Thalassemia intermedia. Report of two cases]

We report two cases of intermediate beta-thalassemia diagnosed at the age of 2 years and 3 1/2 years respectively. Characteristic features of this disease include delayed onset, moderate blood transfusion requirements, and frequent development of hypersplenism. Major iron overload develops even in patients who have received no transfusions. This disease is further characterized by significant genetic heterogeneity and by a reduction in the imbalance between produced chains and deficient chains.     

Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease

A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. Multivariate analysis was performed to study the risk of thalassemia Intermedia phenotype associated with the different combinations of alleles. The presence or absence of the favorable alleles could accurately predict the type of thalassemia in 83.2% of the cases. The percentage of correct predictions made from the β-thalassemia mutations and the XmnI SNP alone were significantly improved by the adjustment with the 3 other modifiers; from 73.6% to 83.2% (P<0.001). In this study, we showed that predictions based on genetic modifiers can foresee the Major or Intermedia type of β-thalassemia, even in cohorts of patients with various β-globin genotypes.     

Les atrophies péronières en Tunisie: Étude de 70 observations pures ou associées à d''autres affections hérédodégénératives

Seventy cases of hereditary peripheral neuropathy of Charcot-Marie-Tooth type have been studied. One group of 40 cases from 30 families had a pure peripheral neuropathy, the other 30 from 20 families having other associated inherited nervous defects. The classification of Dyck and Lambert (1968) modified by Dyck (1975) was used, but it proved difficult to distinguish pure types and transitional forms were common. Histological criteria appeared more reliable than clinical features and were the most constant finding within a given family.

In forms associated with other abnormalities a hypertrophic and a neuronal form could be distinguished but similar difficulties in classification were encountered as the mode of genetic transmission, age of onset, clinical features and nerve conduction velocity were comparable in the two groups. Discrepancies between electrophysiological and histological findings may result from examining motor nerves with the former technique and sensory with the latter. Despite subdivision there is still a sharp distinction between the various forms of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Déjerine-Sottas. The genetic pattern is complicated by the frequent association with other inherited abnormalities.     

Palmar-plantar fasciitis and multiple myeloma

Palmar fasciitis and arthritis was reported in association with several neoplasms and in particular with the cancers of the ovary. We report the case of a 37 year old patient who was hospitalized in our service for investigation of sever palmar fasciitis and to whom various investigations allowed to make the diagnosis of a light chains myeloma. Through the study of the various cases of the literature, we remind the various characteristics of this syndrome.     

Sweet's syndrome associated with ovarian carcinoma

Sweet's syndrome is sometimes associated with haematological malignancies and less frequently with solid tumors. We report a new case of association of a Sweet's syndrome with an ovarian carcinoma.     

Cerebellar liponeurocytoma. Case report

The cerebellar liponeurocytoma is a rarely and recently described tumour. It may be distinguished on the basis of neuroimaging findings that demonstrate the areas of fat density. Complete surgical removal with postoperative radiation therapy is recommended. It has a relatively more favourable prognosis. We report the case of a 38-year-old woman without particular pathological antecedent with a few months history of headache and dizziness, aggravated since 2 days by signs of increased intracranial pressure and cerebellar dysfunction. The Computerized Tomography practiced in emergency showed a subtentorial space occupying mass, heterogeneous, exhibiting the attenuation values of fatty tissue, with hydrocephalus upstream. The patient has been operated. The histopathological and immunohistochemical studies concluded to a cerebellar liponeurocytoma.     

Radiation-induced intracerebral cavernous angioma

Recently, there have been several case reports of cavernous angiomas appearing after radiation to the brain, typically in children. The time interval between irradiation and the detection of the cavernous angioma varied from three to nine years and the doses from 24 to 60 grays. We report the appearance of a cavernous malformation in a young girl 3 years after radiation therapy for a brain tumor.