Vassilios Lougaris, Vincenzo Salpietro, Maricia Cutrupi, Manuela Baronio, Daniele Moratto, M. R. Pizzino, Kshitij Mankad, Silvana Briuglia, Carmelo Salpietro & Alessandro Plebani
We report the case of a 15 years old girl with Proteus syndrome and describe novel immunological findings in PS. The index patient, born to non consanguineous parents, was born via caesarian section at 36 weeks of gestation, with normal weight and length (3500 g and 50 cm, respectively). Diagnosis of PS was made at the age of 2 years, with progressive overgrowth over time. The index patient presented multiple lesions affecting the central nervous and circulatory system, lung, skeleton, limbs and abdominal organs. The phenotypic examination showed dolichocephaly, hyperostosis of the skull in the right fronto-parietal area, facial dysmorphic features with facial asymmetry and ptosis of right eye, depressed nasal bridge, wide and anteverted nares, oligodontia and multiple caries, long neck. The patient presented thin skin, adipose dysregulation with poorly represented subcutaneous adipose and a disproportionate, asymmetric overgrowth of the limbs. The index patient presented important overgrowth of the feet (Fig. 1a, left panel) with greater growth of the calcaneus and cuboid, especially of the left foot (Fig. 1a, right panel). The patient also presented severe kyphoscoliosis (Fig. 1b) and length discrepancy and macrodactyly in the III and IV fingers of right hand (Fig. 1c), emphysema, pulmonary fibrosis, syringomyelic cavity of about 2 cm in the section C3-D4, and ovarian cystadenomas. During follow-up, the patient developed portal thrombosis at 12 years of age with portal splenic and mesenteric hypertension and liver atrophy and suffered from a transient ischemic attack (TIA) at the age of 13.
Brain magnetic resonance imaging (MRI) showed cortical dysplasia with marked thickening of the skull in the right fronto-temporal (Fig. 1d, e and f) which increased in volume over 4 years reaching 44 mm with significant compression on the midbrain, brain parenchyma and cerebral edema, hydrocephalus and proptosis of the right eye (Fig. 1e). The significant progression of the lesions determined respiratory failure, coma, and subsequent death of the patient.
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