Hurry up!
: : Get The Offer
Unlimited Access Step ( one, two and three ).
Priority Access To New Features.
Free Lifetime Updates Facility.
Dedicated Support.
1
Question:

A 3-year-old girl is brought to the emergency department due to a first-time seizure.  The patient was watching television 30 minutes earlier when her left arm began to twitch, which progressed to twitching in all 4 extremities and loss of consciousness that lasted a minute.  Medical history is notable for receptive and expressive language delays.  Vital signs are normal.  Examination shows a sleepy but arousable toddler lying on the bed.  An erythematous patch is present on the right forehead and upper eyelid, which her parents say has been present since birth.  There is a 5-cm, hyperpigmented macule with an irregular border on the abdomen.  Skin examination is otherwise normal.  Visual field examination reveals a left homonymous hemianopia.  Neurologic examination is otherwise unremarkable.  Which of the following is the most likely diagnosis in this patient?

Hurry up!
: : Get The Offer
Unlimited Access Step ( one, two and three ).
Priority Access To New Features.
Free Lifetime Updates Facility.
Dedicated Support.


Explanation:

There are many explanatory sources, such as pictures, videos, and audio clips to explain these explanations and questions and explain the answers, but you must subscribe first so that you can enjoy all these advantages. We have many subscription plans at the lowest prices. Don't miss today's offer. Subscribe

Sturge-Weber syndrome

Pathophysiology

  • Mutation in GNAQ gene

Clinical features

  • Port-wine stain (trigeminal nerve [CN V1/V2] distribution)
  • Leptomeningeal capillary-venous malformation
  • Seizures ± hemiparesis
  • Intellectual disability
  • Visual field defects
  • Glaucoma

Diagnosis

  • MRI of the brain with contrast

Management

  • Laser therapy
  • Antiepileptic drugs
  • Intraocular pressure reduction

This patient has new-onset seizure and facial port-wine stain, findings concerning for Sturge-Weber syndrome (SWS).  SWS is a neurocutaneous disorder characterized by a capillary malformation (nevus flammeus, or port-wine stain) in the distribution of the first or second branches of the trigeminal nerve and an associated leptomeningeal capillary-venous malformation affecting the brain and eye.

  • Neurologic effects include intellectual disability, which may present as developmental delays in infancy, and seizures, which usually begin in early childhood.  Seizures often originate focally with subsequent generalization, as seen in this patient.
  • Glaucoma is the most common intraocular abnormality in SWS; however, a vascular malformation involving the occipital lobe or optic tract can also cause visual field defects.  This patient's left homonymous hemianopia, or vision loss in the left visual field of both eyes, results from a lesion involving the contralateral visual pathway.

MRI of the brain with contrast detects the intracranial vascular malformation and is diagnostic.  Treatment involves controlling seizures and reducing intraocular pressure.  Laser therapy may also help reduce the appearance of the port-wine stain.

(Choice A)  Infantile hemangioma is a raised, vascular lesion composed of small capillaries that presents at or shortly after birth with a bright red papule/nodule.  Hemangiomas initially proliferate in infancy before spontaneous involution occurs.  Seizures and neurologic deficits are not seen.

(Choice B)  Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder that can cause intellectual disability and seizures.  Multiple, large (>0.5 cm) café au lait macules are typical; this patient's single lesion is seen in up to one-third of the general population and does not support an NF1 diagnosis.  Moreover, additional cutaneous manifestations of NF1 include freckling and neurofibromas, not a nevus flammeus.

(Choice C)  Neurofibromatosis type 2 (NF2) is an autosomal dominant neurocutaneous disorder associated with bilateral vestibular schwannomas.  Cataract is the ophthalmic condition most commonly associated with NF2, and skin manifestations include cutaneous plaques and tumors (not port-wine stains).

(Choice E)  Tuberous sclerosis is a neurocutaneous disorder that often presents with seizures and intellectual disability.  Typical skin findings include hypopigmented ash-leaf spots, angiofibromas (malar erythematous papules), and shagreen patches (flesh-colored plaques on the back).

Educational objective:
Sturge-Weber syndrome is a neurocutaneous disorder characterized by a capillary malformation (port-wine stain) along the trigeminal nerve distribution and leptomeningeal capillary-venous malformations that affect the brain and eye.  Seizures, intellectual disability, and visual field defects can occur.