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Neurocutaneous syndrome

Neurocutaneous syndrome (Ref. Hari. 18th ed., Pg- 3389)


Neurofibromatosis (NF) or Von Recklinghausen disease is a neurocutaneous disorder with 'autosomal dominant' inheritance. There are two distinct forms of NF.

Neurofibromatosis – I

Neurofibromatosis – II (Chromosome 22)

Most prevalent type (90%)



  1. Cafe-au-Iait macules
  2. Axillary or inguinal freckling
  3. iris Lisch nodules
  4. Neurofibromas
  5. A distinctive osseous lesion such as sphenoid dysplasia or cortical thinning of long bone, with or without pseudoarthrosis.
  6. Optic gliomas.

Accounts for 10% of cases of NF



  1. Bilateral acoustic neuromas are the most distinctive tumors in patients with NF-2).
  2. Meningioma
  3. Glioma
  4. Juvenile posterior subcapsular opacity

Summary of Types of neurofibromatosis


Type I

Peripheral form

Multiple cutaneous neurofibromas, soft papillomas, café-au-lait patches,
axillary freckling, iris fibromas, plexiform neurofibromas, spinal neurofibromas, aqueduct stenosis, scoliosis, endocrine tumours.

Type II

Central form

Few or no cutaneous lesion, bilateral acoustic neuromas, cerebral and otic
nerve gliomas, meningiomas, spinal neurofibromas.

Neoplasms associated with NF-I include:

CNS neoplasms

Other tumors with higher incidence than general population

1. Optic nerve glioma (commonest)

2. Meningiomas

3. Neurofibromas

4. Schwannomas

5. Astrocytomas

6. Neurolemmomas

1. Pheochromocytomas

2. Rhabdomyosarcomas

3. Leukemia

4. Wilms’

5. Juvenile Xanthogranulomas

Von Hippel-Lindau Syndrome


Von Hippel Lindau Syndrome


Autosomal dominant syndrome


Characteristic Tumors/Cysts


Hemangioblastomas (M/C site cerebellum)

  1. Cerebellar hemangioblastoma      
  2. Retinal hemangioblastoma   
  3. Spinal hemangioblastoma     

Other tumors / Cysts

  1. Renal cell carcinoma / hypernephroma                         
  2. Pheochromocytoma
  3. Pancreatic endocrine tumors                                 
  4. Adrenal carcinomas
  5. Benign cysts in Kidney, epididymis, Liver or pancreas

Extra Edge: Polycythemia is a characteristic associated feature in VHL due to erythropoietin production by cerebellar hemangioblastoma and/or Renal cell carcinoma.

Tuberous sclerosis


It is genetically determined autosomal dominant (LQ 2012), neuro-cutaneous syndrome characterized by:

  1. Skin (Cutaneous) Involvement
    1. Adenoma sebacium: facial angiofibroma.          
    2. Ash-leaf shaped hypopigmented macules
    3. Shagreen patches (LQ 2012): yellowish thickening of skin over Lumbosacral region of back.
    4. Depigmented Nevi  
  2. Neurological Features
    1. Epilepsy, Seizures          
    2. Mental retardation            
    3. Hydrocephalus
    4. Subependymal nodules with calcification on neuroimaging is characteristic.        
  3. Benign Neoplasms
    1. Rhabdomyoma of myocardium
    2. Angiomyoma of kidney/liver/pancreas/adrenals.
    3. Ependymomas and Childhood Subependymal giant cell Astrocytoma.

Characteristic Triad of Tuberous Sclerosis

  1. Epilepsy / Seizures               
  2. Mental Retardation / Subnormal Intelligence        
  3. Adenoma Sebacium

Sturge Weber Syndrome


Sturge Weber Syndrome

  1. Port wine nevus over the trigeminal distribution           
  2. Ipsilateral leptomeningeal angiomatosis
  3. Contralateral hemiparesis                            
  4. Seizures
  5. Mental Retardation                                      
  6. Congenital Glaucoma

Extra Edge:

  1. Sturge Weber syndrome may be associated with leptomeningeal angiomatosis.
  2. It is not associated with an increased risk of developing true brain tumors.
  3. Rail tract appearance on CT scan is a feature.
  4. Empty sella is not a feature.

Table: Clinical features of vitamin deficiency


Vitamin deficiency  
B12 1.   Confusion / dementia
2.   Subacute combined degeneration of the cord
3.   Peripheral neuropathy
4.   Optic atrophy
5.   Megaloblastic anaema
6.   Glossitis
Folic acid 1.   Dementia
2.   Myelopathy
3.   Peripheral neuropathy
4.   Megaloblastic anemia
Thiamine 1.   Beriberi
2.   Polyneuropathy
3.   Korsakoff’s psychosis
4.   Memory impairment, Confabulation
5.   Wernicke’s encephalopathy
6.   Confusion / nystagmus
7.   Ophthalmoplegia
8.   Cardiomyopathy
9.   Hypothermia
Vitamin E 1.   Spinocerebellar & Postcolumn dysfunction
2.   Peripheral neuropathy
a.  Areflexia
b.  Ataxic gait
c.  Loss of vibration & position sense
3.   Ophthalmoplegia               
4.   Skeletal myopathy
5.   Pigmented retinopathy
6.   Haemolytic anaemia with acanthocytosis and thrombocytosis
Nicotinic acid 1.   Mania / dementia
2.   Diplopia / dysarthria
3.   Ataxia
4.   Diarrhea
5.   Cutaneous lesion
6.   Glossitis
Pyridoxine 1.   Peripheral neuropathy

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