SummaryFamilial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly and hemophagocytosis. The hallmark of FHL is defect apoptosis triggering and lymphocyte cellular cytotoxicity. Thus far three disease-causing genes (PRF1, UNC13D, STX11) have been identified. We performed a genotype-phenotype study in a large, multi-ethnic cohort of 76 FHL patients originating from 65 unrelated families. Biallelic mutations in PRF1, UNC13D and STX11 were demonstrated in 13/74 (18%), 6/61 (10%) and 14/70 (20%) patients, respectively. In 27/60 (45%) patients analyzed for all three genes, no molecular diagnosis was established. STX11 mutations were most common in Turkish families (7/28, 25%), whereas in Middle East families, PRF1 mutations were most frequent (6/13, 46%). No biallelic mutation was identified in most families of Nordic origin (13/14, 93%). Patients carrying PRF1 mutations had higher risk of early onset (age <6 months) compared to patients carrying STX11 mutations [adjusted odds ratio 8AE23 (95% confidence interval [CI] = 1AE20-56AE40), P = 0AE032]. Moreover, patients without identified mutations had increased risk of pathological cerebrospinal fluid (CSF) at diagnosis compared to patients with STX11 mutations [adjusted odds ratio 26AE37 (CI = 1AE90-366AE82), P = 0AE015]. These results indicate that the disease-causing mutations in FHL have different phenotypes with regard to ethnic origin, age at onset, and pathological CSF at diagnosis.
Infarction of orbital bones during vaso-occlusive crises in sickle cell disease presents acutely with a rapidly progressive periorbital swelling. Haematomas frequently complicate the condition and, along with the inflammatory swelling, may lead to orbital compression syndrome. The condition is therefore sight-threatening, and necessitates prompt diagnosis and appropriate management for resolution without adverse sequelae. Imaging techniques are invaluable in the evaluation of patients. The majority of cases resolve with conservative treatment that includes steps to combat the vaso-occlusive crisis and use of systemic steroids under antibiotic cover.
The prevalence of functional asplenia in Omani children with sickle cell disease (SCD) has not been previously defined. In this study, the authors aim to compare the natural history of splenic dysfunction in their patients to other reports. The splenic function was studied in 72 Omani patients with sickle cell disease (50 homozygous for hemoglobin S (HbS-S), 11 double heterozygotes for HbS and beta(0)-thalassemia (HbS-beta(0)-thal), 5 HbS-beta(+)-thal, 5 patients with hemoglobin S-D disease, and 1 child with hemoglobin S oman trait) aged 4.8-16 years, using (99m)Tc-labeled tin colloid scintigraphy. The study revealed 4 groups according to their colloid uptake: group I included 20 patients (28%) with normal splenic function; group II, 6 patients (8%) with mild hyposplenism; group III, 20 (28%) with severe hyposplenism; and group IV, 26 (36%) patients with functional asplenia. Overall, more than 60% of them had preserved splenic function. Except for HbS-beta(+) patients, the developmental pattern of hyposplenism was not different among the different Hb phenotypes. Factors associated with preservation of spleen function in these patients were larger splenic size (p < .01), less clinical severity (p < .05), lower MCH (p < .01), higher HbF (p < .001), and presence of alpha-thalassemia trait (p < .05).
A prospective study of Guillain-Barré syndrome from January 1992 to December 2001 was undertaken. Intravenous immunoglobulins were used in all patients. All patients were followed up until complete recovery. Various parameters, such as onset of weakness, duration of hospital stay, ventilation requirement, residual deficit, and mortality, were recorded. Acute relapses and fluctuations were also noted. The pattern of this group was compared with patients before 1992, who were not given intravenous immunoglobulins in the Sultanate of Oman. Our data were compared with a few studies prior to 1992 from the medical literature. Our study revealed a definite benefit with intravenous immunoglobulins. The disease course and hospital stay were shortened. Fewer patients needed ventilation. There was no mortality, and the residual deficit was less than 5%. Occasional relapses at a later stage in the course of illness have been noted in acute Guillain-Barré syndrome. However, acute relapse, a new phenomenon that was not seen in the pre-intravenous immunoglobulin era, stood at 11.9%. Intravenous immunoglobulins have made a significant difference in the outcome of Guillain-Barré syndrome, but one has to be aware of acute relapses, which usually occur in the first 2 to 3 weeks after administration.
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