[Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco]. / Diagnostic et suivi de la phénylcétonurie par LC-MS-MS au Maroc.

Phenylketonuria is an inherited metabolic disease, of autosomal recessive transmission, due to the enzymatic deficit of phenylalanine hydroxylase, which transforms phenylalanine into tyrosine. The deficit leads to an increase in phenylalanine and its metabolite, phenylpyruvic acid which is responsible for the toxicity and symptomatology characterized by serious neurological disorders. Through this work, we wanted to show: 1) the profile of phenylalanine concentrations in a cohort of 52 Moroccan phenylketonuric patients diagnosed in our laboratory by Tandem Mass Spectrometry coupled with HPLC; 2) The value of biological monitoring in the nutritional management of phenylketonuric patients. The results showed that phenylketonuria diagnosed in Morocco is characterized by a predominance of classic and moderate phenylketonuria in both sexes with a median concentration = 1,107 µmol/L, 26 times higher than that observed in the control group (median value = 42 µmol/L - p < 0.0001). The phenylalanine and tyrosine concentrations of 33 phenylketonuric patients regularly monitored by our laboratory highlights the effectiveness of the hypoproteic diet with a marked improvement in psychomotor development, a significant regression in behavioral disorders and an encouraging overall development of children. Conclusion: phenylketonuria is a disease that would be frequent in Morocco but it is still diagnosed at the stage of severe mental retardation. A better management of these patients could be considered when setting up a nation-wide neonatal screening program.

[Erythrophagocytosis by blast cells and de novo T cell LAL without cytogenetic abnormalities in a Moroccan patient]. / Un cas marocain d'érythrophagocytose blastique et LAL T de novo sans anomalie cytogénétique.

Erythrophagocytosis by blast cells is due to hyperactivation of blast cells. Erythrophagocytosis is associated with T cell myeloid hemopathies (8;16). This study shows an exceptional case of erythrophagocytosis by blast cells in a patient with acute T-lymphoblastic leukemia without cytogenetic abnormalities. We here report the case of A.Z, aged 19 years presenting with febrile syndrome with dizziness and phosphenes, tumor syndrome with amygdala and gingival hypertrophy. Blood count revealed hyperleukocytosis (399.5 G/L), with aregenerative anemia (Hb: 9.3 g/dl) and thrombocytopenia (platelet count: 40 g/L). Myelogram showed 90% of blast cells (MPO-negative) with erythrophagocytosis by blast cells images. Immunophenotyping confirmed T-cell LAL. Cytogenetic analysis was normal. Erythrophagocytosis by blast cells in patients with T-cell LAL appears to be a separate entity, hence the importance of images on diagnosis, prognosis and treatment of T-cell LAL.