The open opercular sign: diagnosis and significance.

Four children with varying clinical manifestations, but with the unifying feature of severe developmental delay, had bilateral enlargement of the sylvian fissure confirmed by magnetic resonance imaging (MRI). Subsequently, we examined 125 consecutive MRI scans of the heads of pediatric patients, looking for this insular exposure, and did not find it. Pathological correlation in 1 child revealed arhinencephaly and abnormal gyral formation; another is known to have migrational abnormalities. We suggest that the open operculum is a sign of arrested development and is associated with other anomalies and a poor prognosis.

Polymicrogyria: a case detected by MRI.

We report a 3-year-old child affected by severe encephalopathy, partial seizures with early onset and microgyria whom polymicrogyria was detected by means of magnetic resonance imaging (MRI). We believe that MRI first allow an early and confident in vivo diagnosis of this severe and probably not so rare condition.

A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child.

We report a case of Fukuyama congenital muscular dystrophy with inflammatory infiltrate on muscle biopsy in an American girl of non-Japanese ancestry. The child was hypotonic, had decreased muscle strength in all extremities, and poor head control. Her mental and motor development were delayed. She developed generalized seizures at 19 months of age. Her muscle enzymes were abnormal; cranial computed tomography demonstrated hypoplasia of the cerebellum. Electromyogram was normal. Deltoid muscle biopsy documented scattered basophilic regenerating myofibers and focal atrophic fibers with focal increases of endomysial connective tissue, small endomysial foci of inflammatory cells, and occasional perimysial, perivenular lymphocytic infiltrates. Prednisone therapy produced some decrease in serum muscle enzyme levels.

Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile.

We present the results of a collaborative study on the association of congenital muscular dystrophy with central nervous system anomalies revealed by CT scan investigation of 10 patients. In seven children, an abnormal hypodensity of the cerebral white matter is found; in four of these patients, this radiological anomaly is either isolated, or associated with a moderate intellectual impairment; in one case, severe mental retardation and ocular changes had occurred; in the other two cases, the muscular disease was progressing slowly, in association with microcephaly, epilepsy, and moderate mental retardation. Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia-muscular dystrophy syndromes, and the third patient of Fukuyama's congenital muscular dystrophy. These observations are discussed and compared with those reported in the literature. The authors emphasize the need to investigate possible cerebral CT scan anomalies in congenital muscular dystrophies, and to look for muscular changes in some prenatal encephalopathies.

The health and educational status of adolescents with congenital rubella syndrome.

As part of a longitudinal study of children with congenital rubella syndrome, 53 adolescents between 16 and 18 years of age were surveyed to determine their health and educational status. The findings were compared with those at the 18-months evaluation. At 16 to 18 years neurosensory impairments, cerebral dysfunction and organic behaviour syndromes were predominant, but the majority of children had multiple handicaps. A higher proportion had hearing loss. Although all the hearing-impaired children were begun in oral-based educational programs, 90 per cent of those with severe to profound hearing-loss diagnosed before the age of 18 months had changed to total or manual communication. Those with mild to moderate hearing-loss diagnosed after 18 months primarily communicate orally. The educational implications of these findings are discussed.

Effects of hyperphenylalaninemia in the fetal stage on the postnatal development of fetal rat brain.

The effect of exposure at different prenatal stages to maternal hyperphenylalaninemia (HyPhe) on the somatic and neurological development of fetuses in rats was studied, with special respect to the change of relevant enzyme activities in the brain. While evident somatic damage was found only in the fetuses exposed to maternal HyPhe at a last stage of gestation, distinct mental retardation seemingly due to some irreversible damage to the brain was observed in all the treated fetuses regardless of the timing of exposure, and a significantly reduced activity of 2', 3'-cyclic nucleotide 3'-phosphohydrolase (CNPase), a marker enzyme of myelin, was confirmed in the mantle region of the brain.

Neonatal alloimmune thrombocytopenic purpura and congenital porencephaly in two siblings associated with a "new" maternal antiplatelet antibody.

We report a brother and sister, both of whom have porencephaly, hydrocephalus, optic atrophy, severe mental retardation, and spastic quadriplegia. In the younger child, abnormal intracranial structure was demonstrated by sonography at 32 weeks' gestation and was suspected earlier. Both children had transient severe thrombocytopenia as newborns. The mother is healthy and has never had purpura or other bleeding symptoms. However, her serum was found to react strongly with platelets from the father and from both children. The antibody in the mother's serum is platelet-specific but does not appear to be directed against any of the known antigens associated with neonatal alloimmune thrombocytopenic purpura (NATP) in other families, including PlA1, PlE2, or Baka. Although the mother's serum reacts with platelets from all 47 unrelated normal donors tested and from both the mothers and the fathers of 17 other children with suspected NATP, it does not react with her own platelets or with platelets from a patient with Glanzmann's thrombasthenia. These observations suggest that the serum from this woman identifies a previously undescribed high-frequency platelet-specific alloantigen and that sensitization to this determinant caused severe immune thrombocytopenia in both her children. It is likely that this led to intracranial hemorrhage in utero in these cases.

[Encephalocraniocutaneous lipomatosis and linear naevus sebaceus]. / Encephalocraniocutane Lipomatose und linearer Naevus sebaceus.

Encephalocraniocutaneous lipomatosis is a rare neurocutaneous dysgenetic syndrome, which is characterized by unilateral lipomas in the subcutis of the face, skalp and skull, porencephalic cyst of the ipsilateral hemisphere, epilepsy, and severely delayed development. Furthermore a variety of skin lesions (choristomas) has been described. In the present case the skin lesions had the form of a linear nevus sebaceus. This condition is frequently combined with epilepsy and neurological disorders (Schimmelpenning-Feuerstein-Mims-syndrome). The latter seems not to be a very rare syndrome. The coincidence of characteristics of both syndromes in the same child supports the suggestion of a pathogenetical relationship.

Aetiology of mental retardation in Nigerian children around Enugu.

PIP: This study identifies the pattern of mental retardation in 291 Nigerian children in Enugu. In 33.99% the etiology of mental retardation was congenital (present at birth), in 43.99% the cause was acquired and in the rest 23.02% no definite cause could be identified. The results, problems of diagnosis and management in relation to Nigeria are discussed. Massive support from the Government for improving the maternal and child welfare services as well as care for the mentally retarded children is solicited. The high % of cases due to birth trauma (23.38%) and severe neonatal jaundice (8.59%) reflects the quality of maternal and child welfare services as well as the obstetric care in the area. Full use of the available services and intensive health education in towns and villages could be most valuable. The increasing association of mental retardation with epilepsy in Nigerian children has been noted in other studies in this hospital. In the present study, epilepsy was found to cause mental retardation in 12.5% of cases in the acquired group and about 5% of the total number of cases. Malnutrition as a cause of defective mental development has been noted by several authors. However, in the present study, malnutrition could not be identified as a primary cause of mental retardation. In the congenital group, the high representation of Down's syundrome is striking. Children with this syndrome make up about 42.71% of the congenital group and 14% of the overall number of mentally retarded. The majority of mothers were over 35 and multiparous. The care of the mentally retarded child in Nigeria leaves much to be desired. Except for a few states, there are no homes or centers for the furthering of these handicapped children. Since the inception of the Pediatric Neurology Clinic in this hospital, efforts have focused on diagnosis and assessment. Some children aged 5-12 years have been referred to a privately-owned Therapeutic Day Center in Enugu for early furthering and play therapy.^ieng