![]() ![]() Proteus seems to affect males more than females (1.9: 1) and has serious complications including premature death scoliosis with megaspondyly abnormalities of the CNS opthalmologic complications (especially strabismus) pulmonary, otolaryngologic, and dental complications and elongation of the long bones with thinning ( 91). ![]() Postnatal overgrowth of bone and soft tissue increases at a faster rate than the rest of the body ( 91), and this overgrowth tends to plateau at adolescence ( 92). These authors emphasized that Proteus syndrome had asymmetric overgrowth with some asymmetry present from birth. ( 91) concluded that there was overlap with other overgrowth syndromes. Among 205 reported cases of Proteus syndrome, which were reviewed to reassess the application of published diagnostic criteria, Turner et al. Overgrowth and asymmetry are occasionally present at birth in 17.5% of cases ( 91). ![]() Proteus syndrome consists of disproportionate or segmental overgrowth of limbs and macrocephaly associated with cranial hyperostoses, plantar hyperplasia hemangiomas, lipomas or lymphangiomas, verrucous epidermal nevi, and variable psychomotor deficiency. Rimoin, in Emery and Rimoin's Principles and Practice of Medical Genetics, 2013 38.3.2.2 Proteus Syndrome The association of Proteus syndrome with HME and CHHL is now explained by common somatic mutations in the PIK/AKT/mTOR pathway ( Lindhurst et al., 2011 Lee et al., 2012). ![]() Epilepsy can be severe ( Rizzo et al., 1990) however, it is not investigated in many reports and HME is uncertain because of lack of diagnostic study. The most frequent association is HME (De Lone et al., 1990 Rizzo et al., 1990 Sarnat et al., 1993 Dietrich et al., 1998 Cross, 2005 Demir, 2008 Jackson et al., 2010 Kaduthodil et al., 2012). Another autopsy report in 1907 by Webster described a child with CHHL and HME ( Webster, 1907).Ĭentral nervous system involvement occurs in about 40%, with cognitive deficit in about 30% ( Turner et al., 2004). Eve mentioned left cerebral enlargement at autopsy, suggesting HME. Proteus syndrome was described in the 19th century in accounts of Joseph Merrick, the “Elephant Man” (1862–1898), who was mistakenly diagnosed as having neurofibromatosis reports from Eve (1883) and Finlayson (1884) correspond to Proteus syndrome with CHHL. Proteus syndrome is caused by a somatic activating mutation in AKT1, implicating activation of the PI3K–AKT pathway ( Lindhurst et al., 2011). Linear epidermal nevi (keratinocytic) are characteristic they can develop in several parts of the body but most frequently in the neck. This patchy or mosaic overgrow is not present at birth it typically starts in infancy, as does the scoliosis ( Biesecker, 2006). The heart, however, is spared, as in all KEN syndromes. Proteus syndrome is a classic neurocristopathy because most of the tissues involved derive from the neural crest. Proteus syndrome (PS) is a complex hamartomatous disorder consisting of disproportionate, asymmetric overgrowth of any tissue of the body, particularly the skeleton, cerebriform connective tissue nevi, epidermal nevi, vascular malformations, and dysregulated adipose tissue ( Cohen, 2005 Biesecker, 2006). Sarnat, in Handbook of Clinical Neurology, 2015 Proteus Syndrome Ntractable epilepsy, Linear nevi, Hemimegalencephaly, Hemispherectomy, Proteus syndromeĠ1.Laura Flores-Sarnat, Harvey B. The seizure then was resolved after hemispherectomy procedure. Triple antiepileptic drugs were already given as well as the ketogenic diet, but the seizures persisted. Craniocervical MRI revealed hemimegalencephaly right cerebral hemisphere. We report a 1-month-old male baby referred to Pediatric Neurology Clinic Soetomo Hospital, Surabaya, Indonesia in 2014 presented recurrent seizures since birth with asymmetric dysmorphic face with the right side larger than the left, subcutaneous mass and linear nevi. Central nervous system manifestations were reported in about 40% of the patients including hemimegalencephaly and the resultant hemicranial hyperplasia, convulsions and mental deficiency. Proteus syndrome is a rare overgrowth disorder including bone, soft tissue, and skin. ![]()
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