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[Mucopolysaccharidoses in children. Experience of a general pediatric service. 11 cases]
M Chaabouni1, M Ben Slimen, M Boudawara
1Service de pédiatrie, Hôpital Hedi Chaker Sfax.
Insights
Mucopolysaccharidoses (MPS) are serious hereditary diseases. Neurological complications significantly impact MPS severity, necessitating early diagnosis and intervention for affected children.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Context:
- Mucopolysaccharidoses (MPS) are a group of rare, inherited metabolic disorders.
- Neurological complications are a primary driver of disease severity in MPS.
- A 12-year retrospective study was conducted at Sfax University Hospital's pediatric department.
Purpose:
- To analyze the clinical presentation and characteristics of mucopolysaccharidosis cases.
- To document the prevalence of different MPS subtypes within the studied cohort.
- To evaluate the diagnostic and therapeutic approaches for MPS in a pediatric setting.
Summary:
- The study identified 11 pediatric cases of MPS, including Hurler disease, Sanfilippo syndrome (types II A and III B), Morquio A, and Maroteaux Lamy.
- Common clinical findings included growth delay (81.8%), craniofacial dysmorphism (100%), spinal deformities (63.6%), psychomotor regression (54.5%), hepatosplenomegaly (36.4%), and corneal opacities (45.4%).
- Consanguinity was high (90%), with disease onset between 6 months and 4 years.
Impact:
- This study highlights the significant clinical burden of MPS in children, particularly neurological and physical manifestations.
- Findings underscore the importance of early diagnosis, genetic counseling, and antenatal diagnosis for managing MPS.
- The limited therapeutic options emphasize the need for further research into effective treatments for these debilitating hereditary diseases.
Abstract:
The mucopolysaccharidosis are hereditary diseases. The neurological attack constitutes the principal factor of gravity of these affections. We conducted a retrospective study over a period of 12 years (1988-1999) in the pediatric department of Sfax University Hospital. This study allowed us to observe 11 cases of mucopolysaccharidosis confirmed by an enzymatic proportioning, with 3 cases of Hurler disease (IH), 3 cases of the disease of sanfilippo, (two II A and one III B), 3 cases of the disease of Morquio A (type IVA) and 2 cases of the disease of Maroteaux Lamy (type VI). A sex ratio of 1.75. The parents were cousins in 90% of the cases. The age of revelation ranged between 6 months to 4 years. The clinical examination has found a staturo-pondral delay in 81.8% of the cases, a craniofacial dysmorphy in 100%, deformations of the rachis in 63.6% of the cases, a psychomotor regression in 54.5% of the cases, a medullary compression in 18% of the cases, hepatosplenomegaly in 36.4%, and corneal opacities in 45.4% of the cases. The therapeutic treatment was limited to the symptomatic measures with genetic consulting and antenatal diagnosis.