Congenital neurological disorders: Pathology review
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Congenital neurological 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
Congenital neurological disorders: Pathology review
USMLE® Step 1 questions
0 / 9 complete
Questions
USMLE® Step 1 style questions USMLE
of complete
Retrieved from: Wikipedia
Which of the following is the most likely diagnosis?
Transcript
Content Reviewers
At the physician’s office, a 30 year old male named Alex came in because of headaches and dizziness for the past few months. He also often stumbles while walking and recently fell down the stairs. His past medical history is insignificant. MRI of the brain and spinal cord shows herniation of the cerebellar tonsils.
Next to Alex, there’s a mother with her 4 years old child named Evi who had recurrent urinary tract infections. Evi was born with leg paralysis and leg deformities. Clinical examination reveals a mass on her lower back.
All right, both of them have a congenital neurological malformation, which occurs when there’s a primary defect in the developmental process of the nervous system. These conditions appear as the baby develops in utero and can vary in severity and presentation, ultimately impacting the infant's health, development, and survival. The most high yield neurological malformations are neural tube defects, posterior fossa malformations, syringomyelia, and holoprosencephaly.
Okay, let’s take a closer look at these disorders, starting with neural tube defects, or NTDs, which include spina bifida and anencephaly. They’re relatively common anomalies that develop when a portion of the neural tube - the precursor of the central nervous system- fails to close as it should during the fourth week of gestation. When the posterior neuropore doesn’t close well, the baby is born with spina bifida, which is Latin for “split spine”. But when the anterior neuropore doesn’t close properly, the forebrain fails to develop, and the baby is born with anencephaly or absence of a major portion of the brain and the skull. In spina bifida, there’s incomplete closure of the vertebrae and membranes of the spinal cord.
Sources
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Neurology in clinical practice" Butterworth-Heinemann Medical (2004)
- "Dandy–Walker syndrome and chromosomal abnormalities" Congenital Anomalies (2007)
- "Spina bifida" The Lancet (2004)
- "Chiari-malformasjon type 1 – diagnostikk og behandling" Tidsskrift for Den norske legeforening (2019)
- "Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia" Nature Reviews Nephrology (2019)
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