A. Achiron, B.-Z. Garty, S. Menascu, D. Magalashvili, M. Dolev, B. Ben-Zeev and O. Pinhas-Hamiel
Background: Multiple sclerosis (MS) occurs in young adults and infrequently appears in childhood.
Objectives: To determine the incidence of MS and describe the clinical, cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) findings at onset MS in children in Israel.
Methods: Incidence and case-specific data were obtained through the MS Center Database and Israeli Health Statistics Census Data over 15 years, from 1995 to 2009, and compared between patients with childhood (< 12 years), juvenile (> 12 years, < 18 years) and adult (> 18 years) onset MS.
Results: Of 1129 eligible MS patients, we identified 10 (0.89%) with childhood-onset MS, 74 (6.55%) with juvenile-onset MS, and 1045 (92.56%) with adult-onset MS. There were 0 to 3 incident childhood cases/year, leading to an annual incidence of 0.1/100,000 among Israeli children the incidence of juvenile and adult MS was 2.6 and 5.4/100,000, respectively. Neurological presentation among children with MS was optic neuritis, motor weakness or brainstem involvement. CSF oligoclonal immunoglobulin (IgG) were positive in 62.5%. The most frequent MRI finding was the occurrence of ¡Ý 3 periventricular white matter lesions followed by corpus callosum lesions, with 71% co-occurrence. Cervical and thoracic lesions occurred in 33% and 43%, respectively. Time to second neurological event ranged from 0.3 to 4.2 years and none of the patients with childhood MS reached EDSS=6.0 within a mean follow-up period of 8.4 years.
Conclusions: Childhood-onset MS is rare, with an incidence of 0.1/100,000 Israeli children. Childhood MS does not differ significantly from juvenile and adult-onset MS in terms of clinical, laboratory and imaging findings.
U. Arad, E. Niv, D. Caspi and O. Elkayam
Monogenic periodic fever syndromes are characterized by recurrent episodes of fever, accompanied by localized inflammatory manifestations. Among them, familial Mediterranean fever (FMF) is the most studied and is by far the most prevalent periodic fever syndrome in Israel. We present a diagnostic workup of a patient suffering from a periodic fever syndrome, initially thought to be FMF and characterized by attacks of fever, severe abdominal pain, a migratory erythematous rash and conjunctivitis. The development of periorbital edema presenting as diplopia led to consideration of tumor necrosis factor receptor-1-associated periodic syndrome (TRAPS). Genetic tests confirmed the diagnosis. This case should alert us that even in Israel, a patient with periodic fever, not fully consistent with the typical features of FMF, should be evaluated for other periodic fever syndromes.
Y. Wiener, M. Frank, O. Neeman, Y. Kurzweil, J. Bar and R. Maymon
Background: The triple test serum markers for Down’s syndrome screening may be altered because of various conditions other than chromosomal trisomies.
Objectives: To assess the profile of mid-trimester triple test serum markers in a cohort of women treated with low molecular weight heparin (LMWH) for thrombophilia since the first trimester.
Methods: Women with inherited or acquired thrombophilia treated with LMWH prior to 12 weeks gestation were followed between October 2006 and September 2009 at our obstetric outpatient clinic. The second-trimester screening test for Down syndrome was calculated from the combination of triple serum markers and maternal age, and expressed as a multiple of the gestation specific normal median (MoM). Reference MoM values were calculated from the local population. Data on pregnancy outcome were obtained from patient records.
Results: The median human chorionic gonadotrophin (hCG) level of women with inherited thrombophilia was 0.87 MoM, compared to 0.99 MoM in controls (P = 0.038) and compared to 1.355 MoM in women with acquired thrombophilia (P = 0.034). In contrast, alpha-fetoprotein MoMs did not differ significantly between women with inherited and women with acquired thrombophilia (0.88 vs. 0.99 MoM, P = 0.403).
Conclusions: The triple test serum markers may be altered in thrombophilia patients treated with LMWH. Clinicians should consider offering these patients the first-trimester nuchal translucency test and other sonographic markers that are probably unaffected by the underlying maternal disease and/or treatment modality.
A. Samokhvalov, R. Farah and N. Makhoul