9. Pediatric Neurology Flashcards
A 3 year-old girl presents with mental retardation and obesity. Her mother says that she eats everything she can. In taking her history, you find she was hypotonic as an infant. You suspect…
Prader-Willi syndrome
- Deletion in paternal region of chromosome 15
A 2 year-old girl with severe mental retardation is nonetheless deemed the happiest child in her daycare. She constantly laughts and smiles to herself. She likely has…
Angelman syndrome
- Deletion in maternal region of chromosome 15
- Signs and symptoms
- Intellectual and developmental delay
- Sleep disturbance
- Seizures
- Jerky movements (hand-flapping)
- Frequent laughter and smiling (happy demeanor)
Which one of the following diseases is caused by a trinucleotide repeat?
Fragile-X syndrome
- Most commonly known single-gene cause of autism
- Most common inherited cause of intellectual disability
A 12 year-old boy is noted to have retinal angiomas on an eye exam. Eventually, similar lesions are found in his kidneys and pancreas.
- What is his diagnosis?
- He is an risk for developing what in his brain?
- Von Hippau-Lindau syndrome
- Hemangioblastoma
Von Hippau-Lindau syndrome
- Autosomal dominant
- Signs and symptoms
- Multiple hemangioblastomas of the eye and brain
- Neurological symptoms are minimal unless there is rupture of the CNS hemangioblastoma
A 12 year-old boy is noted to have facial lesions that a dermatologist diagnoses as adenoma sebaceum.
- What is his likely diagnosis?
- What finding might this patient have on brain imaging?
- Tuberous sclerosis complex (TSC)
- Cortical tubers
Tuberous sclerosis complex
- Genetics
- 2/3 of cases are de novo mutations
- 1/3 are inherited autosomal dominant
- Mutation of one of 2 genes:
- TSC1 on Ch9 - encodes protein hemartin
- TSC2 on Ch16 - encodes protein tuberin
- Signs and symptoms
- Characterized by mental retardation, seizures, adenoma sebaceum
- Affects kidneys, heart, eyes, lungs
- Ash-leaf spot = hypopigmentation
- Shagreen’s patch = raised area of hardened skin
- Characterized by mental retardation, seizures, adenoma sebaceum
- Imaging
-
4 characteristic features on MRI:
- Cortical tubers
- Subependymal nodules (“candlewax”)
- Ventriculomegaly
-
Subependymal giant cell astrocytomas (SEGAs)
- Benign tumors that may obstruct ventricular system which would need to be removed
-
4 characteristic features on MRI:
A patient says that she cannot hear out of either ear. On exam, she has a sensorineural hearing loss bilaterally. You order an MRI and see that she is has bilateral vestibular schwannomas. She suffers from which neurocutaneous syndrome…
Neurofibromatosis type II (NF2)
- Mutation on ch22
- Signs and symptoms
- Present by age 20
-
Multiple schwannomas, meningiomas, ependymomas
- Usually cause cranial nerve deficits
Neurofibromatosis type I (NF1)
- More common than NF2
- Mutation on ch17
- Signs and symptoms
- Presents by age 5
- Seizures, mental retardation, painful neuropathies from peripheral neurofibromas
- Cafe-au-lait spots, plexiform neurofibromas, axillary freckling, optic gliomas, thinning of long bones
Phakomatosis = neurocutaneous syndromes
- Neurofibromatosis type I and II
- Tuberous sclerosis
- Von Hippau-Lindau syndrome
- Sturge-Weber syndrome
A mentally retarded child develops frequent seizures. You take one look at him and diagnose…
Sturge-Weber syndrome
- Congenital disorder characterized by:
- Seizures
-
Port-wine stain birthmark
- Caused by overgrowth of capillaries
- Usually in V1 distribution
-
Neuronal loss and calcification in cerebral cortex ipsilateral to birthmark
- “Tram-track pattern”
- Seizures can be severe enough to warrant hemispherectomy
A 10 year-old girl presents with seizures and confusion after a respiratory infection diagnosed as mycoplasma pneumonia. Her MRI is below. You suspect…
Acute disseminated encephalomyelitis (ADEM)
- An acute inflammatory disease that often follows an infection
- presents with encephalopathy and seizures
A 2 year-old girl seemed healthy until she was 11 months old. Her mother saw that she seemed floppy at that time. She continued to develop normally, but began to lose those skills around age 2. This particularly involved her hands. She has…
Rett’s syndrome
- Only in girls
- Signs and symptoms
- In early infancy, hypotonia, difficulty feeding, jerkiness in limbs
- Grow up normally and then cognitive and physical deficit begins at age 1-4
- Lose purposeful use of their hands and ability to speak
- Compulsive wringing and washing of hands
- Diminished eye contact
- Problems crawling and walking
Lesch-Nyhan disease is an X-linked disorder caused by a mutation of the hypoxanthine-guanine phosphoribosyl transferase enzyme. Affected children develop hypotonia and mental retardation. The most striking feature is significant self-mutilation. Children sometimes chew their own fingers off. This can be diagnosed by elevated serum…
Uric acid
- Patients also prone to gout and kidney stones
After a difficulty delivery demonstrated by the picture below, the newborn baby’s right arm is found to be flaccid and medially rotated.
- What is this called?
- Which nerve roots of the brachial plexus has been damaged?
- Erb’s palsy
- C5-C6
Erb’s palsy
- Damage to upper brachial plexus (C5-C6)
- C5-C6 roots innervate extensors
- “Waiter’s tip”
- C5-C6 roots innervate extensors
- In newborns, flaccidity and medial rotation of the arm
- Atrophy of biceps and brachioradialis muscles
After a difficulty delivery demonstrated by the picture below, the newborn baby’s right hand seems to form a little claw.
- What is this called?
- Which nerve roots of the brachial plexus has been damaged?
- Klumpke’s paralysis
- C8-T1
Klumpke’s paralysis
- Damage to lower brachial plexus (C8-T1)
- C8-T1 roots innervate intrinsic muscles of hands and flexors of wrist/fingers
- “Ape-hand”
- C8-T1 roots innervate intrinsic muscles of hands and flexors of wrist/fingers
A 16 year-old male is referred to you by his parents for abnormal behavior. They say he sleeps 18 hours per day and when he is awake his whole demeanor is changed, often appearing “spacey” or childlike. At times, he is ravenously hungry and hypersexual. This has been going on for two weeks. They suspect he is abusing drugs, but you suspect…
Kleine-Levin syndrome
