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From hypertransaminasemia to mucopolysaccharidosis IIIA.

Krawiec P, Pac-Kożuchowska E, Mełges B, Mroczkowska-Juchkiewicz A, Skomra S, Pawłowska-Kamieniak A, Kominek K - Ital J Pediatr (2014)

Bottom Line: The clinical picture strongly suggested mucopolysaccharidosis.The diagnosis of MPS IIIA was confirmed by decreased activity of heparan N-sulfatase in leucocytes.We strongly recommend screening for MPS III in children with severe behavioural abnormalities with hyperactivity, psychomotor or speech deterioration and failure to achieve early developmental milestones particularly with facial dysmorphism.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatrics, Medical University of Lublin, Racławickie 1, 20-059, Lublin, Poland. paulina.krawiec@wp.pl.

ABSTRACT

Unlabelled: ᅟ: Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmental/speech delay, attention deficit/hyperactivity disorder or autism. We report a case of a 5-year-old boy with developmental delay and behaviour problems admitted to the Department of Paediatrics due to chronic hypertransaminasemia. The patient developed normally until the age of 2 years when he was referred to a paediatric neurologist for suspected motor and speech delay. Liver function tests were unexpectedly found elevated at the age of 3.5 years. Physical examination revealed obesity, mildly coarse facial features and stocky hands. He showed mental retardation and mild motor delay. The clinical picture strongly suggested mucopolysaccharidosis. The diagnosis of MPS IIIA was confirmed by decreased activity of heparan N-sulfatase in leucocytes.

Conclusion: We strongly recommend screening for MPS III in children with severe behavioural abnormalities with hyperactivity, psychomotor or speech deterioration and failure to achieve early developmental milestones particularly with facial dysmorphism.

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Related in: MedlinePlus

Dysmorphic features of our patient. Facial dysmorphism (coarse facial features, the slightly depressed nasal bridge, prominent eyebrows, low set ears, malocclusion, full cheeks, wiry and dry hair and the short neck) and skeletal symptoms (genu valga, varus feet, and stocky hands) seen in our patient.
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Fig1: Dysmorphic features of our patient. Facial dysmorphism (coarse facial features, the slightly depressed nasal bridge, prominent eyebrows, low set ears, malocclusion, full cheeks, wiry and dry hair and the short neck) and skeletal symptoms (genu valga, varus feet, and stocky hands) seen in our patient.

Mentions: On physical examination, the boy appeared to have mildly coarse facial features, the slightly depressed nasal bridge, prominent eyebrows, low set ears, malocclusion, full cheeks, wiry and dry hair and the short neck (Figure 1). The boy had excessive lumbosacral lordosis, genu valga (knock-knee deformity) and varus feet. He had broad-base gait with anteversion. His hands were stocky with short fingers. The liver and the spleen were not palpable.Figure 1


From hypertransaminasemia to mucopolysaccharidosis IIIA.

Krawiec P, Pac-Kożuchowska E, Mełges B, Mroczkowska-Juchkiewicz A, Skomra S, Pawłowska-Kamieniak A, Kominek K - Ital J Pediatr (2014)

Dysmorphic features of our patient. Facial dysmorphism (coarse facial features, the slightly depressed nasal bridge, prominent eyebrows, low set ears, malocclusion, full cheeks, wiry and dry hair and the short neck) and skeletal symptoms (genu valga, varus feet, and stocky hands) seen in our patient.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4260237&req=5

Fig1: Dysmorphic features of our patient. Facial dysmorphism (coarse facial features, the slightly depressed nasal bridge, prominent eyebrows, low set ears, malocclusion, full cheeks, wiry and dry hair and the short neck) and skeletal symptoms (genu valga, varus feet, and stocky hands) seen in our patient.
Mentions: On physical examination, the boy appeared to have mildly coarse facial features, the slightly depressed nasal bridge, prominent eyebrows, low set ears, malocclusion, full cheeks, wiry and dry hair and the short neck (Figure 1). The boy had excessive lumbosacral lordosis, genu valga (knock-knee deformity) and varus feet. He had broad-base gait with anteversion. His hands were stocky with short fingers. The liver and the spleen were not palpable.Figure 1

Bottom Line: The clinical picture strongly suggested mucopolysaccharidosis.The diagnosis of MPS IIIA was confirmed by decreased activity of heparan N-sulfatase in leucocytes.We strongly recommend screening for MPS III in children with severe behavioural abnormalities with hyperactivity, psychomotor or speech deterioration and failure to achieve early developmental milestones particularly with facial dysmorphism.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatrics, Medical University of Lublin, Racławickie 1, 20-059, Lublin, Poland. paulina.krawiec@wp.pl.

ABSTRACT

Unlabelled: ᅟ: Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmental/speech delay, attention deficit/hyperactivity disorder or autism. We report a case of a 5-year-old boy with developmental delay and behaviour problems admitted to the Department of Paediatrics due to chronic hypertransaminasemia. The patient developed normally until the age of 2 years when he was referred to a paediatric neurologist for suspected motor and speech delay. Liver function tests were unexpectedly found elevated at the age of 3.5 years. Physical examination revealed obesity, mildly coarse facial features and stocky hands. He showed mental retardation and mild motor delay. The clinical picture strongly suggested mucopolysaccharidosis. The diagnosis of MPS IIIA was confirmed by decreased activity of heparan N-sulfatase in leucocytes.

Conclusion: We strongly recommend screening for MPS III in children with severe behavioural abnormalities with hyperactivity, psychomotor or speech deterioration and failure to achieve early developmental milestones particularly with facial dysmorphism.

Show MeSH
Related in: MedlinePlus