P76 - 2450: Aspartylglucosaminuria: A rare cause of intellectual disability in children

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• 作者：A. Kartal
• 刊名：European Journal of Paediatric Neurology
• 出版年：2015
• 出版时间：May 2015
• 年：2015
• 卷：19
• 期：supp_S1
• 页码：S115
• 全文大小：81 K

文摘

Aspartylglucosaminuria is a rare autosomal recessive lysosomal storage disorder characterized by the deficinecy of the enzyme aspartylglucosaminidase (AGA) leading early to a progressive intellectual disability. Aspartylglucosaminuria presents with progressive intellectual disability within the first years of life following a normal early infantile development. Aspartylglucosaminuria belongs to the group of disorders commonly referred to as the Finnish disease heritage, but has rarely been reported in Turkish patients.

Case

We report a 12 year-old boy who presented with psychomotor retardation and behavioral abnormalities. He was the third child of a couple who were first cousins. This 12 year old boy was the second child of a couple who were first cousins. He was born at term by spontaneous normal delivery. The parents were healthy. However, his mother had the history of 2 miscarriages in the first trimester. Though apparently normal at birth, their development milestones were slow. The boy showed mental retardation and mild motor delay. His speech was limited simple words (i.e. mum, dad). On physical examination, the boy appeared to have coarse facies, frontal bossing, prominent nose. The liver and the spleen were not palpable. Complementary test included: Karyotype, X-fragile: normal; blood and urine metabolic screening (lactate, pyruvate, ammonia, amino acids, organic acid, mucopolysacharides) normal; Urinary oligosaccharide analysis detected an abnormal excretion of aspartylglucosamine. Brain MRI showed J-shaped sella turcica, mildly widening of the lateral ventricles with thinning of the corpus callosum and enlarged perivascular spaces in the bilateral parietal region. Assay for AGA enzyme in fibroblasts reveal a very low activity, establishing a definitive diagnosis of AGU.

Conclusions

Clinical diagnosis of AGU is difficult; the initial presentation may be subtle and signs may be variable, resulting in frequent delays in diagnosis. Screening for aspartylglucosaminuria should be done in all patients with unexplained psychomotor retardation.