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Pavlovic S, Kuzmanovic M, Urosevic J, Poznanic J, Zoranovic T, Djordjevic V, Rasovic N, Bunjevacki G, Cvorkov-Drazic M, Colovic M. Severe central nervous system thrombotic events in hemoglobin Sabine patient. Eur J Haematol 2004: 72: 67–70. © Blackwell Munksgaard 2004. Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG → CCG) of β-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of G γ Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factors participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease. [ABSTRACT FROM AUTHOR]

Öner Ö, Öner P, Deda G, İçağasioğlu D. Psychotic disorder in a case with Hallervorden–Spatz disease. Acta Psychiatr Scand 2003: 108: 394–398. © Blackwell Munksgaard 2003. Hallervorden–Spatz disease is a rare autosomal recessive condition, with early onset of predominantly extrapyramidal dysfunction. The symptoms of the disease are dystonia, rigidity, choreoathetosis, pyramidal signs, and intellectual decline. Recent genetic studies mapped the disease to chromosome 20p12.3-p13, and identified mutations in the pantothenate kinase gene. This report describes a childhood onset case of Hallervorden–Spatz disease with schizophreniform psychotic symptoms. Former reports about the psychiatric comorbidity generally included depressive disorder. A single case report. A 14-year-old boy with Hallervorden–Spatz disease presented a psychotic episode with prominent auditory hallucinations. Symptoms were relieved after neuroleptic treatment. To the authors’ knowledge, this is the first published report of the disease with psychotic symptoms. The contribution of basal ganglia, with their wide projections, to the emergence of psychotic symptoms was discussed. [ABSTRACT FROM AUTHOR]