Sturge–Weber syndrome type II with contralateral Klippel–Trenaunay syndrome: A rare case report

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Phakomatosis, or neurocutaneous syndromes, comprises a group of genetic disorders with abnormalities involving primarily the skin and central nervous system. Skin lesions usually appear early in life, while the neurological abnormalities show a delayed onset. This group of disorders includes neurofibromatosis, tuberous sclerosis, Sturge–Weber syndrome (SWS), Klippel–Trenaunay syndrome (KTS), von Hippel–Lindau syndrome, PHACE syndrome, ataxia telangiectasia, linear nevus syndrome, hypomelanosis of Ito, and incontinentia pigmenti. SWS is a rare sporadic phakomatosis that comprises a classical triad of port wine stain (PWS), facial angiomas, and leptomeningeal angiomas with or without glaucomatous changes. KTS is also included under phakomatosis, which is characterized by the coexistence of venous abnormalities, limb hypertrophy, and cutaneous and capillary malformations.^[1-3] Overlapping features of SWS and KTS in a single patient are extremely rare, as both syndromes occur almost always sporadically. Here, we report a case of a 28-year-old male with overlapping features of both disorders and bilateral refractory childhood glaucoma.

A 28-year-old male reported to our dermatology outpatient department with reddish discoloration over the face, left upper limb, left side of the trunk, and right lower limb, which had progressively increased since birth. The patient also complained of diminished vision over the years and serpiginous swellings over the trunk and both lower limbs, gradually increasing in size over the years. Physical examination revealed a port-wine stain over the left side of his face, extending to involve the left upper limb, the left side of the trunk, and the right lower limb, with grayish discoloration of the episclera. Relative hypertrophy was noted between his left upper limb and right lower limb. There was a relative difference of 1.5 cm and 1 cm in the length of upper limbs and lower limbs, respectively, and 1.5 cm and 2.5 cm in the circumference of the size of upper limbs and lower limbs, respectively. Dilated serpiginous superficial veins were observed mainly over the medial aspect of both lower limbs and the anterior abdominal wall [Figure 1a-c].

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Figure 1

(a): Extensive port-wine staining over the left side of the face and neck; (b) Port-wine staining extending to involve the left upper limb, the left side of the trunk, and the right lower limb; (c) The left upper limb and right lower limb showing relative hypertrophy. Dilated serpiginous superficial veins are noted mainly over the medial aspect of both lower limbs and the anterior wall of the trunk, primarily the abdomen.

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All the baseline investigations were normal. Ultrasonography of the abdomen/pelvis revealed no organomegaly. Optical coherence tomography revealed cupping of the disc with tortuous retinal blood vessels, more on the left side than the right, secondary to glaucoma. The cup: disc ratio was 0.4–0.5 on the right and 0.7 on the left [Figure 2]. Magnetic resonance imaging of the brain with angiography revealed no abnormality. Magnetic resonance angiography of the lower extremities and abdominal vessels revealed multiple varicosities along the medial aspect of both lower limbs involving the great saphenous vein territory. Dilated perforators were noted in the mid-calf bilaterally (left > right). The saphenofemoral junction and saphenopopliteal junction were competent [Figure 3]. The patient was diagnosed with SWS type II simultaneously with bilateral refractory glaucoma and contralateral KTS in accordance with the overlapping findings on physical examination and neurological and ophthalmologic imaging of these closely related diseases, which share a number of similar features.

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Figure 2:

Optical coherence tomography showing glaucomatous changes in the left eye with a cup-to-disc ratio of 0.6–0.7 (black arrow).

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Figure 3:

Magnetic resonance angiography of lower extremities and abdominal vessels revealed multiple varicosities in subcutaneous planes along the medial aspect of both lower limbs along the great saphenous vein territory. Dilated perforators were noted in the mid-calf bilaterally (left > right). The saphenofemoral junction and saphenopopliteal junction were competent.

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Klippel–Trenaunay–Weber syndrome, which exhibits features of KTS and SWS, has been rarely reported in the literature. This syndrome, with widespread clinical features, can present in infancy, childhood, or adulthood. The diagnosis, as well as management, requires a multidisciplinary approach. In recent years, with the discovery of mutations in the phosphatidylinositol-4,5-bisphosphate kinase3-kinase gene, KTS has been grouped under similar overgrowth syndromes known as PIK3CA-related overgrowth spectrum.^[1,2] Overgrowth is seen in both bony and soft tissues.^[4] Overexpression of the angiogenic factor VG5Q and a de novo supernumerary ring chromosome are some of the genetic defects that contribute to the development of KTS. PWS in this disorder occurs in the distribution of the fifth nerve (VI, VII, VIII). Patients present with glaucoma that occurs secondary to choroidal vascular lesions. Seizures, often associated with leptomeningeal angiomas, can occur at an early age. Other features seen are neurologic deterioration and developmental delay. A somatic mosaic mutation in the GNAQ gene on the long arm of chromosome 9 has been strongly linked to SWS. It can be classified into three distinct varieties: Classic, bi-symptomatic, and forme fruste^[3-6] [Table 1].

In our case, the patient presented with PWS (nevus flammeus) over the left side of his face, extending to involve the left upper limb, the left side of the trunk, with grayish discoloration pigmentation of the episclera and bilateral refractory congenital glaucoma, which were consistent with SWS type II. He also had PWS over the right lower limb, with associated hemihypertrophy and dilated superficial veins affecting both lower limbs and the trunk, which favors KTS.

To our knowledge, only a few cases have been reported in the literature. Kentab^[6] in 2016 reported a rare coexistence of SWS and KTS in a child having neurological manifestations such as epilepsy, mental subnormality, or hemiparesis, with PWS or capillary hemangioma and enlarged limbs. The uniqueness of this case was that the PWS was on the left side of the upper limb and the right side of the lower limb. To our knowledge, contralateral KTS with Type II SWS in the same patient has rarely been documented.