Saturday, February 20, 2010

Neurocutaneous syndromes- always a big worry.

Neurofibromatosis (mostly familial)

T1: requires 2 of following for the dx
1)6 or more Café-au-lait spots (>5mm in pre, >15mm in post puberty
2)Axillary/inguinal freckling
3)2 or more Lish nodules (may need Slit lamp)
4)2 or more Neurofibroma ( 1 plexiform neurofibroma)
5)A distinctive osseous lesion (phenoid dysplasia, or cortical thinning of long bones)
6)Optic gliomas
7)A first-degree relative with NF-1
Assoc: Scoliosis, kyphosis, pseudoarthrosis, Gliomas, Mental retardation, seizures, neurofibrosarcoma, hypertension

T2: 10% of all NF,diagnosis needs 1 of…

1)Bilateral acoustic neuromas
2)First deg relative with NF-2 and either unilateral acoustic neuroma or any two of the following: neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacities.
Assoc: CNS tumours

Tuberous Sclerosis (Autosomal Dominant)

1)infantile spasms (hypsarrhythmic EEG pattern)
2)Ash leaf spots/ Amelanotic Navi (Wood ultraviolet lamp)
3)Adenoma sebacium (rare b4 2yr)
4)Shagreen paches
5)Subungual or gingival fibroma
6)Café-au-lait spots
7)retinal pharcoma
Assoc: Mental Retradation, developmental delay, palpable kidney (PCKD), epilepsy, cardiac rhabdomyomata, calcified tubers in the periventricular area (CT)

Mc_Cune Albright Syndrome (non familial)

Aka Polyostotic fibrous dysplasia. Features are…
1)Precauceous puberty (3-4yr, f>m)
2)Café-au-lait spots
3)Fractures/skeletal asymmetry
4)Assoc: Multiple endocrinopathy ( adrenal hyperplasia, thyroid, parathyroid and Growth Hormone abnormalities)

Sturge-Weber Syndrome (sporadic)

Features are…
1)Port wine stain at maxillary/ophthalmic division of trigeminal nerve
2)Ipsilateral: Oxophthamos, colobomata, glaucoma, buphthalmos.
3)Contralateral hemiparesis
4)Homonymous hemianopia
5)Taleniectasia of conjunctiva
6)Dark red fundus (retinal detachment)
Assoc: Epilepsy, mental retardation, cranial calcification (CT)

Von Hippel-Lindau Disease (Autosomal Dominant)

Features include:
1)Cerebellar hemangioblastomas (increase ICP)
2)Retinal angiomata (vision is unaffected until retinal detachment occurs)
3)Hemangioblastoma of the spinal cord (abnormalities of proprioception and disturbances of gait and bladder dysfunction)
4)CT scan typically shows a cystic cerebellar lesion.
5)Cystic lesions of the kidneys, pancreas, liver, and epididymis as well as pheochromocytoma, ranal carcinoma.