Aberrant Mongolian spots as a clue to early diagnosis of Hunter syndrome

AMARTINO H; LUNA PAULA; FAINBOIM ALEJANDRO; ROZENFELD PA

Simposio; 12th Annual WORLD Symposium; 2016

Lysosomal Disease Network

Hunter syndrome (MPS II) is an xlinkedlysosomal disease characterized by multisystemic involvement and a progressive clinicalcourse. Patients with MPS II appear normal at birth and the first signs and symptoms includingairway obstruction, chronic rhinorrhea,recurrent otitis and herniausuallyappear during early childhood. Due to the unspecific nature of these first symptoms the diagnosis isoften overlooked.We describe three patients in whom the MPSII diagnosis was suspected because of the presence of extensive Mongolian spots.Patient # 1 was a Chinese 2yearoldboy, with no familial history of MPS II, who was referred to the paediatric dermatologist because ofdermal melanocytosis with both large and lenticular lesions, affecting not only the back but also the abdomen. The lesions tended toprogress with time. No other signs of MPS were evident. After abnormal urinary GAGs result, the diagnosis was confirmed by iduronate2sulphatase(ID2S) assay in leukocytes.Patient # 2 was an Argentinian 7montholdboy with no family history of MPS II. He was also suspected by the pediatric dermatologistafter extensive Mongolian spots with identical characteristics to those of patient #1. Urinary GAGS and ID2S activity in leukocytesconfirmed the diagnosis. Genotyping is pendingPatient #3 was diagnosed at age 7 months, presenting dermal melanocytosis big lesions in back, abdomen and distal part of left leg asthe only symptom.IDS mutation:c.613G>CDiscussion: Mongolian spots in MPS II patients seems to have a more extensive and atypical distribution than frequently seen in thegeneral population. In addition in MPS II the spots tend to be progressive instead of regressive during childhood.CONCLUSION Recognition of aberrant dermal melanocytosis lesions (Mongolian spots) as a very early sign of MPS II could be ofclinical value for patient detection in some cases before more typical symptoms and signs become evident