ABSTRACT
Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma-coloboma syndrome are described. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Coloboma/diagnostic imaging , Eyelid Neoplasms/diagnostic imaging , Hamartoma/diagnostic imaging , Lipoma/diagnostic imaging , Smooth Muscle Tumor/diagnostic imaging , Abnormalities, Multiple/pathology , Coloboma/pathology , Eyelid Neoplasms/pathology , Eyelids/abnormalities , Eyelids/diagnostic imaging , Female , Hamartoma/pathology , Humans , Infant , Karyotyping , Lipoma/pathology , Radiography , Smooth Muscle Tumor/pathologyABSTRACT
We report a Mexican girl showing the full blown clinical picture of mucopolysaccharidosis type II (MPSII). Iduronate-2-sulfatase (IDS) activity was low and she carried a heterozygous de novo c.1327C>T transition in exon 9, that changes codon 443 for a premature stop (TGA; p.Arg443(*)). Analysis of X-chromosome inactivation in androgen receptor (AR) locus showed a highly skewed ratio of 92:8 suggesting a functional hemizygosity with dominant expression of the mutant IDS and explaining the disease manifestation. This is one of the rare cases of females affected by MPSII due to the combined effect of a skewed X-chromosome inactivation and a de novo IDS mutation. We recommend that clinicians should consider the diagnosis of MPSII even in a girl without positive family history for this condition.
