LETTER TO THE EDITOR
|Year : 2015 | Volume
| Issue : 1 | Page : 87-88
A rare paediatric case of Klippel-Trenaunay- Weber syndrome
Jennifer A Howes, Guru Setty, Arif Khan, Nahin Hussain
Department of Paediatric Neurology, Children's Hospital, University Hospitals of Leicester, Leicester, United Kingdom
|Date of Web Publication||2-Apr-2015|
Jennifer A Howes
Department of Paediatric Neurology, Children's Hospital, University Hospitals of Leicester, Leicester
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Howes JA, Setty G, Khan A, Hussain N. A rare paediatric case of Klippel-Trenaunay- Weber syndrome. J Pediatr Neurosci 2015;10:87-8
The coexistence of Sturge-Weber syndrome (SWS) and Klippel-Trenaunay syndrome (KTS) is considered rare, with only a handful of reported cases found in the literature. ,,,,,,, We believe that the unusually extensive port wine stain involving the left upper and lower limbs and ipsilateral upper trunk along with contra lateral limb hypertrophy renders this case as an example of such occurrence. After reviewing the literature, this case to the best of our knowledge, is the only example of an overlap of SWS and KTS in which there are contra lateral port wine stain and hemi hypertrophy, occurring in conjunction with intractable seizures and global developmental delay.
We report a case of a 13-year-old boy who was born with extensive port wine stains over all divisions of the left trigeminal nerve [Figure 1], left chest wall, left upper limb, and left lower limb. He has suffered from intractable seizures since 5 months of age in association with global developmental delay. In terms of his developmental milestones, he was sitting by 1-year of age and walking at 4 years. He can follow simple instructions but his speech consists of babbling sounds and a few words. Formal hearing test was normal.
|Figure 1: Patient's face showing extensive port-wine stain in the left trigeminal nerve distribution|
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Further examination revealed relative hypertrophy of the right lower limb, right sided increased tone, hemiplegic gait and hemiparesis. He could not raise his arm above shoulder level and demonstrated poor right hand function, with no active wrist extension or pronation and was unable to grip. Reflexes were normal throughout the upper and lower limbs and plantars were down-going bilaterally. Eye examination showed right homonymous hemianopia with fundoscopy demonstrating progressive glaucoma and cupping of the left optic disc.
Magnetic resonance imaging (MRI) scan revealed atrophy of the left cerebral hemisphere and pial enhancement over left temporal and occipital lobes. Electroencephalography showed multiple epileptiform foci on both sides and excess bilateral slow wave activity.
Sturge-Weber syndrome has an incidence of 1 person/50,000.  It is characterised by nevus flammeus (port-wine stains) involving the skin of the forehead and upper eyelid and leptomeningeal angiomatosis affecting one or both hemispheres. Most patients with brain involvement present with epileptic seizures and cognitive delay. Some patients may also develop hemiparesis, hemiatrophy, visual field defects and glaucoma. 
Klippel-Trenaunay syndrome is rare, with an estimated incidence of 2-5 people/100,000.  It is characterised by a triad of cutaneous haemangiomata (usually unilateral and involving an extremity), venous varicosities and hyperplasia of the soft tissue and bone in the affected limb. Not all features need to be present for a diagnosis to be made. 
Although the coexistence of SWS and KTS is considered rare, we feel that the unusually extensive nevus flammeus involving the face, left upper and lower limbs and ipsilateral upper trunk along with right limb hypertrophy, renders this case as an example of such occurrence. Of note, our patient showed no associated venous varicosities.
A Medline literature search revealed a handful of cases reporting this overlap. Four publications reported nevus flammeus with ipsilateral limb hypertrophy. ,,, In two of the reports, these findings were noted in conjunction with seizures. , However, these were not stated to be intractable or particularly severe. Although upper airway obstruction is not a prominent feature in either of these diseases, there is a report of two patients with coexisting SWS and KTS requiring tracheostomy due to severe airway compromise.  There is one previous case report,  describing a premature infant, born in the UK with extensive capillary malformation covering the majority of the face, head, both upper limbs, right lower limb, back and trunk with associated aplasia of the vena cava. However, no skeletal hyperplasia was noted, and the child showed normal development at 1-year of age with no history of seizures. Our case therefore, to the best of our knowledge, is the only example of an overlap of SWS and KTS in which there are contra lateral nevus flammeus and hemi hypertrophy, occurring in conjunction with intractable seizures and global developmental delay.
Our patient has a rather unusually extensive nevus flammeus. In the context of intractable seizures, we hypothesize that the severity of the disease is proportional to the extent of the skin lesion. There are no previous reports or studies discussing this.
Our patient shows marked discrepancy between receptive and expressive language. Theoretically, lesions of the inferior frontal dominant hemisphere may produce such expressive dysphasia. However, there is poor correlation in this case, as there is more apparent damage at the parietal temporal regions as evidenced by epileptiform discharges at parietal regions and MRI changes.
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