Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy.

Sphingolipidoses are a group of metabolic diseases in which lysosomal hydrolases dysfunction disrupt normal sphingolipids' metabolism, leading to excess accumulation in cellular compartments and excretion in urine. These pathologies represent a significant burden among Moroccan population, for which an easy access to enzymatic assays and genetic tests is not guaranteed. Parallel analytical methods thus have to be developed for preliminary screening. In this study, 107 patients were addressed to the metabolic platform of the Marrakesh Faculty of Medicine for diagnosis confirmation. Thin-Layer Chromatography was used as a first step to perform chemical profiling of the patients' urinary lipids, allowing 36% of the patients to be efficiently oriented towards the adequate enzymatic assay. UPLC-MS/MS analyses of urinary sulfatides excreted in urines patient had been used to control the reliability of TLC analysis and to obtain more accurate information related to the sulfatides isoforms. This analytical process combining TLC with UPLC-MS/MS has enabled rapid and appropriate patient management in a reduced time and with reduced resources.

HAV Infection Associated with Hemophagocytic Syndrome.

Hemophagocytic syndrome is a rare disease that can cause severe illness and death. This condition is caused by the presence of antibodies against the hepatitis A virus. A positive anti-IGM antibody was identified in our 7-year-old patient with severe hepatitis A. A week after the hepatitis A was diagnosed, the patient experienced pancytopenia, which was worsened by prolonged fever. He was then diagnosed with macrophage activation syndrome. The treatment with steroids improved the clinical and biological evolution of the condition.

Late Treatment and Recurrence of Kawasaki Disease in a Moroccan Infant.

INTRODUCTION: While the diagnosis of typical form of Kawasaki disease (KD) is obvious, this multifaceted disease continues to surprise us. We report the case of a recurrent Kawasaki disease in an infant. CASE: At the age of 13 months, the infant was diagnosed with complete Kawasaki disease; he presented with prolonged fever, bilateral conjunctivitis, enanthem, exanthema, edema of the lower limb, peeling, and biological inflammatory syndrome. He was treated with intravenous immunoglobulin (IVIG) associated with a high dose of aspirin and then an antiplatelet dose with a good clinical-biological evolution. The echocardiography was normal. Seven months later, the patient was again admitted, in a similar picture: a prolonged fever evolving for 7 days, bilateral conjunctivitis, enanthem, cervical adenopathy of 1.5 cm/1 cm, scarlatiniform erythema, pruriginous of the trunk and limb, and peeling of the toes, with indurated edema of the hands and feet. The rest of the examination was normal except the irritability. The diagnosis of recurrent KD was made according the five criteria of the American Heart Association. The echocardiography was normal again. The infant received IVIG with good outcome. CONCLUSION: Despite its rarity, the possibility of recurrence of KD should be known by clinicians, so as not to delay the specific management of vasculitis whose stakes in terms of prevention of coronary artery lesions are well known. Our case confirms the possibility of this recurrence.