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Transient neonatal hyperinsulinemic hypoglycemia (TNHI) is a form of neonatal-onset hyperinsulinism which usually resolves completely in a few days or months. It is secondary to conditions such as maternal diabetes mellitus or intra-uterine growth retardation. Other rare causes of TNHI are perinatal asphyxia and gestational diabetes. Hyperinsulinemic hypoglycemia (HI) is also observed in association with rare metabolic or genetic conditions. It can also occur in newborns without risk factors. TNHI is usually a transient phenomenon. However, some newborns can have prolonged HI that requires treatment with diazoxide, persists for several months and then resolves spontaneously. Neonatal hyperinsulinemic hypoglycemia must be promptly and correctly diagnosed and treated in order to avoid neurological consequences. We describe a case of transient neonatal hyperinsulinemic hypoglycemia in a full-term born without perinatal complications and appropriate for gestational age with an unfavourable neurological outcome.

We describe a retarded female patient with distinct facial dysmorphism (round puffy cheeks, epicanthal folds, ocular hypertelorism, short broad nose, low set and slanted ears), joint laxity, clinodactyly, abnormal dermatoglyphics (bilateral absence of c palmar triradius and single palmar crease) and a peculiar metacarpophalangeal profile. The possibility of a new MCA/MR is discussed.

Editor—Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder, characterised by microcephaly, bird-like face, growth retardation, immunodeficiency, cytogenetic abnormalities, increased radiosensitivity, and high susceptibility to lymphoid malignancy. The NBS1 gene, mapped on chromosome 8q211 and recently cloned,2 3codes for nibrin, a member of the hMre11/hRAD50 protein complex, involved in DNA double strand break repair. The NBS Registry in Nijmegen includes 55 patients. The majority of them are of eastern European origin and share a common haplotype, suggesting a founder effect, and a mutation consisting of a truncating 5 bp deletion in exon 6, 657-661 del ACAAA.4 Five further mutations have been found in six patients with different haplotypes and of various ethnic origins. We found a new mutation of the NBS1 gene in a 2 year old girl from Morocco. The patient, a girl born at term in August 1997 (fig 1), is the third child of apparently non-consanguineous parents; the two brothers, aged 12 and 6 years, are healthy. The pregnancy was uneventful until the 33rd week, when growth retardation, dilatation of the cerebral ventricles, and agenesis of the corpus callosum was diagnosed by ultrasound examination. Figure 1 (A) The patient at 18 months. (B) The right hand with preaxial polydactyly. Birth weight was 2520 g (3rd centile), length 46 cm (

The analysis of 10 X-linked DNA polymorphisms (five mapping on the short arm and five on the long arm) in two Becker muscular dystrophy pedigrees has been used to localize this gene in the known sequence of DNA polymorphic markers on the X chromosome. In the first pedigree, the carrier mother, whose phase for Becker and for five informative polymorphisms is known, has transmitted a double recombinant X chromosome to one of her two affected sons. The discordance between these two affected brothers for four of the five informative polymorphisms indicates that the Becker gene is located between RC8 or D2 on one side and pDP34 on the other. In the second pedigree, where the maternal grandfather is dead and two maternal first cousins are affected, the phase of DNA polymorphic alleles has been identified in somatic cell hybrids resulting from the fusion of hamster fibroblasts with lymphocytes of the mothers and aunt of the patients. The discordance between the two first cousins for two of the four informative DNA polymorphisms is best explained by the occurrence of a single recombination in the X chromosome carried by one of them. This result further restricts the localization of the Becker gene to a region of the short arm delimited by B24 and L 1.28. Regional and fine gene mapping through the approach described in this paper should become useful in the future for X-linked as well as for autosomal genes.

The cerebrospinal fluid (CSF) levels of IgG and the separation of the CSF and serum proteins by isoelectric focusing (IEF) were studied in 5 patients with subacute sclerosing panencephalitis (SSPE). Oligoclonal IgG fractions were found in the CSF of all the patients. The CSF IgG, IgG-Index and IgG SYN values were higher in the patients observed in the earlier than in those seen in the later stages of the disease. 1 of the 3 patients treated with isoprinosine presented a partial clinical remission accompanied by an increase in the parameters of intrathecal IgG synthesis.

In order to assess the early presenting symptoms and signs of myotonic dystrophy in childhood, 12 subjects (four females and eight males), offsprings from eight different families, were examined. The patients' ages ranged from six to 15 years and their course has been followed for four years. The family history, the presenting symptoms, the clinical features and course, the mental evaluation, the electromyographic, ophthalmological and histopathological findings, the serum enzymes, the cardiovascular and endocrinological systems of all the subjects were discussed. The authors observed that, under the same conditions of age and duration of illness, the disease is worse in those patients whose mother is the affected relative and that same investigations (EMG, ERG, echocardiography and muscle biopsy) were altered also in the pre-clinical stage of the disease.

After a bibliographical revue on progressive spinal amyotrophy the nosographical aspects of the various forms are discussed, above all the proximal ones. Considering personal observations, the conclusion is that a definite differences is the various forms of proximal spinal amyotrophy does not exist and today they are different expressions of the same illness.

Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G-->A (resulting in the amino acid substitution R182 H) cosegregated with JME.The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.