Klippel-Trenaunay syndrome: frequency of cerebral and cerebellar hemihypertrophy on MRI

Abstract

We examined 11 patients, clinically and radiographically diagnosed as having the Klippel-Trenaunay syndrome (KTS) by MRI. There were four females and seven males, aged 3-51 years (mean 21 years). Two had clear asymmetry of the cerebral and cerebellar hemispheres. The thickness of the grey matter was normal, without sulcation abnormalities, but the thickness of the white matter was increased; the size of the ipsilateral ventricle was normal. These patients had hypertrophy of the leg and a cutaneous haemangioma on the same side as the brain abnormality. No patient had an intracranial vascular malformation, unilateral megalencephaly, cerebral atrophy or hydrocephalus. The prevalence of cerebral hemihypertrophy in our series of patients with KTS was thus 18%.

The Microcephaly-Capillary Malformation Syndrome in Two Brothers With Novel Clinical Features

“…8 However, a majority of them, opposite to our cases, are associated with larger head circumference or even megalencephaly. [9][10][11] These cutaneous changes are invariably present in all reported patients, being the hallmark of the disease. In addition, we observed two other forms of cutaneous stigmata that have not been reported in other patients: cutis aplasia and whirling hair along with rounded anterior hairline shape in the older brother.…”

The microcephaly‐capillary malformation syndrome

“…Some of these are associated with megalencephaly or hemimegalencephaly such as Klippel–Trenaunay syndrome (OMIM#149000) [Torregrosa et al, 2000], macrocephaly-capillary malformation syndrome (OMIM#602501) [Moore et al, 1997; Clayton-Smith et al, 1997], and PTEN -related disorders such as Bannayan–Riley–Ruvalcaba syndrome OMIM#153480), Cowden syndrome (MIM#158350), and Proteus syndrome (OMIM#176920) [Eng, 2003]. Clearly, this is a novel syndrome of generalized capillary malformations and severe congenital microcephaly with poor somatic growth.…”

Congenital Hemihypertrophy with Hemihypertrichosis

“…Klippel‐Trenaunay syndrome is characterized by nevus flammeus, varicose veins‐venous malformations, and soft tissue hypertrophy in the extremities (4, 5). Our case did not have any findings other than hemihypertrophy that could support the syndrome.…”

“…Hemihypertrophy also accompanies Proteus syndrome. Partial gigantism including particularly the hands and feet, plantar hyperplasia, hemangiomas, lipomas, linear verrucose epidermal nevus, patchy dermal hypoplasia and hypertrophy in long bones are expected findings (5). Our case did not have any attributes specific to Proteus syndrome other than hypertrophy.…”