Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16-57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes, quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene. Eligibility criteria for the study also included being 16 years of age or older and being enrolled in a genetic counselling programme. The pedigree and DNA analyses allowed the identification of 40/52 carriers and 12/52 non-carriers. All women evaluated were clinically healthy, and their levels of urinary GAGs were within normal limits. Median plasma and leukocyte IDS activities found among carriers were significantly lower than the values found for non-carriers; there was, however, an overlap between carriers' and non-carriers' values. Our data suggests that MPS II carriers show lower plasma and leukocyte IDS activities but that this reduction is generally associated neither with changes in levels of urinary GAGs nor with the occurrence of clinical manifestations.

Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II.

BACKGROUND AND PURPOSE: There are no reliable markers to predict neurologic outcome of patients with mucopolysaccharidosis (MPS) II. We hypothesized that brain MR imaging and MR spectroscopy are useful in depicting features related to cognitive impairment (CI) in MPS II. MATERIALS AND METHODS: Nineteen male patients with MPS II were included in this study. They were evaluated through intelligence/developmental tests to be classified in 2 groups: patients with CI (group A) or patients without CI (group B). Brain MR imaging evaluated white matter (WM) lesions, hydrocephalus, and brain atrophy. Voxels from MR spectroscopy (point-resolved spectroscopy TE 30 ms) were positioned in the WM of the deep right frontal lobe and at the gray matter (GM) in the posterior occipital cortex across the midline. Comparison of MR imaging and MR spectroscopy findings between these 2 groups and a control group was performed. RESULTS: The mean age of the patients was 9.6 years (group A, 7.08 years old, 12 patients; group B, 14 years old, 7 patients; P = .076). Brain atrophy and hydrocephalus were more frequently found in group A patients (P=.006 and P=.029, respectively); these patients also presented more severe WM lesions than patients from group B (P=.022). Patients from group A also had a higher myo-inositol (mIns)/creatine (Cr) ratio in the GM (P=.046) and in the WM (P=.032). The choline/Cr and N-acetylaspartate/Cr ratios were similar in both groups. CONCLUSIONS: Our study showed that severe WM lesions, brain atrophy, hydrocephalus, and elevated mIns/Cr were more common in patients with MPS II and with CI.

Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.

We describe a patient who was evaluated because of delayed development. The patient had microcephaly and cafe-au-lait spots and the facial features included upward slanting of the palpebral fissures, short nasal bridge and a highly arched palate. In addition the external ears had bilateral over folded helices, there was clinodactyly of the fourth and fifth fingers and multiple cafe-au-lait spots on the back, buttocks and thighs. Chromosomal analysis of peripheral blood showed 46,XY,-r(12)(p13.3q24.33)[73]/45,XY,-12[8]/47,XY,r(12)(p13.3q24.33),+r(12)(p13.3q24.33)[2]. This is the eighth case of a patient with a ring chromosome 12 to be reported so far. The similarity of our patient to those previously described suggests that the ring chromosome 12 syndrome can be delineated as a distinct entity with characteristic clinical features.

[Multifactorial analysis of risk factors for low birth weight in Salvador, Bahia]. / Análisis multifactorial de los factores de riesgo de bajo peso al nacer en Salvador, Bahia.

This study is a multifactorial analysis of the risk factors for low birthweight in a group of newborns in an urban area of Brazil. A total of 1023 infants born in four maternity units in Salvador, Bahia, between July 1987 and February 1988 were included in the study. The sources of information were clinical histories and interviews with the mothers in the maternity units. The analysis was by means of logistic regression. In the final model the risk factors were the following: maternal age less than 21 years or more than 35; gestational age less than 38 weeks; unfavorable outcome of an earlier pregnancy; interval of 12 months or less since prior birth; tobacco smoking; and hypertension. The population attributable risk values for the risk factors included in the final model are presented. These factors should be used to identify pregnant women at high risk of giving birth to a low-birthweight baby, in order to provide them with more prenatal care.

[Protective effect of intradermal BCG on tuberculous meningitis]. / Efeito protetor do BCG intradérmico na meningite tuberculosa.

The incidence of tuberculosis in Bahia, though declining, remains very high, and one of the severe forms of the disease is tubercular meningitis. This case-control study sought to compare confirmed cases of tubercular meningitis in children 0 to 14 years of age with members of a control group, matched as closely as possible for age (not more than about six months apart), who had shown no sign of meningitis or neurological disease. The comparison considered such factors as schooling of the parents, their occupations, exposure to the bacillus at home, and others. The study showed that failure to vaccinate heightens the risk of contracting the disease--a risk estimated at 11.7 with a confidence interval of 4.5 to 30.5, and an etiological component of 9.14%--and also that the risk is lower the earlier the child is vaccinated. With this study the authors wish to underscore the need to expand the coverage of intradermal BCG vaccination.