History

Fact Explanation
A nevus on the face (port-wine stain), trunk, mucosa of the mouth or pharynx [1] Due to anomalous development of the primordial vascular bed in the early stages of cerebral vascularization. [1]
Seizures [1] Due to the presence of intracranial lesion on the same side as the port-wine stain. [2]
Hemiparesis and stroke like episodes [1] Due to thrombosis of cortical veins in the affected region. [1]
Mental retardation or severe learning disabilities in later childhood [1] Occurs due to prolonged generalized seizures and increasing cerebral atrophy secondary to local hypoxia and use of numerous anticonvulsants. [3]
Painful, bleeding gums [1] Angiomatous enlargement due to the underlying vascular anomaly. [4]
impaired visual acuity, glaucoma [1] Due to underlying intracranial lesion involving the Cranial Nerve V. [1]
Migraine [1] Vascular in origin due to vasomotor changes in and around angioma. [1]
References
  1. HASLAM, Robert H.A. Neurocutaneous Syndromes. In: KLIGEMAN, Robert M, BEHRMAN, Richard E, JENSON, Hal B and STANTON, Bonita F. Nelson textbook of Paediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007.
  2. LISSAUER, Tom. CLAYDEN, Graham. Illustrated Textbook of Paediatrics. 3rd ed. London: Mosby Elsevier, 2007
  3. MANIVANNAN, N, GOKULANATHAN, S, AHATHYA R.S, GUBERNATH, DANIEL,R, SHANMUGASUNDARAM. Sturge-Weber syndrome . J Pharm Bioallied Sci (online). Aug 2012; 4(Suppl 2): S349–S352. [viewed 18 April 2014] doi: 10.4103/0975-7406.100304
  4. JAQTAP, S.A, SRINIVAS, G, RADHAKRISHNAN, A, HARSHA, K.J. A clinician's dilemma: Sturge-Weber syndrome without facial nevus (online). Ann Indian Acad Neurol. [online] 2013 Jan-Mar; 16(1): 118–120. [viewed 18 April 2014] doi: 10.4103/0972-2327.107725

Examination

Fact Explanation
Facial nevus [1] This is present at birth, tends to be unilateral, and always involves the upper face and eyelid. The nevus may also be evident over the lower face, trunk, and in the mucosa of the mouth and pharynx and due to anomalous development of the primordial vascular bed in the early stages of cerebral vascularization. At this stage, the blood supply to the brain, meninges, and face is undergoing reorganization, while the primitive ectoderm in the region differentiates into the skin of the upper face and the occipital lobe of the cerebrum. [1]
Hemiparesis [1] Due to thrombosis of cortical veins in the affected region [1]
Visual defects [1] Due to thrombosis of cortical veins in the affected region [1]
Facial asymmetry and macrochelia [2] Angiomatous enlargement due to the underlying vascular anomaly [2]
Gingival enlargement which blanches on pressure [2] Angiomatous enlargement due to the underlying vascular anomaly [2]
References
  1. HASLAM, Robert H.A. Neurocutaneous Syndromes. In: KLIGEMAN, Robert M, BEHRMAN, Richard E, JENSON, Hal B and STANTON, Bonita F. Nelson textbook of paediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007.
  2. MANIVANNAN, N, GOKULANATHAN, S, AHATHYA R.S, GUBERNATH, DANIEL,R, SHANMUGASUNDARAM. Sturge-Weber syndrome . J Pharm Bioallied Sci (online). Aug 2012; 4(Suppl 2): S349–S352. [viewed 18 April 2014] doi: 10.4103/0975-7406.100304

Differential Diagnoses

Fact Explanation
Salmon patch of neonates (naevus simplex) Due to localized vascular ectasia and this is a transient lesion seen in 30-40% of normal newborn neonates [1]
Klippel-Trenaunay syndrome This is a cutaneous vascular malformation, which in combination with bony and soft tissue hypertrophy and venous abnormalities constitutes the triad of defects of this non heritable disorder. The anomaly is present at birth and usually involves a lower limb but may involve more than 1 and portions of the trunk or face. Enlargement of the soft tissues may be gradual and may involve the entire extremity, a portion of it, or selected digits. The vascular lesion most often is a capillary malformation, generally localized to the hypertrophied area. [1]
Cobb syndrome Due to a spinal arteriovenous malformation. [1]
References
  1. MORELLI, Joseph G. Diseases of the Neonate. In: KLIGEMAN Robert M. Nelson textbook of paediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007.

Investigations - for Diagnosis

Fact Explanation
Skull radiograph [1] it shows intracranial calcification in the occipitoparietal region in most patients. This characteristically assumes a serpentine or railroad-track appearance. [1],[2]
CT brain [1] it highlights the extent of the calcification that is usually associated with unilateral cortical atrophy and ipsilateral dilatation of the lateral ventricle. [1],[2]
MRI brain [1] For delineation of the size and location of the vascular malformation and the presence of white matter lesions. [1],[2]
Histopathology [1] to identify the vascular malformation with capillary telangectasia with extensive calcification [1],[2]
References
  1. HASLAM, Robert H.A. Neurocutaneous Syndromes. In: KLIGEMAN Robert M. Nelson textbook of paediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007.
  2. MANIVANNAN, N, GOKULANATHAN, S, AHATHYA R.S, GUBERNATH, DANIEL,R, SHANMUGASUNDARAM. Sturge-Weber syndrome . J Pharm Bioallied Sci (online). Aug 2012; 4(Suppl 2): S349–S352. [viewed 18 April 2014] doi: 10.4103/0975-7406.100304

Investigations - Followup

Fact Explanation
Intra ocular pressure by tenometer [1] Due to increased risk of glaucoma [1],[2]
EEG [1] To identify seizure activity [1],[2]
References
  1. HASLAM, Robert H.A. Neurocutaneous Syndromes. In: KLIGEMAN Robert M. Nelson textbook of paediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007.
  2. JAQTAP, S.A, SRINIVAS, G, RADHAKRISHNAN, A, HARSHA, K.J. A clinician's dilemma: Sturge-Weber syndrome without facial nevus (online). Ann Indian Acad Neurol. [online] 2013 Jan-Mar; 16(1): 118–120. [viewed 18 April 2014] doi: 10.4103/0972-2327.107725

Management - General Measures

Fact Explanation
Achieve seizure control with anticonvulsants To prevent mental retardation or severe learning disabilities due to prolonged generalized seizures and resultant cerebral hypoxia. [1]
Identification and surveillance for behavioural abnormalities For better neuro developmental outcome [1]
Special educational facilities Due to associated learning disabilities which needs special education [1]
Hemispherectomy for refractory seizures Indicated in patients in whom the seizures are not adequately controlled by pharmacotherapy. To prevent mental retardation or severe learning disabilities due to prolonged generalized seizures and resultant cerebral hypoxia. [1]
References
  1. HASLAM, Robert H.A. Neurocutaneous Syndromes. In: KLIGEMAN Robert M. Nelson textbook of paediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007.

Management - Specific Treatments

Fact Explanation
Regular measurements of intraocular pressure with a tenonometer To detect a rise in the intra ocular pressure as these patients have a high of the risk or glaucoma. [1],[2]
For cosmetic treatment of the port-wine stain: flashlamp pulsed laser therapy. Used particularly for large lesions that are located prominently on the forehead. The facial nevus is often a target for ridicule by classmates, leading to psychologic trauma, therefore for cosmetic reasons. [1], [2]
For cosmetic treatment of the port-wine stain: high dose hydrocortisone Is given orally in infancy for regression of well-localized small lesions. [1], [2]
For cosmetic treatment of the port-wine stain: dermabrasion Makes the port wine stain less prominent.
For cosmetic treatment of the port-wine stain: tattooing Is a method of cosmetic camouflage.Tattooing of the area with skin-coloured pigment hides the port wine stain. [1],[2]
The dental rehabilitation to maintain good oral hygiene Because of recurrent bleeding gums and gingival infections [2]
Gingivectomy If good dental hygiene is inadequate for plaque control and maintenance, gingivectomy should be considered in the management of gingival overgrowth. [3]
References
  1. HASLAM, Robert H.A. Neurocutaneous Syndromes. In: KLIGEMAN Robert M. Nelson textbook of paediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007.
  2. JAQTAP, S.A, SRINIVAS, G, RADHAKRISHNAN, A, HARSHA, K.J. A clinician's dilemma: Sturge-Weber syndrome without facial nevus (online). Ann Indian Acad Neurol. [online] 2013 Jan-Mar; 16(1): 118–120. [viewed 18 April 2014] doi: 10.4103/0972-2327.107725
  3. GILL Namrata C, BHASKAR Nandini. Sturge – Weber syndrome: A case report. Contemp Clin Dent. [online] 2010 Jul-Sep; 1(3): 183–185. [viewed 18 April 2014] doi: 10.4103/0976-237X.72789