Neurology Exam Questions Flashcards
Which of the following anticonvulsants is most likely to decrease the half-life of lamotrigine in a clinically significant manner?
A. Carbamazepine.
B. Clonazepam.
C. Gabapentin.
D. Sodium valproate.
E. Vigabatrin.
A. Carbamazepine
Carbamazepine: Lamotrigine may enhance the adverse/toxic effect of Carbamazepine. Carbamazepine may increase the metabolism of Lamotrigine. Carbamazepine administration can decrease serum lamotrigine concentrations by approximately 40%.5 Such is likely due to carbamazepine induction of CYP isoenzymes responsible for lamotrigine metabolism.
Sodium Valproate: May enhance the adverse/toxic effect of Lamotrigine and may increase the serum concentration of Lamotrigine.
An eight-year-old boy presents to the emergency department with a three day history of double vision.
Examination reveals that the two images are most separated when looking to the right. When looking to the right with the left eye covered, the more medial image disappears.
The nerve involved is the:
A. left abducens.
B. left oculomotor.
C. left trochlear.
D. right abducens.
E. right oculomotor.
D. right abducens.
Binocular diplopia is present with both eyes open and absent when either eye is closed. Binocular diplopia reflects conditions in which the visual axes are misaligned. In general, most patients will close the eye with the dysfunctional muscle unless that is the eye with the much better vision.
The orbital muscles are innervated by cranial nerve III except for the superior oblique (cranial nerve IV) and the lateral rectus (cranial nerve VI) muscles. Any condition that results in palsy of the third, fourth, or sixth cranial nerves can cause binocular diplopia.
When the eyes fix on an image, impairment in the movement of one eye results in projection of the image upon the macular area in the normal eye and to one side of the macula in the paretic eye and thus 2 images are perceived. The image seen by the paretic eye (false image) is ALWAYS outermost. For this boy, diplopia is maximal on looking to the right, and the medial (true) image disappears when covering the left eye. This leaves only the false image. Thus, the abnormality is on abduction of the right eye, initiated by the lateral rectus muscle and innervated by the Right abducens (6th) nerve.
A: Left abducens - Lateral rectus. Patients complain of horizontal diplopia. There is esotropia (inward deviation) of the left eye, worse with gaze into the field of the weak lateral rectus muscle (i.e. to the left). Patients assume a compensatory face turn in the direction of the paralysed muscle. Abduction is commonly limited on the side of the lesion. The patient would complain of diplopia on left lateral gaze, and the medial (true) image would disappear on covering the right eye.
B: Left Occulomotor - may cause both horizontal and vertical diplopia. If complete palsy, patients have ptosis and large unreactive pupil, paralysis of adduction, upward and downward gaze. The eye rests in the position of abduction, depression and intorsion (medial rotation of upper pole). The left eye deviates laterally in the resting position due to unopposed action of the intact left lateral rectus muscle.
C: Left Trochlear - Superior Oblique. Common cause of vertical diplopia, most palsies being traumatic or idiopathic. The eyes appear conjugate in the primary position, but testing eye movements reveals defective depression of the left eye when adducted (i.e. patient looks to right and down, left eye is adducted but does not look down. More often patients complain of diplopia on looking downwards (when descending stairs or reading) and the head may tilt to the side opposite the weak superior oblique (i.e. to the right) to minimise the diplopia.
D: Right abducens - controls lateral rectus muscle of right eye, thus preventing abduction of this eye. When looking toward the field of the weak muscle (i.e. the right), diplopia is greatest. The eyes appear conjugate in the primary position. Diplopia is horizontal (true and fake image side by side) and is present only when looking to the paralysed side and maximal at the extreme of binocular lateral vision.
E: Right Occulomotor - As for answer B, but involves the right eye
A six-year-old boy presents with a six-month history of swallowing problems and speech change. His mother says that his speech is less clear and that fluids occasionally come out of his nose when he is drinking.
A photograph of his mouth is shown below.
What is the most likely diagnosis?
A. Anterior horn cell disorder.
B. Arnold-Chiari malformation.
C. Cervical cord tumour.
D. Myasthenia gravis.
E. Myotonic dystrophy.
A. Anterior Horn Cell Disorder
Anterior Horn Cell Disorders
Include Charcot-Marie-Tooth, SMA, poliomyelitis, amyotrophic lateral sclerosis (most common). Anterior Horn is the ventral grey matter of the spinal cord that contains motor neurons that affect axial muscles.
ALS
The clinical hallmark of amyotrophic lateral sclerosis (ALS) is the combination of upper motor neuron and lower motor neuron signs and symptoms. Upper motor neuron findings of weakness, hyperreflexia, and spasticity result from degeneration of frontal motor neurons. The lower motor neuron findings of weakness, atrophy or amyotrophy, and fasciculations are a direct consequence of degeneration of lower motor neurons in the brainstem and spinal cord.
The initial clinical manifestation of ALS may occur in any body segment (bulbar, cervical, thoracic or lumbosacral) and may manifest as upper motor neuron or lower motor neuron symptoms or signs. Twenty percent of patients will have onset in the bulbar segment, which most often presents with either dysarthria or dysphagia.
Loss of UMNs results in slowness of movement, incoordination and stiffness with relatively little overt weakness. Arm or hand UMN symptoms include poor dexterity with resulting difficulty performing activities of daily living. Leg UMN symptoms manifest as a spastic gait with poor balance and may include spontaneous leg flexor spasms and ankle clonus.
Dysarthria and dysphagia are the most common bulbar UMN symptoms. UMN or spastic dysarthria produces a characteristically strained vocal quality with slow speech. UMN dysphagia results from slow and discoordinated contraction of the swallowing muscles, which may lead to coughing and choking. Another frequent bulbar UMN symptom is the syndrome of the pseudobulbar affect. This is manifested as inappropriate laughing, crying, or yawning.
Loss of LMNs results in weakness, usually accompanied by atrophy and fasciculations. Cramps are also common.
Hand weakness causes difficulty manipulating small objects (buttons, zippers, coins) and using writing instruments. Proximal arm weakness results in difficulty elevating the arm to the level of the mouth or above the head. This can produce difficulty with bathing, dressing, grooming and eating. Foot and ankle weakness results in tripping, a slapping gait, and falling. Proximal leg weakness results in difficulty arising from chairs, climbing stairs and getting off of the floor. Balance may also be adversely affected.
Dysarthria and dysphagia can also result from LMN damage. Dysarthria may result from weakness of the tongue, lips or palate. The speech is usually slurred and may have a nasal quality. Hoarseness may be caused by associated vocal cord weakness. Dysphagia results from tongue weakness with disruption of the oral phase of swallowing or from pharyngeal constrictor weakness with disruption of the pharyngeal phase of swallowing or both. Tongue weakness may lead to pocketing of food between the cheeks and gums. Pharyngeal weakness often manifests as coughing and choking on food, liquids or secretions such as saliva or mucus. Aspiration may result.
SMAs are degenerative diseases of motor neurons that begin in fetal life and continue to be progressive in infancy and childhood. The progressive denervation of muscle is compensated in part by reinnervation from an adjacent motor unit, but giant motor units are thus created with subsequent atrophy of muscle fibers when the reinnervating motor neuron eventually becomes involved. Upper motor neurons remain normal.
Type 0 - severe fetal, usually fatal in early neonatal period.
Type1 - severe infantile. The cardinal features are severe hypotonia; generalized weakness; thin muscle mass; absent tendon stretch reflexes; involvement of the tongue, face, and jaw muscles; and sparing of extraocular muscles and sphincters.
Type 2 - late infantile. Affected infants are usually able to suck and swallow, and respiration is adequate in early infancy. These children show progressive weakness, but many survive into the school years or beyond, although confined to an electric wheelchair and severely handicapped. Nasal speech and problems with deglutition develop later. Scoliosis becomes a major complication in many patients with long survival.
Type 3 - juvenile. Can appear normal in infancy. The progressive weakness is proximal in distribution, particularly involving shoulder girdle muscles. Patients are ambulatory. Symptoms of bulbar muscle weakness are rare. About 25% of patients with this form of SMA have muscular hypertrophy rather than atrophy, and it may easily be confused with a muscular dystrophy. Longevity can extend well into middle adult life. Fasciculations are a specific clinical sign of denervation of muscle. In thin children, they may be seen in the deltoid, biceps brachii, and occasionally the quadriceps femoris muscles, but the continuous, involuntary, wormlike movements may be masked by a thick pad of subcutaneous fat. Fasciculations are best observed in the tongue, where almost no subcutaneous connective tissue separates the muscular layer from the epithelium.
Arnold Chiari Malformation
Chiari malformations are a heterogeneous group of disorders that are defined by anatomic anomalies of the cerebellum, brainstem, and craniocervical junction, with downward displacement of the cerebellum, either alone or together with the lower medulla, into the spinal canal.
Chiari I malformation (CM-I) is characterized by abnormally shaped cerebellar tonsils that are displaced below the level of the foramen magnum
Chiari II malformation (CM-II), also known as Arnold-Chiari malformation, is characterized by downward displacement of the cerebellar vermis and tonsils, a brainstem malformation with beaked midbrain on neuroimaging, and a spinal myelomeningocele
Chiari III malformation (CM-III) is rare and combines a small posterior fossa with a high cervical or occipital encephalocele, usually with displacement of cerebellar structures into the encephalocele, and often with inferior displacement of the brainstem into the spinal canal
Chiari IV malformation (CM-IV) is now considered to be an obsolete term that describes cerebellar hypoplasia unrelated to the other Chiari malformations
Because it is nearly always associated with a lumbosacral or thoracic myelomeningocele, CM-II is usually detected prenatally or at birth . Manifestations in infancy may include dysphagia, arm weakness, stridor, apneic spells, and aspiration. In late infancy and childhood, progressive hydrocephalus is a common problem in CM-II. In addition, CM-II may be associated with one or more of the syndromes associated with CM-I, such as syringomyelia and scoliosis.
Cervical Cord Tumour
Both benign and malignant tumors can produce a myelopathy as a result of external compression or intramedullary growth.
The most common syndrome is that of extradural spinal cord compression, as produced by metastases to the extradural space. Patients present with a progressive weakness below the level of the lesion with accompanying sensory loss and bladder dysfunction. Pain at the site of involvement is typical. Progression to paraplegia can occur abruptly, as a result of vascular compression.
Myasthenia Gravis
Two forms, occular and generalised.
In ocular myasthenia, the weakness is limited to the eyelids and extraocular muscles.
In generalized disease, the weakness commonly affects ocular muscles, but it also involves a variable combination of bulbar, limb, and respiratory muscles.
More than 50 percent of patients present with ocular symptoms of ptosis and/or diplopia. Of those who present with ocular manifestations, about half will develop generalized disease within two years. Many of the patients who present without ocular manifestations develop ptosis or diplopia at some point in the course.
About 15 percent of patients present with bulbar symptoms. These include dysarthria, dysphagia, and fatigable chewing.
Less than 5 percent present with proximal limb weakness alone.
Bulbar Muscles - Muscles of jaw closure are often involved and produce weakness with prolonged chewing (fatigable chewing). The patient frequently notes that this occurs half-way through a meal, especially when chewing something difficult like steak. When jaw weakness is present at rest, the patients often use their fingers under the jaw to keep the mouth shut.
Oropharyngeal muscle weakness produces dysarthria and dysphagia. The quality of speech sounds nasal when there is weakness of the palatal muscles, or it may be of low intensity (hypophonic). These symptoms often worsen with prolonged speech. Dysphagia may be prominent; the patient may be unable to swallow medications or consume adequate food or liquids. Imminent risk of aspiration may produce a “myasthenic crisis”. Nasal regurgitation, particularly of liquids, may occur due to palatal weakness.
Myotonic Dystrophy
Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are multisystem disorders characterized by skeletal muscle weakness and myotonia, cardiac conduction abnormalities, cataracts, testicular failure, hypogammaglobulinemia, impaired sleep and excessive daytime sleepiness, and insulin resistance.
The symptoms of this childhood form of DM1, with onset of symptoms before the age of 12, typically reflect the involvement of systems and organs other than skeletal muscle; these include cognitive deficiency, difficulty with speech (dysarthria) and hearing, poor coordination, and rarely, postoperative apnea.
Serious cardiac rhythm disturbances may occur in asymptomatic adolescents with no or only subtle signs of myotonic dystrophy. Sports and physical exercise precipitate arrhythmias in over one-half of these patients. Fewer than 10 percent of patients have clinical evidence of a cardiomyopathy and heart failure.
Up to Date and Nelsons
An otherwise normal five-year-old child is brought to see you because of recurrent generalised convulsions. The child had his first febrile convulsion at 12 months of age, and subsequently has had six afebrile seizures. He is on anticonvulsant therapy. There is no family history of febrile convulsions or epilepsy.
His mother asks about risk for sudden, unexplained [unexpected] death due to epilepsy (SUDEP).
Which of the following is the greatest risk factor for SUDEP?
A. Idiopathic epilepsy.
B. Male sex.
C. Neurological deficit.
D. Symptomatic epilepsy.
E. Young age.
C. Neurological deficit.
Risk factors for SUDEP include early age of epilepsy onset, frequent generalized tonic-clonic seizures, and intractable epilepsy. Case-control and cohort studies of SUDEP have identified certain clinical and demographic features as potential risk factors, although these are not all consistently found in all studies:
- Seizure frequency (>1/month)
- Medication noncompliance, subtherapeutic AED level
- Age 20 to 45 years
- Generalized tonic-clonic seizures
- Polytherapy
- Duration of epilepsy (>10 years)
- Alcoholism
- Male gender
- Nocturnal seizures
The diagnosis of neurofibromatosis type 1 (NF-1) is made in a seven-year-old boy. He is developmentally normal. Of the following, which complication of NF-1 is he most likely to develop during childhood or adolescence?
A. Hypertension.
B. Malignant transformation of a neurofibroma.
C. Scoliosis.
D. Seizures.
E. Sensorineural deafness.
C. Scoliosis
The typical order of appearance of clinical manifestations is café-au-lait macules, axillary and/or inguinal freckling, Lisch nodules (iris hamartomas), and neurofibromas. Osseous lesions, if present, usually appear during the patient’s first year after birth, and symptomatic optic pathway glioma (OPG) usually occurs by the time the patient is three years of age . Other tumors and neurologic complications typically begin to appear after the first year of life, and hypertension and malignant transformation of tumors may occur in adolescence and adulthood. Scoliosis is a common complication found in about 10% of the patients.
Neuroadaptation (tolerance) syndrome is the phenomenon of loss of treatment response generally after months of a clear and definite response to medication. With which of the following medications is this most likely to occur in children?
A. Carbamazepine.
B. Clonazepam.
C. Fluoxetine.
D. Methylphenidate.
E. Sodium valproate.
B. Clonazepam
Tolerance to the depressant effects of benzodiazepines is rapid, but tolerance to the anxiolytic effects develops slowly and to a limited extent.
An otherwise normal six-year-old boy is diagnosed with moderate sensorineural hearing loss. There is
no significant family history.
The most likely cause of his hearing loss is:
A. congenital cytomegalovirus.
B. congenital rubella.
C. Connexin 26 mutation.
D. Pendred syndrome.
E. Usher syndrome.
C. Connexin 26 Mutation
Connexin 26 mutation
Mutations of the connexin-26 and -30 genes have been identified in autosomal recessive (DNFB 1) and autosomal dominant (DNFA 3) SNHL and in sporadic patients with nonsyndromic SNHL; up to 50% of nonsyndromic SNHL may be related to a mutation of connexin-26.
Congenital Cytomegalovirus
The most common infectious cause of congenital SNHL is cytomegalovirus (CMV), which infects 1/100 newborns in the USA. Of these, 6,000-8,000 infants each year have clinical manifestations, including approximately 75% with SNHL. Congenital CMV warrants special attention because it is associated with hearing loss in its symptomatic and asymptomatic forms, and the hearing loss may be progressive. Some children with congenital CMV have suddenly lost residual hearing at 4-5 yr of age.
Congenital Rubella
Rubella, once the most common viral cause of congenital SNHL, is very uncommon because of effective vaccination programs.
Pendred and Usher Syndromes
Autosomal recessive genetic SNHL, both syndromic and nonsyndromic, accounts for about 80% of all childhood cases of SNHL. Usher syndrome (types 1, 2, and 3), Pendred syndrome, and the Jervell and Lange-Nielsen syndrome (one form of the long Q-T syndrome) are 3 of the most common syndromic recessive types of SNHL. Usher Syndrome also involves retinitis pigmentosa and impaired vestibular function. Pendred Syndrome involves SNHL and goitre.
A ten-year-old boy is investigated for excessive day time sleepiness. He sleeps 11 hours per night and
snores most nights. He wakes frequently at night and calls out to his mother. He describes periods of being not being able to move in bed as though he is paralysed. He
occasionally falls to the ground when laughing.
The most likely diagnosis is:
A. atonic epilepsy.
B. narcolepsy.
C. nocturnal epilepsy.
D. obstructive sleep apnoea.
E. parasomnia.
B. Narcolepsy
Narcolepsy
Narcolepsy is characterized by excessive daytime sleepiness, cataplexy (sudden loss of tone), sleep paralysis, hypnogogic hallucinations, and disturbed nighttime sleep. Loss of tone occurs in response to strong emotions, and spreads from the face downwards. Consciousness is maintained in cataplexy. A selective loss of hypocretin-secreting neurons in the hypothalamus is at the origin of this disorder. The fact that DQB1*0602 is a predisposing HLA allele identified in 85-95% of patients with narcolepsy-cataplexy suggests an autoimmune mediated neuronal loss. Diagnosis is based on the multiple sleep latency test, and therapy relies on scheduled naps, amphetamines, methylphenidate, tricyclic antidepressants, and counseling about precautions in work and driving.
Atonic Epilepsy
Atonic seizures are characterized by flaccidity or lack of movement during a convulsion. Atonic seizures, are usually longer and the loss of tone often develops more slowly. Sometimes it is difficult to distinguish among tonic, myoclonic, atonic, or astatic seizures based on the history alone when the family reports only that the patient “falls”; in such cases, the seizure may be described as a drop attack. A mechanistically similar seizure can involve the tone of only the head and neck; this seizure morphology is referred to as a head drop. Tonic, clonic, myoclonic, and atonic seizures can be focal (including one limb or one side only), focal with secondary generalization, or primary generalized.
Nocturnal Epilepsy
Benign childhood epilepsy with centrotemporal spikes (BECTS) which typically starts during childhood and is outgrown in adolescence. The child typically wakes up at night owing to a simple partial seizure causing buccal and throat tingling and tonic or clonic contractions of one side of the face, with drooling and inability to speak but with preserved consciousness and comprehension. Complex partial and secondary generalized seizures can also occur. EEG shows typical broad-based centrotemporal spikes that are markedly increased in frequency during drowsiness and sleep. MRI is normal. Patients respond very well to AEDs such as carbamazepine. In some patients who only have rare and mild seizures treatment might not be needed.
Obstructive Sleep Apnoea
A respiratory disorder that is characterized by repeated episodes of prolonged upper airway obstruction during sleep despite continued or increased respiratory effort, resulting in complete (apnea) or partial (hypopnea; ≥50% reduction in airflow) cessation of airflow at the nose and/or mouth, as well as in disrupted sleep. Both intermittent hypoxia and the multiple arousals resulting from these obstructive events likely contribute to significant metabolic, cardiovascular, and neurocognitive/neurobehavioral morbidity.
Parasomnia
Parasomnias are defined as episodic nocturnal behaviors that often involve cognitive disorientation and autonomic and skeletal muscle disturbance. Parasomnias may be further characterized as occurring primarily during NREM sleep (partial arousal parasomnias) or in association with REM sleep, including nightmares, hypnogogic hallucinations, and sleep paralysis; other common parasomnias include sleep-talking. Partial arousal parasomnias, which include sleepwalking, sleep terrors, and confusional arousals are more common in preschool and school-aged children because of the relatively higher percentage of SWS in younger children. Any factor that is associated with an increase in the relative percentage of SWS (certain medications, previous sleep deprivation) may increase the frequency of events in a predisposed child. There appears to be a genetic predisposition for both sleepwalking and night terrors. In contrast, nightmares, which are much more common than the partial arousal parasomnias but are often confused with them, are concentrated in the last third of the night, when REM sleep is most prominent. Partial arousal parasomnias may also be difficult to distinguish from nocturnal seizures.
The partial arousal parasomnias have several features in common. Because they typically occur at the transition out of “deep” or SWS, partial arousal parasomnias have clinical features of both the awake (ambulation, vocalizations) and the sleeping (high arousal threshold, unresponsiveness to the environment) states; there is usually amnesia for the events. The typical timing of partial arousal parasomnias during the first few hours of sleep is related to the predominance of SWS in the first third of the night; the duration is typically a few minutes (sleep terrors) to an hour (confusional arousals). Sleep terrors are sudden in onset and characteristically involve a high degree of autonomic arousal (i.e., tachycardia, dilated pupils), while confusional arousals typically arise more gradually from sleep, may involve thrashing around but usually not displacement from bed, and are often accompanied by slow mentation on arousal from sleep (“sleep inertia”). Sleepwalking may be associated with safety concerns (e.g., falling out of windows, wandering outside). Avoidance of, or increased agitation with, comforting by parents or attempts at awakening are also common features of all partial arousal parasomnias.
Nelsons
A nine-month-old child is reviewed because of concerns about the appearance of his face. He
suffered birth trauma related to shoulder dystocia. A brachial plexus injury was identified at birth.
What level of the brachial plexus has been injured to explain the facial findings?
A. C5.
B. C6.
C. C7.
D. C8.
E. T1.
E. T1
Klumpke paralysis is a rare form of brachial palsy, in which injury to the 7th and 8th cervical nerves and the 1st thoracic nerve produces a paralyzed hand and ipsilateral ptosis and miosis (Horner syndrome) if the sympathetic fibers of the 1st thoracic root are also injured. Mild cases may not be detected immediately after birth. Differentiation must be made from cerebral injury; from fracture, dislocation, or epiphyseal separation of the humerus; and from fracture of the clavicle. MRI demonstrates nerve root rupture or avulsion.
A nine-month-old girl is referred by her general practitioner because of recurrent events occurring on a daily basis over the last two weeks. The episodes are stereotyped and consist of her stopping what she is doing, flexing at her trunk, and pressing her hands above her inguinal region. There is associated tremulousness and jaw rigidity. The events last one to two minutes with her becoming red in the face and grunting. She seems to be preoccupied and gets distressed if touched or moved. After the event, the child goes to sleep. The events never occur in sleep.
The most likely diagnosis is:
A. dystonia.
B. frontal lobe seizures.
C. gastroesophageal reflux.
D. infantilemasturbation.
E. urinary infection.
D. Infantile masturbation
Infantile Masturbation
Very common in childhood. Peak at approx 4 years. In infancy and early childhood, usually practiced by rubbing thighs together, rhythmic body movement and pelvic thrusts. Child may appear to be in a trance with a flushed face, glassy stare and audible breathing. If orgasm occurs, may be followed by general relaxation, pallor and sweating. Child may appear exhausted and fall asleep. (Childhood Masturbation. Clinical Paediatrics, 1993).
Dystonia
Dystonia is a movement disorder characterized by involuntary, sustained muscle contractions that result in twisting and repetitive movements or abnormal postures. The clinical features of dystonia vary according to anatomic location, age of onset, and etiology. Early onset dystonia usually begins in a leg, often as intorsion of the foot. Spread from one leg to other body areas occurs in approximately 50 to 90 percent of children, usually within five years of onset. Late onset primary focal dystonia may involve different body areas.
Frontal Lobe Seizures
Frontal lobe seizures often occur at night and can be very numerous and brief (
Gastroesophageal Reflux
GER is common in infants and usually is not pathological. Regurgitation is present in 50 to 70 percent of all infants, peaks at age four months, and typically resolves by one year. A small minority of infants with GER develop other symptoms suggestive of GERD, including feeding refusal, irritability, hematemesis, anemia, respiratory symptoms, and failure to thrive.
Urinary Infection
In a meta-analysis of the diagnostic accuracy of the symptoms and signs of UTI in children younger than two years, the following symptoms and signs were the most helpful in identifying children with UTI:
- History of UTI (likelihood ratio [LR] 2.3)
- Temperature >40ºC (LR 3.2)
- Suprapubic tenderness (summary LR 4.4)
- Lack of circumcision (summary LR 2.8)
Up to Date, Nelsons
A 21-month-old girl presents, with her siblings, with a viral upper respiratory tract infection. Her facial features are noted to be different from her siblings and this has been present since birth. A photograph is shown (the patient is seated in the middle). She has no history of feeding or breathing difficulties as an infant. On examination her eye movements are normal with normal pupillary responses. Her smile is equal and symmetrical. What is the most likely diagnosis?

A. Bilateral facial nerve (VII) palsy.
B. Bilateral oculomotor (III) nerve palsy.
C. Congenital myasthenia gravis.
D. Congenital ptosis.
E. Möbius syndrome.
D. Congenital ptosis
Congenital Ptosis
Congenital ptosis is most often associated with absence or reduction of striated levator palpebrae superioris muscle. Müller’s muscle remains relatively intact.
Congenital ptosis is usually unilateral (in 69 to 75 percent), neurologically isolated, and nonprogressive. There can be a familial association, but it may be unrecognized if family members are only mildly affected. Levator function (LF) varies in proportion to the degree of ptosis. Lid creases are often absent or lower than normal. Other ophthalmologic findings may include amblyopia and strabismus in 20 to 30 percent.
Bilateral Facial Nerve Palsy
Extremely rare. Congenital cause is usually Mobius syndrome. Unilateral due to birth injury more common.
Bilateral Oculomotor nerve palsy
The third cranial nerve supplies the levator muscle of the eyelid and four extraocular muscles: the medial rectus, superior rectus, inferior rectus, and inferior oblique. The superior oblique muscle is innervated by cranial nerve IV and the lateral rectus muscle by cranial nerve VI. In addition, the third cranial nerve constricts the pupil through its parasympathetic fibers that supply the smooth muscle of the ciliary body and the sphincter of the iris. Children with congenital third nerve palsies may not complain of diplopia because they ignore or suppress the second image or because they have superimposed amblyopia; often they are brought to medical attention by their parents, who have noticed ptosis or strabismus.
Congenital Myasthenia Gravis
Newborns with congenital myasthenia frequently have ptosis, in contrast to patients with the transient disorder. In addition, they typically demonstrate ophthalmoplegia and bulbar and respiratory muscle weakness. Affected infants may have fluctuating generalized hypotonia and weakness and life-threatening episodes of apnea. Arthrogryposis may be present at birth
Mobius syndrome
The distinctive features of Möbius syndrome are congenital facial paresis and abduction weakness. The facial palsy is commonly bilateral, often asymmetric, and often incomplete, tending to spare the lower face and platysma. Ectropion, epiphora, and exposure keratopathy can develop. The abduction defect may be unilateral or bilateral. Esotropia is common.
A 12-year-old boy presents with a two year history of tremor predominantly affecting his hands. The tremor is worse when he is anxious, upset or active. There is a family history of tremor in a paternal grandparent.
On examination, the tremor is present when his hands are outstretched in front of him. The tremor worsens when asked to perform finger-to-nose movements. Examination is otherwise normal, including gait.
The most likely diagnosis is:
A. anxiety.
B. cerebellar tremor.
C. dystonia.
D. essential tremor.
E. Wilson disease.
D. essential tremor.
Tremor is a rhythmic, oscillatory movement around a central point or plane, which results from the action of antagonist muscles. Tremor can affect the extremities, head, trunk, or voice and can be classified by both its frequency (slow [4 Hz], intermediate [4-7 Hz], and fast [>7 Hz]) and by the context in which it is most pronounced. Rest tremor is maximal when the affected body part is inactive and supported against gravity, whereas postural tremor is most notable when the patient sustains a position against gravity. Action tremor occurs with performance of a voluntary activity and can be subclassified into simple kinetic tremor, which occurs with limb movement, and intention tremor, which occurs as the patient’s limb approaches a target and is a feature of cerebellar disease.
Essential tremor
Autosomal dominant condition.
Essential tremor is characterized by a slowly progressive, bilateral, 4-9 Hz postural tremor that involves the upper extremities and occurs in the absence of other known causes of tremor. Mild asymmetry is common, but ET is rarely unilateral. ET may be worsened by actions, such as trying to pour water from cup to cup, and affected adults may report a history of ethanol responsiveness. Most young children present to care because a parent, teacher, or physician has noticed the tremor, rather than because the tremor is causing impairment. That being the case, most children with ET do not require pharmacologic intervention. If they are having difficulty with their handwriting or self-feeding, an occupational therapy evaluation and/or assistive devices, such as wrist weights and weighted silverware, may be helpful. Teenagers tend to report more impairment from ET; however, it is unclear whether this is due to actual or subjective progression of the tremor. Teenagers who do require pharmacotherapy usually respond to the same medications that are used in adults—propranolol and primidone. Propranolol, which is generally considered the first-line treatment.
Some patients with ET develop enhanced physiologic tremor due to anxiety or other adrenergic mechanisms, thereby aggravating the underlying tremor. ET is typically relieved by small amounts of alcohol but, in contrast with physiologic tremor, is not usually aggravated by caffeine.
Anxiety
These are typically complex resting, postural, and action tremors with abrupt onset, a static course, changeable features, functional disability out of proportion to tremor magnitude, and resistance to treatment. Any body part may be involved, but, remarkably, the fingers are often spared with much of the upper limb tremor occurring at the wrist. Other features of psychogenic movement disorders are also often present, such as inconsistent display of symptoms and clinical features that are incongruous with known tremors.
Examination usually shows variable tremor frequency or tremor entrainment (ie, shift of tremor frequency to the speed of contralateral finger tapping), especially with distraction maneuvers such as repetitive tapping tasks with an uninvolved opposite hand or foot.
Cerebellar Tremor
Cerebellar tremors can be postural, action, or intention (kinetic). In severe cases, they can spill over to also occur at rest. Tremor frequency is typically low (3 to 4 Hz) and can be associated with ataxia and dysmetria.
Rubral tremor is caused by disturbances of cerebellothalamic projections; it is usually present at rest and increases during postural fixation and voluntary activity. Titubation of the head and neck (“to and fro” movements) may be associated with cerebellar tremor; it is distinguished from essential head tremor by the presence of other cerebellar findings.
Dystonia
Dystonia is a movement disorder characterized by involuntary, sustained muscle contractions that result in twisting and repetitive movements or abnormal postures. The clinical features of dystonia vary according to anatomic location, age of onset, and etiology. Early onset dystonia usually begins in a leg, often as intorsion of the foot. Spread from one leg to other body areas occurs in approximately 50 to 90 percent of children, usually within five years of onset. Late onset primary focal dystonia may involve different body areas. Arm dystonia is manifested as a posturing of the hand and/or arm. This problem may be variably present with arms outstretched, but is often not present at rest. Overlying dystonic spasms may occur and resemble essential tremor. However, in contrast to essential tremor, dystonia is often unilateral, and triggered by specific activities, such as writing or typing.
**_Wilson Disease_** Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport. It is found worldwide, with a prevalence of approximately 1 case in 30,000 live births in most populations. Impaired biliary copper excretion leads to accumulation of copper in several organs, most notably the liver, brain, and cornea. Over time, the liver is progressively damaged and eventually becomes cirrhotic. A small percent of patients develop acute liver failure, most often in the setting of advanced fibrosis of the liver. In addition, patients may develop neurologic complications, which can be severe. The clinical manifestations of Wilson disease are predominantly hepatic, neurologic, and psychiatric, with many patients having a combination of symptoms. Hemolysis is also a common finding in patients with acute liver failure due to Wilson disease.
Tremors in Wilson disease may occur at rest or with action and may have multiple position and task-dependent characteristics. Some of the tremors seen include:
- A tremor that resembles essential tremor (variable amplitude and frequency, with arm, and sometimes head and leg involvement). Unlike essential tremor, the tremor in patients with Wilson disease often persists in its asymmetry and may not involve the voice.
- An intention (kinetic) tremor (low amplitude, medium-to-high frequency), seen most often in a distal upper extremity. Intention tremors typically increase in severity as the patient’s hand moves closer to its target.
- A postural tremor that occurs when the patient assumes a particular position. The classic tremor associated with Wilson disease is a wing-beating tremor, though it is not the most common type of tremor. The tremor is a low frequency, high amplitude tremor that is most prominent when the patient’s arms are held outstretched laterally or with the arms extended in front of the patient with the palms facing downward and the elbows flexed. The tremor increases in amplitude with increased duration of posture holding. The name comes from the fact that the movement of the patient’s arms may be reminiscent of a bird’s flapping wings.
- A unilateral, rest tremor may be present, but is rarely seen in isolation. When present, it is typically accompanied by postural and intention tremors that often dominate the clinical picture.
A seven-year-old boy presents with a three month history of staring spells associated with eye
flickering and lip smacking movements. His electroencephalogram (EEG) is shown below.
Which of the following anticonvulsants is most likely to aggravate the underlying seizure disorder in
this patient?
A. Carbamazepine.
B. Clonazepam.
C. Ethosuximide.
D. Sodium valproate.
E. Topiramate.
A. Carbamazepine.
History is suggestive of absence seizure in which the typical history is onset 5-7 years of age, up to hundreds of events per day lasting a few seconds and accompanied by flutter or upward rolling of eyes. May have simple automatisms such as lip smacking, clothing picking, minimal falling forward of the head. No postictal period and the patient usually resumes what they were doing immediately prior to seizure.
Carbamazepine reported to worsen absence seizures.
Recommended treatment varies amongst organisations. Ethosuxamide, Valproic Acid and Lamotragine are the three variations.
A seven-year-old boy with a diagnosis of intractable epilepsy is prescribed an anticonvulsant. Six months later, he presents with a four hour history of colicky abdominal pain and vomiting. Examination reveals him to be distressed and pale. He is not jaundiced. During the examination he suffers a bout of pain. A diagnosis of renal colic is made.
Which of the following anticonvulsants is most likely to be associated with this clinical scenario?
A. Carbamazepine.
B. Lamotrigine.
C. Phenytoin.
D. Sodium valproate.
E. Topiramate.
E. Topiramate.
- Carbamazepine - Anemia, agranulocytosis, CNS depression, TENS, Stevens Johnson syndrome, hypersensitivity, hyponatremia, suicidal ideation, activate latent psychosis, confusion/agitation.
- Lamotrigine - Aseptic meningitis, blood dyscrasias, CNS depression, multiorgan hypersensitivity, severe and potentially life threatening skin rashes (Stevens Johnson, TENS, angiodema).
- Phenytoin- Blood dyscrasias, decreased bone mineral density, hypotension and severe cardiac arrhythmias with IV infusion (must be done slowly), TENS, Steven-Johnson Syndrome, hypersensitivity, suicidal ideation, gingival hyperplasia, megaloblastic anemia, hyperglycemia.
- Sodium Valproate - CNS depression, hepatic failure, fulminant hepatitis, hyperammonemia/encephalopathy, hypothermia, pancreatitis, multi organ hypersensitivity, suicidal ideation, thrombocytopenia, spina bifida in pregnancy.
- Topiramate - CNS effects, Glaucoma, hyperammonemia/encephalopathy, hyperthermia, metabolic acidosis, renal calculus, suicidal ideation.
Renal calculus: Topiramate exhibits weak carbonic anhydrase inhibitory properties and may increase the risk of kidney stones about 2-4 times that of the untreated population. Kidney stones have been reported in children and adults (incidence higher in males). The risk of stones may be reduced by increasing fluid intake.
Up to Date
A 15-year-old with a history of complex partial seizures is currently on carbamazepine. He develops acute sinusitis and is prescribed an antibiotic by his general practitioner. He presents to the emergency room with depressed conscious state and status epilepticus. He is found to have markedly elevated carbamazepine levels.
Which of the following antibiotics is he likely to have been prescribed?
A. Amoxicillin-clavulinic acid.
B. Cefaclor.
C. Ciprofloxacin.
D. Doxycycline.
E. Erythromycin.
E. Erythromycin.
Carbamazepine is a CYP 3A4 substrate as well as an inducer of multiple cytochrome P450 isoenzymes and may be subject to a number of drug-drug interactions. Toxic levels of carbamazepine may result from CYP 3A4 inhibition due to erythromycin, fluoxetine, and cimetidine, among other drugs.
CYP 3A4 inducers, such as phenytoin and phenobarbital, may decrease carbamazepine levels. Plasma levels of many medications, including haloperidol and clozapine, are reduced in the setting of carbamazepine use.
Up to Date
Which subgroup of children with cerebral palsy is at most risk of hip displacement?
A. Ataxic.
B. Hypotonic.
C. Spastic diplegia.
D. Spastic hemiplegia.
E. Spastic quadriplegia.
E. Spastic quadriplegia.
Children who suffer from cerebral palsy and do not walk before the age of 5 have a 58% incidence of hip dislocation (44% bilateral, 14% unilateral). Other factors involved in the causation of hip dislocation include four limb cerebral palsy and tightness of the adductor and iliopsoas muscles with concomitant weakness in the abductor muscles at the hip. (BMJ. 1999 April 17; 318(7190): 1021–1022)
Spastic diplegia is bilateral spasticity of the legs that is greater than in the arms.
Infants with spastic hemiplegia have decreased spontaneous movements on the affected side and show hand preference at a very early age. The arm is often more involved than the leg and difficulty in hand manipulation is obvious by 1 yr of age.
Spastic quadriplegia is the most severe form of CP because of marked motor impairment of all extremities and the high association with mental retardation and seizures.
(Nelsons)
A six-year-old boy presents to the Emergency Department with acute urinary retention requiring urgent catheterisation. He has been previously well, but his parents state that he has complained of leg and lower abdominal pain for the last three days and has been walking ‘a bit funny’. On examination he is alert and cooperative with normal upper limb power, reflexes and light touch sensation. He has a broad based gait and is unable to arise from a squatting position without assistance. His lower limb reflexes are difficult to elicit and sensation is reduced in a patchy fashion in both lower limbs.
Which of the following is the most likely diagnosis?
A. Conversion disorder.
B. Guillain-Barré syndrome.
C. Multiple sclerosis.
D. Poliomyelitis.
E. Transverse myelitis.
Transverse myelitis.
Transverse Myelitis - Rapid development of both motor and sensory deficits. It has multiple causes and tends to occur in 2 distinct contexts. Small children, 3 yr of age and younger, develop spinal cord dysfunction over hours to a few days. They have a history of an infectious disease, usually of viral origin, or of an immunization within the few weeks preceding the 1st development of their neurologic difficulties. The clinical loss of function is often severe and may seem complete. Although a slow recovery is common in these cases, it is likely to be incomplete. The likelihood of independent ambulation in these small children is about 40%. The pathologic findings of perivascular infiltration with mononuclear cells imply an infectious or inflammatory basis. Overt necrosis of spinal cord can be seen.
In older children, the syndrome is somewhat different. Although the onset is also rapid with a nadir in neurologic function occurring between 2 days and 2 wk, recovery is more rapid and more likely to be complete. Pathologic or imaging examination shows acute demyelination.
Guillain-Barre - The paralysis usually follows a nonspecific viral infection by about 10 days. Weakness usually begins in the lower extremities and progressively involves the trunk, the upper limbs, and finally the bulbar muscles, a pattern known as Landry ascending paralysis. Proximal and distal muscles are involved relatively symmetrically, but asymmetry is found in 9% of patients. The onset is gradual and progresses over days or weeks. Particularly in cases with an abrupt onset, tenderness on palpation and pain in muscles is common in the initial stages. Affected children are irritable. Weakness can progress to inability or refusal to walk and later to flaccid tetraplegia. Paresthesias occur in some cases.
Multiple Sclerosis - Multiple sclerosis (MS) is a chronic demyelinating disorder of the brain, spinal cord and optic nerves characterized by a relapsing-remitting course of neurologic episodes separated in time and space. Presenting symptoms in pediatric MS include hemiparesis or paraparesis, unilateral or bilateral optic neuritis, focal sensory loss, ataxia, diplopia, dysarthria, or bowel/bladder dysfunction.
Poliomyelitis - Weakness may vary from one muscle or group of muscles, to quadriplegia, and respiratory failure. Tone is reduced, nearly always in an asymmetric manner. Proximal muscles usually are affected more than distal muscles, and legs more commonly than arms. Reflexes are decreased or absent. The sensory examination is almost always normal.
Weakness typically worsens over two to three days, although sometimes worsening can progress for up to a week. Bulbar involvement occurs in 5 to 35 percent of patients, producing dysphagia, dysarthria, and difficulty handling secretions. There may be encephalitis, usually in infancy. Respiratory insufficiency may occur.
A six-year-old girl presents to her paediatrician with irritability and unsteadiness. On questioning there is a seven week history of double vision and ataxia. Cranial nerve exam shows a left abducens nerve palsy with mild right facial weakness. She has very brisk reflexes with bilaterally upgoing plantar responses. MRI scan of her brain is performed and shown below.

The MRI is most consistent with:
A. brain abscess.
B. cerebellitis.
C. craniopharyngioma
D. disseminated encephalomyelitis.
glioma.
CLINICAL PRESENTATION — Diffuse pontine gliomas can present with varied symptoms depending on the location of the lesion. These include:
Cranial nerve palsies, long tract signs (eg, hemiparesis) and ataxia in over 50 percent of patients. Cranial nerves VI and VII are most commonly affected but III, IV, IX and X may also be involved.
Hydrocephalus with elevated intracranial pressure (ICP) is observed in fewer than 10 percent of patients at presentation.
Intratumoral hemorrhage can be present in about 6 percent of patients at the time of diagnosis [23]. Symptomatic hemorrhage may eventually occur in up to 20 percent of children, usually in necrotic areas of tumor.
None of these symptoms is pathognomonic of diffuse pontine gliomas. Other brainstem tumors can present with similar symptoms.
Cervicomedullary tumors typically present with lower cranial nerve dysfunction and ataxia.
Focal tumors tend to interfere with the cranial nerves adjacent to the site of origin.
Unlike other brainstem tumors, tectal plate lesions present with hydrocephalus in over 90 percent of cases. Although these tumors are rarely biopsied, those that have been studied are almost always low-grade astrocytomas.
A six-year-old boy is referred for assessment of progressive unsteadiness of gait over the preceding year. Prior to the onset, his mother recalls that he had chicken pox. In other respects he has been well and there is no family history of similar problems. His examination was significant for gait ataxia and dysmetria. A photograph of his eye is shown below.

Which of the following investigations would be expected to be abnormal?
A. Alpha- fetoprotein.
B. Copper and caeruloplasmin.
C. Lysosomal enzymes.
D. Uric acid.
E. Vitamin E.
A. Alpha- fetoprotein
The photograph shows oculocutaneous telangiectasias. This, combined with the history of progressive ataxia makes ataxia-telangiectasia most likely.
The telangiectasias are seen on the bulbal conjunctiva, over the bridge of the nose, on the ears and exposed surfaces of the extremities.
Lab findings include elevated levels of alpha feto-protein, increased incidence of chromosome breaks, and decreased IgA, IgG 2 and 4, and IgE levels (in >50% of patients).
Children have a 50-100 times increased risk of lymphoreticular tumours, and death results from infection or tumour dissemination. Ataxia begins approx age 2 and progresses to loss of ambulation by adolescence. Reference: Nelson’s 19th edition, pages 735, 2055.
A 15-year-old girl presents with a history of deterioration of night vision and peripheral vision. Her past history includes mild global developmental delay, obesity and surgery in infancy for 4-limb post-axial polydactyly. Eye examination reveals a pigmentary retinopathy.
The most likely diagnosis is:
A. autosomal recessive retinitis pigmentosa.
B. bardet-biedl syndrome.
C. choroideraemia.
D. McKusick-kaufman syndrome.
E. refsum disease.
B. bardet-biedl syndrome.
Retinitis pigmentosa -
- progressive degeneration and dysfunction of the retina, primarily affecting photoreceptor and pigment epithelial function.
- Night and peripheral vision are lost progressively, leading to a constricted visual field and markedly diminished vision in some patients.
*Bardet-Biedl syndrome *
- autosomal recessive
- obesity
- hypogenitalism in men,
- mental retardation,
- retinal dystrophy,
- polydactyly,
- renal malformations (particularly calyceal abnormalities),
- hypertension
- and, over time, progressive chronic kidney disease.
Choroideremia is an x-linked recessive retinal degenerative disease.
McKusick-Kaufman
- affects the development of the hands and feet, heart, and reproductive system.
- characterized by a combination of three features:
- polydactyly
- heart defects, and
- genital abnormalities.
Refsum Disease - Peroxisomal disorder. Classic Refsum disease is characterized by the presence of four clinical abnormalities:
- Retinitis pigmentosa
- Peripheral polyneuropathy
- Cerebellar ataxia
- Elevated cerebrospinal fluid protein concentration (100 to 600 mg/dL) without an increase in cells
A six-year-old girl presents to the emergency department with a persistent headache and dizziness following a minor fall one week previously in which there was no loss of consciousness. She has had several vomits today and feels unwell. On examination, she is afebrile with a respiratory rate of 24/minute, a heart rate of 110/minute and a blood pressure of 96/55 mmHg. She is pale and quiet but able to respond appropriately to questions and commands. There are no focal neurological signs. Her non-contrast computed tomography (CT) scan of the head is shown below.
Which of the following is the most likely diagnosis?
A. Extradural haematoma.
B. Intracerebral haemorrhage.
C. Meningioma.
D. Subarachnoid haematoma.
E. Subdural haematoma.
A six-month-old girl is referred to the outpatient clinic for assessment of delayed development. She will not reach, sit unsupported or roll. She weighs 7.6 kg (50th-75thpercentile), and measures 67cm in length (50th%). Her head circumference is 41 cm (25th%). Her head and facial appearance is shown below.

The most likely reason for this appearance is:
A. coronal synostosis.
B. deformational plagiocephaly.
C. lambdoid synostosis.
D. metopic synostosis.
E. sagittal synostosis
D. metopic synostosis.
A 36-week-male infant has a focal seizure at two days of age. Investigation of this seizure included the following diffusion weighted magnetic resonance image of the brain on Day three:

Which of the following neurological conditions is this child most likely to develop?
A. Ataxic cerebral palsy.
B. Choreoathetoid cerebral palsy.
C. Spastic diplegia.
D. Spastic hemiplegia.
E. Spastic quadriplegia.
D. Spastic hemiplegia.
MRI shows acutely infarcted area. Unilateral lesion in MCA territory, affecting contralateral arm, hand and face. Causes spastic hemiplegia.
A 13-year-old girl presents to her paediatrician with a four month history of progressive weakness. The weakness is diffuse and she complains of inability to run, and climb stairs. She frequently falls. Her examination shows diffuse 3/5 weakness in her peripheries, absent reflexes with downgoing toes. She has no cranial nerve abnormalities. Sensory examination reveals a symmetrical glove and stocking distribution of altered touch.
Nerve conduction studies show markedly slowed nerve conduction velocities and conduction block.
The most likely diagnosis is:
A. chronic inflammatory demyelinating polyneuropathy.
B. dermatomyositis.
C. Guillain-Barré syndrome.
D. hereditary motor sensory neuropathy.
E. myasthenia gravis.
A. Chronic Inflammatory Demyelinating Polyneuropathy
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
- Symmetric
- Motor involvement > sensory.
- Weakness of both proximal and distal muscles,
…..this pattern is a hallmark of acquired demyelinating polyneuropathy.
Also…
- Cranial nerve and bulbar involvement occur in 10 to 20 percent of patients.
- Globally diminished or absent reflexes
- Sensory impairment in CIDP is usually greater for vibration and position sense than for pain and temperature sense, reflecting the involvement of larger myelinated fibers.
Dermatomyositis
- Present with either rash, insidious onset of weakness or both.
- Rash - 2x classic rashes.
- The characteristic heliotrope rash is a blue-violet discoloration of the eyelids that may be associated with periorbital edema. Facial erythema crossing the nasolabial folds is also common, in contrast to the malar rash without nasolabial involvement typical of systemic lupus erythematosus.
- Classic Gottron papules are bright pink or pale, shiny, thickened or atrophic plaques over the proximal interphalangeal joints and distal interphalangeal joints and occasionally on the knees, elbows, small joints of the toes, and ankle malleoli.
- Weakness is proximal and often insidious and difficult to differentiate from fatigue at onset.
- Parents may report difficulty climbing stairs, combing hair, and getting out of bed.
- Examination reveals inability to perform a sit-up, head lag in a child after infancy, and Gower sign (use of hands on thighs to stand from a sitting position). Patients with JDM may roll to the side rather than sit straight up from lying to compensate for truncal weakness.
- Approximately half of children exhibit muscle tenderness as a result of muscle inflammation.
- Esophageal and respiratory muscles are also affected, resulting in aspiration or respiratory failure.
- Evidence of small vessel inflammation is often visible in the nail folds and gums as individual capillary loops that are thickened, tortuous, or absent.
- Muslce enzymes raised - CK, LDH, AST, ALT.
Guillain-Barré syndrome
- Postinfectious (10 days post non specific viral infxn) polyneuropathy involving mainly motor but sometimes also sensory and autonomic nerves.
- Gradual, progressive weakness over days to weeks.
- Ascending paralysis
- Weakness can progress to inability or refusal to walk and later to flaccid tetraplegia.
- Symmetric weakness with diminished or absent reflexes. Minimal loss of sensation occurs, despite paresthesias.Variable initial physical findings can render making an early diagnosis difficult. Examples of less common signs include predominant proximal weakness, hyperreflexia with extensor plantar response, and sphincter disturbances that raise concerns about a spinal cord lesion.
Hereditary Motor Sensory Neuropathy
- a group of progressive diseases of peripheral nerves. Motor components generally dominate the clinical picture, but sensory and autonomic involvement is expressed later.
- Charcot-Marie-Tooth Disease is most common. Autosomal dominant.
- Most patients are asymptomatic until late childhood or early adolescence, but young children sometimes manifest gait disturbance as early as the 2nd year of life. The peroneal and tibial nerves are the earliest and most severely affected. Children with the disorder are often described as being clumsy, falling easily, or tripping over their own feet.
- Wasting of muscles of anterior compartment of lower leg lead to characteristic stork-like contour.
- Pes cavus deformities develop due to denervation of intrinsic foot muscles.
Myasthenia Gravis
- chronic disease characterized by rapid fatigability of striated muscle.
- Autoimmune disorder which is generally not hereditary, but some familial forms exist.
- Three clinical varieties are distinguished in childhood: juvenile myasthenia gravis in late infancy and childhood, congenital myasthenia, and transient neonatal myasthenia.
- Rapid fatigue of muscles is a characteristic feature of myasthenia gravis that distinguishes it from most other neuromuscular diseases.
- Left untreated, myasthenia gravis is usually progressive and can become life threatening because of respiratory muscle involvement and the risk of aspiration, particularly at times when the child is otherwise unwell with an upper respiratory tract infection. Familial myasthenia gravis usually is not progressive.
