RESUMEN
Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20 patients. MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate. So far only seven mutations in the GNS gene have been reported. The clinical phenotype of 12 new MPS IIID patients from 10 families was studied. Mutation analysis of GNS was performed in 16 patients (14 index cases). Clinical signs and symptoms of the MPS IIID patients appeared to be similar to previously described patients with MPS III. Early development was normal with onset of behavioral problems around the age of 4 years, followed by developmental stagnation, deterioration of verbal communication and subsequent deterioration of motor functions. Sequence analysis of the coding regions of the gene encoding GNS (GNS) resulted in the identification of 15 novel mutations: 3 missense mutations, 1 nonsense mutation, 4 splice site mutations, 3 frame shift mutations, 3 large deletions and 1 in-frame small deletion. They include the first missense mutations and a relatively high proportion of large rearrangements, which warrants the inclusion of quantitative techniques in routine mutation screening of the GNS gene.
Asunto(s)
Mucopolisacaridosis III/genética , Sulfatasas/deficiencia , Sulfatasas/genética , Adolescente , Adulto , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Mutación/genética , Fenotipo , Adulto JovenRESUMEN
Haematomas were observed in three male infants under 1 year of age. In the first case, no suspicion regarding child abuse was raised, but, in retrospect, the appearance of haematomas coincided with the times he had been with a childminder. When he was admitted to hospital for a different reason, namely a serious airway infection, the causal relationship could no longer be established. In the second case, the grandparents told the general practitioner about their suspicion of maltreatment. CT revealed inflicted traumatic brain injury. In the third case, inflicted traumatic brain injury was also observed, in addition to a corner fracture of the tibia. Child abuse is a widespread problem that is not always recognized by physicians. Haematomas in infants should be evaluated carefully with thorough investigations for bleeding disorders on one hand and the possibility of child abuse on the other. A careful history concerning the circumstances of injury is essential, keeping in mind the age and development of the child. Localization and patterns of haematomas should also be evaluated. Haematomas in children who do not crawl or walk should lead to suspicion of child abuse. In the case of child abuse, direct action should be taken to ensure the safety of the child.