Acute neuropathic processes:
Botulism, degenerative leukodystrophies, metachromatic leukodystrophy and
Krabbe disease,spinal muscular atrophy, Charcot-Marie-Tooth disease (hereditary
motor and sensory neuropathy type I), Dejerine-Sottas disease (hereditary motor
and sensory neuropathy type III) and Refsum disease, Guillain-Barré syndrome,
Chronic inflammatory demyelinating polyneuropathy, Miller-Fisher variant of
Guillain-Barré syndrome
Acute neuropathic processes are uncommon in children and differ from those seen
in adults. Among adults,
diabetes, vascular disease, and toxins are common causes of chronic sensory or
sensorimotor neuropathy with deficits in a stocking-glove
distribution. Among children,
acute and chronic neuropathies have variable patterns of
weakness in the feet, legs, hands, or face; diminished-to-absent reflexes; or
sensory loss (eg, numbness and paresthesias) distally. Childhood
disorders affecting the neuromuscular junction, such as
botulism, can appear in a similar fashion, although reflexes usually are normal
to diminished, as described for the infant in the vignette.
Chronic childhood neuropathies stem from
degenerative disorders, hereditary disease,
demyelination,
or rarely toxin exposure. The
degenerative leukodystrophies,
such as metachromatic leukodystrophy and Krabbe disease,
are associated late in their courses with neuropathy
from dysmyelination, but reflexes are brisk because
of overshadowing brain white matter degeneration.
Infantile spinal muscular atrophy
results from degeneration of the anterior horn cells and
presents at birth or during the first year with hypotonia and more proximal than
distal weakness, followed by bulbar weakness. Tongue fasciculations are common.
Direct testing for the survival motor neuron gene has displaced muscle
and nerve biopsy as the preferred initial test for making this diagnosis.
Charcot-Marie-Tooth
disease (hereditary motor and sensory
neuropathy type I) manifests most frequently in the late
second decade with progressive distal lower extremity weakness, atrophy in the
intrinsic foot muscles, and pes cavus. Sensory abnormalities are
uncommon. Inheritance is autosomal dominant or X-linked.
Other rare hereditary neuropathies
include Dejerine-Sottas
disease (hereditary motor and sensory neuropathy
type III) and Refsum
disease.
Chronic inflammatory
demyelinating
polyneuropathy is a
disorder that
is similar to Guillain-Barré syndrome, but fluctuating and
chronic. Lead intoxication
in children usually causes central nervous system
dysfunction, such as neuropsychological and behavioral impairments,
rather than a motor neuropathy, as in adults.
Neuropathy from lead may occur in children who have sickle
cell disease. Arsenic
produces painful burning paresthesias as well as motor polyneuropathy.
Vincristine can lead to a chronic
peripheral motor neuropathy, but the drug does rarely produce striking jaw pain
or fulminant weakness. (Fulminant weakness may occur in patients who have
Charcot-Marie-Tooth
disease).
Acute neuropathies may be
demyelinating,
infectious, or rarely metabolic.
Guillain-Barré syndrome is
a postinfectious demyelinating polyneuropathy that presents over days to weeks
with ascending paralysis and areflexia.
Poliomyelitis and other
enteroviral illnesses can produce
a motor polyneuropathy with weakness in a spotty
distribution. Diphtheria
can cause a toxic neuropathy similar in appearance
to Guillain-Barré syndrome, but cranial neuropathies alsomay occur.
Certain tick species produce
paralysis by blocking acetylcholine release at
synapses and affecting large myelinated and sensory fibers. Tick paralysis
typically is ascending and accompanied by
areflexia. Respiratory
failure and cranial neuropathies may ensue. Removal of the tick leads to
a swift recovery. Acute intermittent
porphyria is an extremely
rare cause of acute polyneuropathy that is diagnosed by
detection of urine porphobilinogen.
The weakness of foodborne
and wound botulism often is mistaken for the
Miller-Fisher variant of
Guillain-Barré
syndrome (ie,
acute external ophthalmoplegia,
ataxia, and areflexia,
sometimes with facial weakness), diphtheric neuropathy, tick paralysis,
or even poliomyelitis. Botulism
is an acute flaccid paralytic illness caused by a neurotoxin produced by
Clostridium botulinum. The toxin migrates via the bloodstream to peripheral
cholinergic synapses, blocking
acetylcholine release and impairing autonomic and neuromuscular transmission.
Infant botulism typically
presents in babies younger than 6 months of age with several days of
constipation, followed by
difficulty in sucking, swallowing, crying, head control, or breathing, as
described for the infant in the vignette. Flaccid
descending paralysis then develops. The illness is more prevalent in
southern Pennsylvania, California, and Utah. The disease arises from
toxin produced in the gastrointestinal tract,
rather than by ingestion of the toxin. Diagnosis is established by demonstrating
the presence of the botulinum toxin in stool or serum.
References:
Pickett J, Berg B, Chaplin E, Brunstetter-Shafer MA. Syndrome of
botulism in infancy: clinical and electrophysiologic study. N Engl J
Med. 1976;295:770-772
Sarnat HB. Neuromuscular disorders. In: Behrman RE, Kliegman RM,
Jenson HB, eds. Nelson Textbook of Pediatrics. 16th ed. Philadelphia,
Pa: WB Saunders Co; 2000:1866-1893