Shwachman--Diamond syndrome associated with autoimmune phenomena.

A 2-year-old boy was evaluated for failure to thrive, hypotonia and developmental delay. The child exhibited all the criteria of Shwachman-Diamond syndrome, i.e., short stature, metaphyseal dysostosis, pancreatic insufficiency and neutropenia. Liver function tests were abnormal. Marked edema together with pericardial effusion appeared during the period of follow-up. Hypothyroidism attributed to autoimmune thyroiditis was diagnosed, and other autoantibodies were detected as well. We suggest that an autoimmune baseline profile and follow-up should be part of the work-up and management of patients with Shwachman-Diamond syndrome. Moreover, the finding of autoantibodies might offer a new insight towards understanding the pathogenesis of this condition.

Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients.

This study analyzes the relative frequency and age of onset of the different seizure types in a 20-year cohort of a pediatric neurology outpatient clinic of an urban hospital that serves the majority of the city's population (Tel Aviv Medical Center). Only patients with two or more unprovoked seizures were included. Neonatal seizures were excluded from the analysis. The different seizure types in descending order of frequency were: partial seizures secondarily generalized (20.6%), complex partial seizures (12.5%), West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%). The findings of this study confirm that there are more pediatric patients with partial seizures (52%) than primary generalized seizures (33%) and that partial seizures secondarily generalized is the most frequent seizure type in this age group.

SMA type 2 unrelated to chromosome 5q13.

We describe two brothers with clinical and histological findings of type 2 spinal muscular atrophy (SMA) associated with small head circumference (<2%) and normal cognitive development. No survival motor neuron (SMN) or neuronal apoptosis-inhibitory protein (NAIP) deletions were detected in these sibs, and they were discordant for the haplotypes determined by DNA markers flanking the 5q13 SMA locus. These findings support the presence of a distinct anterior horn disease unrelated to 5q13. This entity may have either autosomal recessive or X-linked inheritance.

Unprovoked seizures and developmental disabilities: clinical characteristics of children referred to a child development center.

Few data are available on the risk of seizures in young children with developmental problems. A retrospective evaluation of 1,946 children 0-5 years of age referred to the Tel Aviv Child Development Center (CDC) between 1981 and 1990 was performed. The study was undertaken to determine the cumulative risk of unprovoked seizures in children referred to a CDC and to assess the risk factors associated with seizures in these children. The center serves the Tel Aviv area for a variety of developmental disabilities. Cumulative risk of seizures and risk factors were assessed using Kaplan-Meier methodology. Unprovoked seizures occurred in 58 patients (3%), including 10 with a single seizure and 48 with two or more seizures. Risk factors for seizures included cerebral palsy (CP) (relative risk [RR] = 28.7), neonatal seizures (RR = 15.2), mental retardation (MR) (RR = 7.8), febrile seizures (RR = 7.7), autism (RR = 3.2), and prematurity (RR = 2.7). The cumulative risk of seizures by age 5 years in children with MR, CP, and MR plus CP was 8%, 47%, and 68%, respectively, compared with 1% in those without MR or CP. On multivariate analysis, CP, MR, prior febrile seizures, and prematurity were associated with an increased risk of seizures. The risk of experiencing unprovoked seizures by age 5 in children with developmental disabilities is 3%, which is fourfold greater than that of the general population. Much of this increased risk is limited to selected subgroups with major disabilities. However, if neither MR nor CP is present, the 1% risk of developing unprovoked seizures by age 5 in children with other developmental problems is not substantially different from that expected in the general population.