Term
|
Definition
| Spinal cord that lies uncovered by skin or bone on the infant's back. Results in total paralysis and loss of sensation in the legs and incontinence of bowel and bladder |
|
|
Term
|
Definition
| The spinal canal and cystic meninges are exposed on the back but the underlying spinal cord is anatomically and functionally intact |
|
|
Term
|
Definition
| The skin of the back is apparently intact, but defects of the underlying bone or spinal canal are present. |
|
|
Term
|
Definition
| Defective closure of the caudal neural tube at the end of week 4 of gestation results in anomalies of the lumbar and sacral vertebrae or spinal cord |
|
|
Term
|
Definition
| A head circumference above the 97th percentile |
|
|
Term
|
Definition
| increased skull thickness |
|
|
Term
|
Definition
| enlargement of the ventricles |
|
|
Term
|
Definition
|
|
Term
|
Definition
| premature closure of one or more skull sutures |
|
|
Term
|
Definition
| An autosomal recessive disorder that produces severe hypoplasia of the frontal regions of the brain and skull |
|
|
Term
|
Definition
| Failure of the primary cerebral vesicle to divide and expand laterally and often is associated with midline facial defects (hypotelorism, cleft lip, and cleft palate). |
|
|
Term
| The most common form of familial mental retardation? |
|
Definition
|
|
Term
| Name this disorder: Caused by the loss of the maternal allele (of the long arm of chromosome 15) and is manifested by severe mental retardation, intractable seizures, tremulousness, a characteristic facies, and a happy external demeanor? |
|
Definition
|
|
Term
| Name this Disorder: Caused by the loss of the paternal allele (of the long arm of chromosome 15) and is manifested by severe hypotonia and feeding difficulties in the neonatal period, cryptorchidism, small hands and feet, mild mental retardation, and almond-shaped eyes. |
|
Definition
|
|
Term
| The difference in phenotype, depending on loss of the maternal or paternal allele is called _____? |
|
Definition
|
|
Term
|
Definition
| means "mother spots" or "birthmarks" and refers to tuberous sclerosis and neurofibromatosis |
|
|
Term
| Neurofibromatosis type 1 (NF1) is also known as ______? |
|
Definition
| von Recklinghausen disease |
|
|
Term
| café au lait spots, axillary freckling, cutaneous neurofibromas, and iris hamartomas (Lisch nodules) are the cardinal features of ________? |
|
Definition
|
|
Term
| An autosomal dominant disorder, characterized by hamartomas in many organs, especially the brain, eye, skin, kidneys, and heart? |
|
Definition
|
|
Term
| Name this disorder: The classic clinical features are facial angiofibromas (formerly referred to as adenoma sebaceum), mental retardation, and severe epilepsy? |
|
Definition
|
|
Term
| Name this disorder: characterized by angiomas of the leptomeninges overlying the cerebral cortex in association with an ipsilateral facial port-wine nevus that, at the least, covers part of the forehead and upper eyelid? |
|
Definition
|
|
Term
| Meningomyelocele in the fetus is suggested by an elevated? |
|
Definition
|
|
Term
| spina bifida malformation can be prevented in many cases by _____ administration to the pregnant mother? |
|
Definition
|
|
Term
|
Definition
| A condition in which the brain presumably develops normally, but then is destroyed by an intrauterine, probably vascular, insult. |
|
|
Term
|
Definition
| characterized by symmetric bilateral clefts within the cerebral hemispheres that extend from the cortical surface to the ventricular cavity |
|
|
Term
|
Definition
| Indicates smooth brain with absence of sulcation |
|
|
Term
|
Definition
| the gyri are few in number and too broad |
|
|
Term
|
Definition
| the gyri are too many and too small |
|
|
Term
| Name this malformation: diagnosed on the basis of the classic triad: complete or partial agenesis of the vermis, cystic dilation of the fourth ventricle, and enlarged posterior fossa? |
|
Definition
| Dandy-Walker malformation |
|
|
Term
| Degenerative diseases that affect gray matter are called _____? |
|
Definition
| Neuronal Degenerative Disorders; Examples: Mucopolysaccharidoses = types I H (Hurler syndrome), II (Hunter syndrome), III (Sanfilippo syndrome), Niemann-Pick disease, Tay-Sachs disease, Rett syndrome, & Mitochondrial diseases |
|
|
Term
| Degenerative diseases that affect the white matter are called _______? |
|
Definition
| Leukodystrophies; Ex: Metachromatic leukodystrophy, Krabbe disease, & Adrenoleukodystrophy |
|
|
Term
| Gray matter degeneration (neuronal degeneration) is characterized early by ____ & _____? |
|
Definition
|
|
Term
| Name this Disease: Sphingomyelin accumulating in foam cells of the reticuloendothelial system of the liver, spleen, lungs, and bone marrow. It also distends neurons of the brain. |
|
Definition
| Niemann-Pick disease (Gray Matter Degenerative Diseases) |
|
|
Term
| Name this disease: occurs commonly in Jewish children of eastern European background. Accumulation of GM2 ganglioside in cerebral gray matter and cerebellum. Infants are normal until 6 months of age, when they develop listlessness, irritability, hyperacusis, intellectual retardation, and a retinal cherry-red spot. |
|
Definition
|
|
Term
| Name this Disease: common neurodegenerative disorder affecting only females with onset at about 1 year of age. It is characterized by the loss of purposeful hand movements and communication skills; social withdrawal; gait apraxia; stereotypic repetitive hand movements that resemble washing, wringing, or clapping of the hands; and acquired microcephaly. |
|
Definition
|
|
Term
| Name this Disease: Infants appear normal until late in the first year of life, when they exhibit psychomotor retardation, choreoathetosis, spasticity, and severe self-mutilation. |
|
Definition
| Lesch-Nyhan syndrome (causes excess uric acid) |
|
|
Term
| Name this disease: A treatable, degenerative condition that exhibits signs of cerebellar and basal ganglia dysfunction. It is an autosomal recessive inborn error of copper metabolism |
|
Definition
|
|
Term
| Name this disease: degenerative inherited CNS disease primarily involving the periaqueductal region of the brainstem, caudate, and putamen. Symptoms usually begin before 2 years of age and consist of hypotonia, feeding difficulties, respiratory irregularity, weakness of extraocular movements, and ataxia. |
|
Definition
| Subacute necrotizing encephalomyelopathy, or Leigh disease |
|
|
Term
| a state of unresponsive unconsciousness is called _____? |
|
Definition
|
|
Term
| arousal is mediated by the ____? |
|
Definition
| RAS (reticular activating system) |
|
|
Term
| In ________ respiration, a period of hyperventilation with a crescendo-decrescendo pattern alternates with a shorter period of apnea |
|
Definition
| Cheyne-Stokes respiration |
|
|
Term
| A diverse group of clinical entities associated with abnormal excessive, exaggerated, chaotic, or explosive movements of voluntary muscles? |
|
Definition
|
|
Term
| a hyperkinetic, rapid, unsustained, irregular, purposeless, nonpatterned movement? |
|
Definition
|
|
Term
| a hyperkinetic, slow, coarse, writhing movement that is more pronounced in distal muscles? |
|
Definition
|
|
Term
| a hyperkinetic, brief flexion contraction of a muscle group, resulting in a sudden jerk? |
|
Definition
|
|
Term
| a hyperkinetic, rhythmic, oscillatory movement caused by simultaneous contractions of antagonistic muscles? |
|
Definition
|
|
Term
| rapid, purposeless, involuntary, stereotyped movements and typically involve the face, eyes, shoulder, and arm? |
|
Definition
|
|
Term
| An acute postinfectious demyelinating disorder of the spinal cord, treated with high-dose steroids? |
|
Definition
|
|
Term
| Name this disease: Infants who are affected at birth or who become weak within the first several months of life usually progress to flaccid quadriplegia with bulbar palsy, respiratory failure, and death within the first year of life (Hint: think SMA) |
|
Definition
| Werdnig-Hoffmann disease; A mild form of the illness = Kugelberg-Welander syndrome |
|
|
Term
| Name this disease: an acute enteroviral illness with prodromal vomiting and diarrhea associated with an aseptic meningitis picture during which the patient experiences the evolution of an asymmetric flaccid weakness as groups of anterior horn cells become infected? |
|
Definition
|
|
Term
| A postinfectious autoimmune peripheral neuropathy that often occurs after a respiratory or gastrointestinal infection? |
|
Definition
|
|
Term
| Infection with Campylobacter jejuni is associated with a severe form of this illness? |
|
Definition
|
|
Term
| Name this disease: A genetic polyneuropathy characterized by weakness and wasting of distal limb muscles. Complaints begin in the preschool years with pes cavus deformity of feet and weakness of the ankles with frequent tripping? |
|
Definition
| HMSN, commonly called Charcot-Marie-Tooth disease |
|
|
Term
| Name this disease: May begin in the teenage years with the onset of ptosis, diplopia, ophthalmoplegia, and weakness of extremities, neck, face, and jaw. Fluctuating and generally minimal symptoms are present on awakening in the morning and gradually worsen as the day progresses or with exercise? |
|
Definition
|
|
Term
| Name this disease: At about 2 to 3 years of age, boys develop an awkward gait and an inability to run properly. Examination shows firm calf hypertrophy and mild to moderate proximal leg weakness exhibited by a hyperlordotic, waddling gait and inability to arise from the ground easily? |
|
Definition
| Duchenne Dystrophy; A milder form of the disease is called Becker muscular dystrophy (starts later and progresses more slowly) |
|
|
Term
|
Definition
| A child arises from a lying position on the floor by using his arms to "climb up" his legs and body |
|
|
Term
| A disorder of muscle relaxation. Patients grasp onto an object and have difficulty releasing their grasp, "peeling" their fingers away slowly |
|
Definition
|
|
Term
| Name this disease: The clinical features include progressive proximal muscle weakness coupled with dermatologic features, including erythematous rash around the eyes (heliotrope) and plaques on the knuckles (Gottron rash) and on the extensor surfaces of the knees, elbows, and toes. |
|
Definition
|
|
Term
| The most useful neurodiagnostic test in distinguishing seizure from nonepileptic paroxysmal disorders? |
|
Definition
|
|
Term
| recurrent, unprovoked seizures is called _____? |
|
Definition
|
|
Term
| Usually begins between ages 5 and 10 years. They are usually focal motor seizures involving the face and arm and tend to occur only during sleep or on awakening in more than half of patients. Symptoms commonly include abnormal movement or sensation around the face and mouth with drooling and a rhythmic guttural sound. |
|
Definition
| Benign focal epilepsy, also known as rolandic epilepsy |
|
|
Term
| Are brief contractions of the neck, trunk, and arm muscles, followed by a phase of sustained muscle contraction lasting 2 to 10 seconds. Spasms occur most frequently when the child is awakening from or going to sleep? |
|
Definition
| Infantile spasms (West syndrome) |
|
|
Term
| defined as ongoing seizure activity for greater than 20 minutes or repetitive seizures without return of consciousness for greater than 30 minutes? |
|
Definition
|
|
Term
| present at birth, ______ assess the functional integrity of the brainstem and basal ganglia? |
|
Definition
|
|
Term
| defined as a liveliness with which an arm or leg springs back to its original position after passive stretching and release? |
|
Definition
|
|
Term
| Lack of coordination of movement is: |
|
Definition
|
|
Term
| A 24 month old infant has a (+) Babinski response on her left foot. What does this indicate? |
|
Definition
| The Babinski response is a sign of corticospinal tract dysfunction. The plantar response is consistently flexor (toes down) after 18 months of age. This reflex is unreliable in the neonates (<18mo old) except when asymmetric because the "normal" response at this age varies. |
|
|
Term
| To identify by touch an object placed in the hand is called? |
|
Definition
|
|
Term
| To identify by touch a number written in the hand is called? |
|
Definition
|
|
Term
| When do most of the CNS reflexes of infancy appear and disappear? |
|
Definition
| Most appear at birth & disappear at 4-6 months. |
|
|
Term
| When do the parachute and landau reflexes appear and disappear? |
|
Definition
| Both appear at 6-8 months. Parachute never disappears. Landau disappears at 15-24 months. |
|
|
Term
| Which reflex is this: Tactile stimulus about the mouth results in the infant's mouth pursuing the stimulus? |
|
Definition
|
|
Term
| Which reflex is this: Sudden head extension causes extension followed by flexion of the arms and legs? |
|
Definition
|
|
Term
| Which reflex is this: with the infant sitting, tilting to either side results in extension of the ipsilateral arm in a protective fashion? |
|
Definition
|
|
Term
| Which reflex is this: with the infant supine, turnign of the head results in ipsilateral extension of the arm and leg in a "fencing" posture? |
|
Definition
|
|
Term
| Overshooting or undershooting of a target is termed? |
|
Definition
|
|
Term
| _____ respirations are irregularly irregular and indicate dysfunction of the low-brainstem medulla? |
|
Definition
|
|
Term
| The normal volume of CSF is approx _____ in neonates & _____ in adults? |
|
Definition
| 50ml in neonates & 150ml in adults |
|
|
Term
|
Definition
| Acetazolamide and/or placing a shunt |
|
|
