving CBZ or VPA.

Congenital myopathy with type II muscle fiber hypoplasia.

An unusual congenital neuromuscular disease characterized by atypically small type II muscle fibers is reported. The patients were a 9-year-old boy and a 3-year-old boy, both of whom showed motor retardation with proximal muscle wasting and hypotonia. Muscle biopsy revealed hypoplastic type II fibers and normal type I fibers. The observed hypoplasia seems to be a primary alteration.

[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.

[Familial agenesis of the corpus callosum: a new form]. / Agénésie familiale du corps calleux: une nouvelle forme.

BACKGROUND. Agenesis of the corpus callosum is generally associated with other developmental defects of the cerebrum. Some familial cases have been reported. CASES REPORTS Case n. 1. A 6 year-old girl was examined because of developmental retardation, first noted at the age of 3 months. There was no consanguinity but 2 girls, cousins of the father, died at 17 and 18 years with the same clinical presentation. Our patient had seizures at 4 years. At examination, she had microcephaly, dilated unreactive pupils, and generalized hypotonia. Her IQ was 15. Funduscopic examination showed optic atrophy and visual evoked potentials were abnormal. The EEG showed spike-wave discharges and the CT scan showed agenesis of the corpus callosum plus heterotopias of the grey matter and brain atrophy. The child died at 12 years of age. Case n. 2. At 15 month-old girl, sister of case n. 1, had shown developmental retardation since the age of 4 months. She had microcephaly, dilated unreactive pupils, generalized hypotonia. Her IQ was 20. She also had optic atrophy, abnormal visual evoked potentials and a hypsarrhythmic pattern on EEG. The CT scan showed agenesis of corpus callosum plus heterotopias of the grey matter and brain atrophy. She died at the age of 10 years. Case n. 3. This boy, brother of cases 1 and 2, was examined on the first day of life. He had microcephaly and some spike-wave discharges on EEG. The CT scan and MRI showed agenesis of the corpus callosum. He had generalized hypotonia at 5 months with an IQ of 30; he suffered from seizures at 18 months. CONCLUSIONS. This agenesis of the corpus callosum seems to have an autosomal recessive inheritance. The associated developmental defects are different from those previously reported, suggesting that these cases represent a new form of corpus callosum lack.

Hyperaminoacidemia in epileptic children treated with valproic acid.

Serum amino acids were determined in 22 epileptic children treated with valproic acid. This treatment caused hypocarnitinemia in all, and hyperammonemia in 16. Regardless of the blood ammonia levels, values for glutamic acid, arginine, glycine, serine and alanine were higher than those of normal controls, while aspartic acid and ornithine were lower. These findings suggest that valproate causes intramitochondrial dysfunction of the urea cycle.

[Rett syndrome. A frequent cause of progressive mental retardation in girls]. / Síndrome de Rett. Una causa frecuente de retraso mental progresivo en niñas.

We report 6 cases of Rett syndrome, a disorder that occurs only in girls and is characterized by slowly progressive deterioration of higher brain function, with dementia and autistic behavior, loss of purposeful use of the hands and deceleration of head growth. We consider interesting this report because Rett syndrome would be an important cause of mental retardation in girls, which has been overlooked until few years ago.

[Polymyositis and dermatomyositis in childhood]. / Poliomiositis y dermatomiositis en la infancia.

Authors report clinical and laboratory findings, treatment and evolution of six girls and three boys aged between 20 months and 13 years, diagnosed of juvenile polymyositis-dermatomyositis in the last seven years. Presenting symptoms were asthenia and proximal muscle weakness; in 3 cases characteristic skin lesions were associated. All were treated initially with prednisone p.o. (1-2 mg/kg/day) response being favourable in seven. Two patients with chronic evolution were treated with methotrexate and IV bolus of methylprednisolone.