Hypertrichosis,pigmentary retinopathy,and facial anomalies: A new syndrome?

We report on a 22-month-old male with congenital hypertrichosis of the face, arms, legs, shoulders, back, and buttocks, abnormal facial appearance, dolichocephaly, and pigmentary retinopathy. Symmetrical hyperpigmentation is present on the sideburn areas of his face, and hyperpigmented streaks are seen on arms and legs. Biopsy of the hyperpigmented skin showed many separate bundles of smooth muscles in the dermis. No relative had hypertrichosis or other birth defects. To our knowledge, the syndrome of facial anomalies, pigmentary retinopathy, and congenital hypertrichosis has not been reported previously. © 1996 Wiley-Liss, Inc.     

Fumarylacetoacetase mutations in tyrosinaemia type I

Sixty-two hereditary tyrosinaemia type I (HT1) patients of various ethnic origins were classified clinically into acute, chronic, or intermediate phenotypes and screened for the 14 published causal mutations in the fumarylacetoacetase (FAH) gene. Restriction analysis of PCR amplified genomic DNA identified 74% of the mutated alleles. IVS12+5G→A, predominant in the French Canadian HT1 patients, was the most common mutation found in 32 alleles in patients from Europe, Pakistan, Turkey, and the United States. IVS6-1G→T, encountered in 14 alleles, was common in Central and Western Europe. There was an apparent “Scandinavian” 1009G→A combined splice and missense mutation (12 alleles), a “Pakistani” 192G→T splice mutation (11 alleles), a “Turkish” D233V mutation (6 alleles), and a “Finnish” or northern European W262X mutation (7 alleles). The remaining mutations were rare. Some of the mutations seem to predispose for acute and other for more chronic forms of HT1, but in our material no clearcut genotype phenotype correlation could be established. © 1996 Wiley-Liss, Inc.     

An epidemiological study of eating disorders in Norwegian psychiatric institutions

Objective: The aim was to establish the prevalence of eating disorders in psychiatric patients. Method: The total inpatient (n = 8,942) and outpatient (n = 10,125) Norwegian psychiatric population was investigated with a staff-report questionnaire. Results: The prevalence of eating disorders in the inpatient population was 3.8% for women and 1.6% for men. In the outpatient population, the differentiated diagnoses anorexia nervosa (AN), bulimia nervosa (BN), and the comorbidity of AN + BN was 5.7%, 7.3%, and 1.6% for women, and 0.8%, 0.7%, and 0.3% for men (this could be reduced to AN and BN prevalences of 7.3% and 8.9% for women and 1.0% and 1.0% for men). Discussion: The level of the prevalence figures is in the expected area, thus the present study confirms earlier studies with smaller psychiatric populations. © 1995 by John Wiley & Sons, Inc.     

Sub-angiographic peripheral emboli in high resolution DWI after endovascular recanalization

Journal of Neurology - To analyze the incidence of peripheral emboli after successful mechanical thrombectomy (MT) of intracranial large vessel occlusions (LVO). We performed a prospective analysis...