Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly
نویسندگان
چکیده
Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.
منابع مشابه
Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome.
BACKGROUND The diagnostic criteria of Proteus syndrome include various lesions of localized overgrowth such as digital gigantism, hemihyperplasia with unilateral macrocephaly, epidermal nevus, and mesodermal hamartomas such as lipoma, lymphangioma, hemangioma, or fibroma. Hyperplasia of the plantar dermal tissue may result in a characteristic cerebriform appearance. However, hypoplastic lesions...
متن کاملKlippel-Trenaunay-Weber Syndrome with Hemimegalencephaly; Report of a Pediatric Case
BACKGROUND Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare neurocutaneous syndrome. Hemimegalencephaly (HME) and seizure episodes have been reported previously in a few cases with KTWS. CASE PRESENTATION We report here a 3 day-old girl with partial motor seizures, extensive port-wine staining and mild structural deformities in the feet, and a hemimegalencephaly. CONCLUSION Occurrence of p...
متن کاملSegmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.
A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko's lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts ...
متن کاملHemimegalencephaly with polymicrogyria – a case report
Hemimegalencephaly on magnetic resonance imaging scan (MRI) consists of cortical gray matter almost uniformly abnormal, areas of increased thickness of the cortical gray matter (GM), abnormal gyral patterns, blurring of the grey-white matter transition, atrophy or hemispheric hypertrophy, demyelination, gliosis. We present a case of ten-year-old boy with a history of infantile spasms and develo...
متن کاملHypomelanosis of Ito
Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 15 شماره
صفحات -
تاریخ انتشار 2014