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.

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.

Case Report of Central Precocious Puberty in a Female: Role of Environmental Pollutants?

A 5-year-old girl was brought to Department of Pediatric Endocrinology and Diabetes for premature breast development since 4 months. Her medical antecedents and family history were uneventful. From investigations she was diagnosed as a case of central precocious puberty.

Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco.

Background: Rapid and accurate diagnosis of mucopolysaccharidoses (MPS) is still a challenge due to poor access to screening and diagnostic methods and to their extensive clinical heterogeneity. The aim of this work is to perform laboratory biochemical testing for confirming the diagnosis of mucopolysaccharidosis (MPS) for the first time in Morocco.

Methods: Over a period of twelve months, 88 patients suspected of having Mucopolysaccharidosis (MPS) were referred to our laboratory.

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.