Xeroderma pigmentosum and acute myeloid leukemia: a case report.

BACKGROUND: Xeroderma pigmentosum is a rare inherited disease characterized by extreme hypersensitivity to ultraviolet rays and predisposing to cutaneous malignancies that can appear in childhood. These manifestations are often associated with ocular lesions and sometimes with neurological disorders. The association of xeroderma pigmentosum with internal neoplasms such as acute myeloblastic leukemia is not reported with great frequency, which confirms the rarity of this occurrence. CASE REPORT: A 26-year-old Moroccan women, xeroderma pigmentosum patient, was diagnosed with acute myeloblastic leukemia with a complex karyotype. Due to the adverse risk of the xeroderma pigmentosum association with acute myeloblastic leukemia and the profile of acute myeloblastic leukemia with complex karyotype and monosomy 7, which constitute factors of poor prognosis, as well as the absence of studies conceding the tolerance of the chemotherapy by patients suffering from xeroderma pigmentosum, our patient was put under low-dose cytarabine protocol with granulocyte colony-stimulating factor. Unfortunately, she died on the tenth day of chemotherapy by acute pulmonary edema of cardiogenic pace complicated by tamponade. CONCLUSION: According to reports, it is the second case showing association of xeroderma pigmentosum with acute myeloblastic leukemia. The management of these patients remains a challenge. Studies focusing on xeroderma pigmentosum patients developing hematological malignancies are necessary to better understand the most appropriate strategies and precautions for this specific case.

[Cockayne's syndrome with unusual retinal involvement (report of one family)]. / Syndrome de Cockayne avec atteinte rétinienne inhabituelle (à propos j'une famille).

Cockayne's syndrome is a very rare autosomal recessive affection. Ocular involvement is an essential element for positive diagnosis; the retina shows a typical salt and pepper retinitis with optical atrophy. We report a family with four brothers who had Cockayne's syndrome with unusual retinal involvement. The patients' parents were first cousins. Ophthalmologic examination of the mother showed unilateral left pigmentary retinopathy localized in the peripapillary region. The father's ophthalmological examination was normal. The four brothers presented disharmonious dwarfism, cutaneous hyperpigmentation of skin areas exposed to sun with old-appearance of the skin, sensorineural deafness, kyphoscoliosis, a cerebellar syndrome and mental retardation. The ophthalmological examination showed hypermetropia in all four brothers and bilateral maculopathy with no papillary or vascular abnormalities. The electroretinogram was in favor of cone dystrophy. Computed tomography showed one case of calcifications of the basal ganglia and cerebral atrophy. The karyotypes of the four brothers and the mother were normal. We discuss the ocular symptoms and the etiopathogenesis of this syndrome.

The prevalence of sexually transmitted pathogens in patients presenting to a Casablanca STD clinic.

The objective of this study conducted at the sexually transmitted diseases (STD) clinic of the Pasteur Institute of Morocco (SCPIM) is to describe clinical complaints and biological findings in patients attending this facility. Two thousand two hundred sixty-four patients had visited the STD clinic from 1992 to 1996. The main reported symptom was genital discharge for men (44.5%) and women (68.6%). Genital eruption and ulcer were more frequent in men. The principal biological result shows a seroprevalence of 0.62% for human immunodeficiency virus (HIV), 3.05% for hepatitis B virus (HBV), 51.5% for chlamydiae and 13.2% for syphilis. Factors associated with clinical findings were age and Gonococcus for men (odds ratio (OR): 1.94 and 5.96, respectively) and Trichomonas and positive TPHA for women (OR: 9.49 and 0.25, respectively). This work describes for the first time the distribution of various germs involved in sexually transmitted diseases in Moroccan population and underlines the importance of studying its sexual behavior as well as determinants of STD incidence.

Beneficial effect on serum apo AI, apo B and Lp AI levels of Ramadan fasting.

In order to investigate for the first time in Morocco the effect of fasting in Ramadan, the ninth lunar month of the muslim year, on lipoprotein metabolism, we determined the levels of serum apolipoproteins; apolipoprotein AI (apo AI), apo B, apo AIV and those of lipoprotein particles; apo AI-containing lipoprotein particles (Lp AI) and also apo AI and apo AII containing lipoprotein particles (Lp AI:AII) in a group of 32 healthy, volunteer adult males. Determination of all these parameters was carried out on each week of the month of Ramadan and the results are compared with the pre-fasting and the post-fasting values. Ramadan fasting reduces significantly serum apo B (P < 0.05), while serum apo AI is significantly increased (P < 0.05) compared with the pre-fasting period. The increase of apo AI occurred on day 29 of Ramadan by 11.8%. Serum apo AIV was unchanged during the fasting period indicating that food intake during Ramadan is not based on lipid diet. The observed diet pattern during Ramadan showed an increase of total energy intake based on carbohydrates (+1.4% of total energy), proteins (+0.4% of total energy) but not on fat (-0.7% of total energy), compared with a usual diet used in the rest of the year. The fat diet is high in monounsaturated (P < 0.05) and polyunsaturated fatty acid in contrast to saturated fatty acid which decreased (P < 0.05) during Ramadan. On the other hand, analysis of serum Lp AI and Lp AI:AII showed that the levels of Lp AI:AII were unchanged but those of Lp AI were significantly increased (P < 0.01) at the end of Ramadan. These findings show that feeding behaviour that occurs during Ramadan beneficially affects serum apolipoprotein metabolism and may contribute to prevention of cardiovascular diseases.

HCV genotypes in Morocco.

To determine the hepatitis C virus (HCV) genotypes circulating in Morocco, virus isolates from 105 chronically infected and 19 hemodialysis patients were examined using the line probe assay. Genotypes 1 and 2 only were found among Moroccan patients. Subtypes 1b (47.6%) and 2a/2c (37.1%) were the most common, whereas subtype 1a (2.8%) was less common. Among the hemodialysis patients, only genotype 1 was found with a prevalence of 68.4% for subtype 1b and 15.8% for the subtype 1a. It was also shown that the HCV genotypes distribution varies with age in both studied populations. Subtype 1b was most prevalent among older patients, whereas subtype 2a/2c was mainly found among younger ones. Although Morocco belongs to the African continent, the circulating HCV strains are similar to those observed in some American and European countries.

Seroepidemiological study of an acute hepatitis E outbreak in Morocco.

This study clearly shows that hepatitis E virus (HEV) was the major aetiological virus in an outbreak in the south of Morocco, in 1994. Acute hepatitis E was diagnosed using recombinant antigen-based enzyme immunoassays and reverse transcription polymerase chain reaction in 77.3% of patients. In the west of Morocco, 6.1% of controls were positive for anti-HEV IgG. The anti-HEV prevalence in patients was significantly higher than that of controls (84.0% vs. 6.1%) (P < 0.001). In healthy contacts residing in southern Morocco, 10.4% had anti-HEV IgG, indicating past HEV infection. Furthermore, HEV-specific IgM was associated with subclinical HEV infection in 9 contacts and was noted in 10 others who were convalescent. Faecal contamination of drinking water samples collected from the epidemic city was observed. It also appeared that primary infection with HEV accounted for more than 86% of the cases. A longitudinal study showed waning of anti-HEV antibodies in patients and healthy contacts six months after the initial testing. Subclinical HEV infection was significantly prevalent in a paediatric population younger than 10 years (P < 0.05). Our results also showed that anti-HEV IgG in healthy contacts decreased significantly after 30 years of age (P < 0.01), whereas the clinical acute HEV infection incidence increased significantly with age (P < 0.01). From this study, it appears that HEV is present in both the west and the south of Morocco.

[Chlamydial infections and male infertility in Morocco]. / Chlamydiose et infertilité masculine au Maroc.

Chlamydia trachomatis infection of the lower genital is recognised as the most common sexually transmitted disease, is role in male infertility is controversial, the objective of this study was to evaluate the part that this pathogen agent takes in male infertility among maroccan population, to compare serological tests, sperm abnormalities, antisperm-antibodies and DNA research in semen. Microimmunofluorescence (MIF) was done for 139 patients, 124 were checked for sperm abnormalities, 87 for antisperm-antibodies and 92 for DNA research in sperm. The results showed that MIF is positive in 24,5%, 11% of the subjects in antisperm antibodies, 8% of them simultaneously in anti-Chlamydia and antisperm antibodies and 5 of them had sperm abnormalities. Azoospermy was more observed in positives subjects in Chlamydia trachomatis antibodies. C. trachomatis DNA was found in 7,6% and there was no association between the detection of C. trachomatis in semen specimens and the presence of anti-Chlamydia trachomatis, antibodies in serum. We conclude that, because of the complexity of the Chlamydia's physiopathology, association between several tests is necessary in male infertility workup.

Anti-HCV seroprevalence and risk factors of hepatitis C virus infection in Moroccan population groups.

Hepatitis C virus (HCV) seroprevalence and transmission routes were investigated in several groups of the Moroccan population. This study showed a low HCV seroprevalence in the Moroccan general population. However, haemodialysis patients and haemophiliacs were at higher risk of having HCV infection, since the prevalences were, respectively, 35.1 and 42.4% in comparison with the blood donors' prevalence (1.1%). These results indicated that parenteral exposure is the transmission pathway of HCV. To investigate the possibility of vertical HCV transmission, a cohort of healthy, unselected pregnant women were included in the study. A prevalence of 1% was found among them. Seven newborns were anti-HCV-positive, although, when RT-PCR was used to search for HCV RNA in their sera, none of them was viraemic. These data indicated that anti-HCV antibodies were passively acquired in these cases. We concluded that vertical transmission is absent when mothers are at low risk of contracting other parenterally or sexually transmitted diseases. Three percent of a group of patients of a centre for sexually transmitted diseases were repeatedly anti-HCV-positive, suggesting the possible sexual transmission of HCV. When screening 116 sera of anti-HIV-positive subjects, 19.8% were anti-HCV-positive. Furthermore, 17.9% of the sixty-seven patients who were proven to have sexually contracted HIV were also anti-HCV-positive. These data might reflect a likely cotransmission of these two viruses, hence suggesting HIV is a cofacter for HCV sexual transmission, as previously reported.

Cytogenetic survey of 53 Moroccan patients with acute myeloblastic leukemia.

We present a cytogenetic survey of chromosome aberrations for 53 Moroccan patients with acute myeloblastic leukemia (AML). Our 53 patients were 2 to 70 years old with 31 men and 22 women. The cytogenetic study was performed with the following three methods: first, relative proportion of normal (N) or abnormal (A) metaphases; second, presence of specific or random abnormalities; and third, karyotype complexity. Among 36 patients (67%) with a chromosomal abnormality, 18 (34%) showed a specific aberration. We have found t(9;22) in three patients (5%), chromosome 5 or 7 abnormality in six (11%), del(11)(q23) in three (6%), +21 in four (8%), and +8 in two (4%). Specific translocations associated with FAB type were found: t(8;21) with AML2 in 12 patients (23%) and t(9;11) with AML5 in one (2%). Rare abnormalities were also found: one patient with t(7;21) associated with AML2 and another patient with r(1) ring associated with AML1. We concluded that our study in a Moroccan population confirmed the relation between some specific abnormalities and the FAB classification. We have found a higher incidence for t(8;21) than usually described. Finally, we have identified chromosomal abnormalities t(7;21)(q22;p11) and r(1), rarely described before.