Neurocutaneous Syndrome introduction pathogenesis treatment and management

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1. Neurocutaneous Syndrome 8 th semester June 2024 BMCTH

2. Learning objectives At the end of the lecture, the students should be able to Recognize signs of neurofibromatosis, tuberous sclerosis complex and Sturge weber syndrome Use diagnostic criteria to diagnose common neurocutaneous disorders

3. Introduction Manifestations on the skin and in the nervous system Lifelong disorders Early manifestations Pediatricians usually the first point of contact with the family of the children with neurocutaneous disorders

4. Neurofibromatosis Umbrella term for NF1 , NF2 and Schawannomatosis Genetically distinct diseases Tendency towards development of tumors of nerve sheaths Cutaneous and noncutaneous manifestations

5. Age wise presentations

6. Diagnosis Clinical Presence of at least 2 clinical signs If a parent has been diagnosed as NF1 Presence of 1 clinical criteria

7. Management No medical treatment Surveillance for potentially treatable complications Disfigurement ,airway and spinal cord compression Loss of visual acuity and constriction of visual fields Monitor hypertension Neuropsychological counselling Malignant peripheral nerve sheath tumor after the first decade

8. Tuberous sclerosis complex Multisystem genetic disorder Presents in infancy and early childhood Cutaneous and noncutaneous manifestations Noncutaneous manifestations- cardiac and neurological

9. Cutaneous manifestations

10. Noncutaneous manifestations

11. Diagnosis of TSC Clinical diagnosis Wood lamp examination MRI/CT brain Ultrasonography kidney Ophthalmological evaluation Genetic testing

12. Management Brain MRI brain every 1-3 yrs. EEG Developmental screening Kidney MRI abdomen Blood pressure monitoring GFR annually Lung PFT HRCT lung Eye Ophthalmologic examination annually Heart Echo ECG Skin Examination annually Teeth Examination 6 monthly

13. Sturge weber syndrome A male newborn is evaluated on rounds in the newborn nursery. The only finding of note on physical examination is a large dark red birthmark that covers half of the left side of his face. It is nonblanching and does not change when he cries. This physical finding is consistent with a port-wine stain. In counseling the family about port-wine stains, involvement of which of the following division(s) of the trigeminal nerve is associated with the highest risk of epilepsy and glaucoma? A. The more divisions that are involved, the higher the risk. B. V1 (upper division). C. V2 (middle division). D. V3 (lower division). E. V1 and V2 have equal risk.

14. CNS and EYES

15. A 2-year old girl is brought by her parents for a well-child visit. On skin examination, her pediatrician counts 8 café-au-lait macules on her back, trunk, arms, and legs. Her parents state that 2 of them were present at birth. There are no skinfold freckles or other skin findings, head size is normal, development is normal, and there is no known family history of neurocutaneous diseases. Which of the following is the minimum number of neurofibromatosis 1 (NF1) criteria needed to make the diagnosis of NF1? A. 2. B. 3. C. 4. D. 5. E. 6.

16. A male infant is seen in the newborn nursery. He was diagnosed with a cardiac rhabdomyoma on prenatal ultrasonography. The parents are concerned because they were told that 50% of children with this finding may have tuberous sclerosis complex. Which of the following skin findings represents the hallmark dermatologic manifestation of tuberous sclerosis that would be best seen on Wood lamp (ultraviolet light) examination? A. Angiofibromas. B. Ash-leaf spots (hypomelanotic macules). C. Fibrous forehead plaque. D. Periungual fibromas. E. Shagreen patch.

17. Von-Hippel-Lindau Disease Autosomal dominant mutation affecting a tumor suppressor gene, VHL

18. Ataxia telangiectasia

19. References Nelson textbook of Pediatrics O P Ghai Pediatrics Pediatrics in review