Article
A 56-year--old woman came for her annual dental check-up. A deep red mark on her face extending ipsilaterally from the right malar region to the lateral part of the nose, upper and lower eyelid and upper lip was noted (Figure 1). Oral examination showed the lesion also on the upper right gingivae and buccal mucosa to the mid-line. This mark was present since birth but had changed in colour from pink to deep purple over the last 30 years. There were no similar lesions in other parts of her body or in her close relatives. The patient suffered from chronic headaches, hypertension and glaucoma. She was a light smoker (5–6 cigarettes/day) and non-drinker.
Q1. What is your diagnosis?
A1. The answer to what is your diagnosis?
(a) Infantile haemangioma (superficial) is one of the most common benign tumours of infancy. It is a vascular neoplasm which can affect the face and other parts of the body and is characterized by an early and rapid vascular proliferation followed by spontaneous involution.
(b) Klippel-Trenaunay-Weber syndrome, or angio-osteo-hypertrophy, is characterized by port-wine stains of extremities, unilateral varicose veins, hypertrophic limbs and kidney or adrenal tumours.
(c) Beckwith-Wiedemann syndrome (BW) presents with facial port-wine lesions, macroglossia, omphalocele and visceral hyperplasia. Hyperplasia of the pancreatic islet cells causes excessive production of insulin that results in characteristic hypoglycaemic episodes.
(d) Rubinstein-Taybi syndrome (RT) includes a capillary naevus of the forehead, short status but big toes and broad thumbs and learning disability.
(e) Sturge-Weber syndrome (SW) or Sturge-Weber-Dimitris syndrome) is our case. It is a rare congenital neurocutaneous disorder characterized by port-wine stains of the face; early glaucoma and ipsilateral leptomeningeal angioma. The deep purple colour and distribution of the mark seen in our patient was in accordance with that of the Sturge-Weber syndrome. Glaucoma has been detected in both eyes. The patient has suffered from chronic headaches, which are often reported in patients with SW syndrome and therefore has been referred for skull radiography and MRI and finally to the neurologist for further evaluation.
Q2. Which diagnostic tests are mandatory for the diagnosis of the Sturge-Weber syndrome?
A2. The answer to which diagnostic tests are mandatory for the diagnosis
(a) Cerebrospinal fluid analysis shows increased protein content caused by microhaemorrhages, which is common in this syndrome.
(b) Skull radiography often shows abnormal pathognomonic calcifications, known as ‘tram-track’ lesions. These are double-lined calcifications parallel with the cerebral convolutions and appear at a late stage in this syndrome, but may also be seen in tuberous sclerosis and in childhood leukaemia.
(c) CT scan/MRI can demonstrate brain atrophy, abnormal draining veins and ipsilateral choroid plexus enlargement from the initial stage of this syndrome. CT scan is superior to MRI for the detection of calcifications (tram-track), while MRI is preferable for detecting vascular brain malformations.
(d) Electromyography can be used rarely for study of ipsilateral muscle paralysis seen in some of the patients with Sturge-Weber syndrome. In contrast, electroencephalography is important as it can be widely used for evaluation of seizures that may occur in children with this syndrome.
(e) Vision tests are important for estimation of the risk and the severity of glaucoma, an early side-effect of this syndrome. Among the plethora of tests, tonometry (measure of the inner eye pressure) and study of the optic nerve with ophthalmoscopy are very useful.