Neurocutaneous disorders: Pathology review
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Neurocutaneous disorders: Pathology review
Pathology
Central and peripheral nervous system disorders
Amyotrophic lateral sclerosis
Neurofibromatosis
Sturge-Weber syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Central nervous system disorders
Brain herniation
Broca aphasia
Kluver-Bucy syndrome
Wernicke aphasia
Wernicke-Korsakoff syndrome
Acoustic neuroma (schwannoma)
Adult brain tumors
Pediatric brain tumors
Pituitary adenoma
Ischemic stroke
Transient ischemic attack
Brain abscess
Cavernous sinus thrombosis
Creutzfeldt-Jakob disease
Encephalitis
Epidural abscess
Meningitis
Neonatal meningitis
Aqueductal stenosis
Cerebral palsy
Chiari malformation
Dandy-Walker malformation
Septo-optic dysplasia
Spina bifida
Spinocerebellar ataxia (NORD)
Syringomyelia
Tethered spinal cord syndrome
Alzheimer disease
Creutzfeldt-Jakob disease
Delirium
Frontotemporal dementia
Lewy body dementia
Normal pressure hydrocephalus
Vascular dementia
Acute disseminated encephalomyelitis
Central pontine myelinolysis
JC virus (Progressive multifocal leukoencephalopathy)
Multiple sclerosis
Transverse myelitis
Cavernous sinus thrombosis
Cluster headache
Idiopathic intracranial hypertension
Migraine
Tension headache
Trigeminal neuralgia
Arteriovenous malformation
Epidural hematoma
Intracerebral hemorrhage
Saccular aneurysm
Subarachnoid hemorrhage
Subdural hematoma
Essential tremor
Huntington disease
Opsoclonus myoclonus syndrome (NORD)
Parkinson disease
Restless legs syndrome
Torticollis
Early infantile epileptic encephalopathy (NORD)
Epilepsy
Febrile seizure
Brown-Sequard Syndrome
Cauda equina syndrome
Friedreich ataxia
Neurogenic bladder
Syringomyelia
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Concussion and traumatic brain injury
Peripheral nervous system disorders
Poliovirus
Spinal muscular atrophy
Charcot-Marie-Tooth disease
Guillain-Barre syndrome
Bell palsy
Trigeminal neuralgia
Carpal tunnel syndrome
Erb-Duchenne palsy
Klumpke paralysis
Sciatica
Thoracic outlet syndrome
Ulnar claw
Winged scapula
Lambert-Eaton myasthenic syndrome
Myasthenia gravis
Nervous system pathology review
Adult brain tumors: Pathology review
Central nervous system infections: Pathology review
Cerebral vascular disease: Pathology review
Congenital neurological disorders: Pathology review
Dementia: Pathology review
Demyelinating disorders: Pathology review
Headaches: Pathology review
Movement disorders: Pathology review
Neurocutaneous disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Pediatric brain tumors: Pathology review
Seizures: Pathology review
Spinal cord disorders: Pathology review
Traumatic brain injury: Pathology review
Assessments
Neurocutaneous disorders: Pathology review
USMLE® Step 1 questions
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Questions
USMLE® Step 1 style questions USMLE
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Reproduced from: Wikimedia Commons
Histopathological analysis of this patient's lesion would most likely show which of the following?
Transcript
Content Reviewers
At the family medicine clinic, a 17 year old male named Heath came in because of lower back pain. Clinical examination reveals lots of small growths on the face, light flat patches throughout his body, and a darker raised patch on his forehead. Heath was adopted early in his life and his family history is unknown. Abdominal ultrasound reveals an angiomyolipoma of the left kidney. Next to Heath, there’s an 8 year old child named Sylvia. Sylvia complains of difficulty seeing what the teacher is writing in school. She also has a purple mark that covers the forehead and her right upper eyelid. Eye examination reveals increased intraocular pressure in the right eye. Her medical history includes an episode of seizure when she was 5 years old. A brain MRI is ordered and reveals brain atrophy. Finally, there’s a 45 year old male named Austin who came in because of a ringing sound in his ears and a gradual loss of hearing. Brain MRI reveals bilateral masses on the cerebellopontine angle.
Okay, so all of them have a neurocutaneous syndrome. Neurocutaneous syndromes primarily affect the nervous system and the skin. They include Sturge-Weber syndrome, tuberous sclerosis, neurofibromatosis type I and II, and Von Hippel-Lindau disease. For the exams remember that Sturge-Weber occurs due to sporadic mutations, while tuberous sclerosis, neurofibromatosis type I and II, and Von Hippel-Lindau disease are autosomal dominant conditions.
Alright, now let’s take a closer look at these different disorders, starting with Sturge-Weber syndrome, which is also known as encephalotrigeminal angiomatosis. During week 6 of development, as the cephalic portion of the neural tube grows, a network of tiny blood vessels called a vascular plexus develops. There’s a gene called the GNAQ gene which codes for a guanine nucleotide-binding protein that is involved in the development of that plexus. Normally, around week 9, the GNAQ gene stops getting expressed, leading to the regression of the vascular plexus. But in Sturge-Weber syndrome, a sporadic mutation occurs that let some cells keep making GNAQ proteins. The mutated cell then replicates over and over, so all of the cells that descend from it have the mutation.
Sources
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Rook's Textbook of Dermatology" Wiley-Blackwell (2004)
- "Ophthalmology" Elsevier Health Sciences (2009)
- "Practical Surgical Neuropathology" Elsevier Health Sciences (2010)
- "Adams and Victor's Principles of Neurology, Ninth Edition" McGraw Hill Professional (2009)
- "Fundamentals of Pathology" H.A. Sattar (2011)
- "von Hippel–Lindau disease: A clinical and scientific review" European Journal of Human Genetics (2011)
- "Sturge-Weber syndrome: A review" Pediatric Neurology (2004)
- "Genotype-Phenotype Correlation in von Hippel-Lindau Disease With Retinal Angiomatosis" Archives of Ophthalmology (2007)
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