Decreased Activity Level - Case 2-3: 3-Month-Old Girl
Decreased Activity Level - Case 2-3: 3-Month-Old Girl: Excerpt from Pediatric Complaints and Diagnostic Dilemmas
I. History of Present Illness
A 3-month-old female infant presented to the emergency department with a 1-week
history of increasing fussiness. Three days before admission, the infant
developed poor breast-feeding and weak suck. Although the number of wet diapers
had not changed, they were less saturated after the poor feeding. The parents
related that the child
's cry was not as loud as usual. The child had had no bowel movement during the
previous 4 days. The child was evaluated by her pediatrician and referred to
the emergency department. There was no history of fever, vomiting, or diarrhea,
and there had been no ill contacts.
II. Past Medical History
The child had been healthy until the past week. Pregnancy and delivery were
uncomplicated. There was a family history of pyloric stenosis in the father. A
2-year-old sibling was healthy.
III. Physical Examination
T, 37.4°C; RR, 30/min; HR, 156 bpm; BP, 100/80 mm Hg
Weight and height, 50th percentile
On examination she was alert but had a weak cry. Her head and neck examination
was remarkable for bilateral ptosis and decreased facial expression. Cardiac
and pulmonary examinations were normal. Her abdomen was distended but soft. On
neurologic examination, she had a weak gag and poor tone. Her deep tendon
reflexes were intact.
IV. Diagnostic Studies
Laboratory testing revealed a WBC count of 10,100 cells/mm3, with 33% segmented neutrophils, 56% lymphocytes, and 8% monocytes. Hemoglobin
was 11.7 g/dL; platelets, 490,000/mm
3; sodium, 139 mmol/L; potassium, 4.9 mmol/L; chloride, 106 mmol/L; carbon
dioxide, 18 mmol/L; blood urea nitrogen, 12 mg/dL; creatinine, 0.3 mg/dL; and
glucose, 58 mg/dL. A negative inspiratory force was measured at 20 cm H
2O.
V. Course of Illness
Intravenous glucose and normal saline were administered in the emergency
department. The patient ultimately required endotracheal intubation due to
inability to protect her airway. Her appearance combined with historical
features suggested a diagnosis that was confirmed by additional testing.
Discussion: Case 2-3
I. Differential Diagnosis
The diagnostic possibilities in this child with decreased activity and hypotonia
include neurologic conditions that involve either the upper motor neuron
(cerebral cortex and spinal cord) or the lower motor neuron (anterior horn
cell, peripheral nerve, neuromuscular junction, or muscle). Upper motor neuron
diseases, such as stroke, hemorrhage, trauma, oncologic processes, tethered
cord, epidural abscess, and transverse myelitis, are possibilities. Lower motor
diseases include poliomyelitis, spinal muscular atrophy, ascending
Guillain-Barr
é syndrome, heavy metal poisoning, congenital myasthenia gravis, paralysis,
botulism, organophosphate poisoning, inflammatory myopathy, and muscular
dystrophies. Infectious etiologies such as overwhelming sepsis, meningitis, and
metabolic encephalopathies should be considered. Ingestions can cause weakness,
particularly ingestion of barbiturates. Inborn errors of metabolism should be
considered as well. Chromosomal disorders such as Down syndrome, Prader-Willi
syndrome, achondroplasia, familial dysautonomia, and trisomy 13 may manifest
with hypotonia as an early clinical feature. The history of weakness, decreased
feeding, weak cry, and constipation is a classic presentation of infant
botulism.
II. Diagnosis
The infant had significant hypotonia but was not tachycardic or hypotensive. An
electromyogram (EMG) was obtained to assist with confirmation of the suspected
diagnosis of infantile botulism. The EMG revealed a 56% incremental response
that is consistent with a presynaptic neuromuscular junction disorder. The
pattern is consistent with infantile botulism. Furthermore, stool studies
isolated the botulinum toxin, type B.
The diagnosis of infant botulism was made.
III. Incidence and Epidemiology
Infantile botulism occurs after the ingestion of botulinal spores. Spores then
germinate in the intestine, and the organism,
Clostridium botulinum, produces toxin. The botulinal toxin prevents the release of acetylcholine at
the neuromuscular junction. The acidity of the infant
's stomach is not great enough to kill the ingested spores. Spores are frequently
found in honey and soil. The adult form of the illness occurs after ingestion
of preformed toxin. Although the disease has been reported in all 50 states, it
is more common in Pennsylvania, Hawaii, California, Utah, and Arizona. A
significant number of the infants with infant botulism are breast-fed infants.
It is possible that breast-fed infants develop different intestinal microflora
than formula-fed infants, making them more susceptible to disease.
IV. Clinical Presentation
The average age at onset is 10 weeks, with a range of 10 days to 7 months.
Patients typically present to medical attention with constipation, poor
feeding, irritability, and weakness. Approximately 1 week after the onset of
symptoms, additional neurologic symptoms are seen, such as facial diplegia,
weak suck, poor gag, and hypotonia. On physical examination, patients have
progressive weakness, as manifested by ptosis, poor head control, and
diminished suck, gag, and respiratory effort. The paralysis progresses in a
descending fashion. Seventy percent of patients with infantile botulism have
respiratory failure that necessitates mechanical ventilation. Patients also
have autonomic dysfunction, manifested by decreased intestinal motility,
distended urinary bladder, decreased tear production, decreased saliva
production, periodic flushing and sweating, and fluctuations in heart rate and
blood pressure. Reflexes are diminished. Other complications include syndrome
of inappropriate secretion of antidiuretic hormone (SIADH) and urinary tract
infections.
V. Diagnostic Approach
Typically, the diagnosis is made on a clinical basis from the history and
physical examination findings.
Electromyography. EMG can be helpful in making the diagnosis, particularly if an incremental
response is found. Brief, small-amplitude, overly abundant motor unit
potentials suggest the diagnosis of infant botulism.
Stool studies. Although results of stool testing are not immediately available, the test is
helpful to confirm the diagnosis by detection of botulinum toxin.
VI. Treatment
The mainstay of treatment is supportive care. Most children require nasogastric
tube feedings. Anticipation of complications such as respiratory failure,
urinary retention, and SIADH are critical. Although there may be a role for
augmentation of intestinal motility to help remove botulinal spores, there is
no clear role for antibiotics. Additionally, aminoglycosides may worsen the
paralysis by potentiating the neuromuscular blockade.
A new development in the treatment of infantile botulism is the use of human
botulism immune globulin (BIG). When given within 3 days of hospitalization,
BIG was shown to decrease duration of hospitalization, length of mechanical
ventilation, and length of nasogastric tube feedings. The cost of
hospitalization was also reduced by half.
VII. References
1. Frankovich TL, Arnon SS. Clinical trial of botulism immune globulin for
infant botulism.
West J Med 1991;154:103.
2. Long SS, Gajewski JL, Brown LW, et al. Clinical, laboratory, and
environmental features of infant botulism in southeastern Pennsylvania.
Pediatrics 1985;75:935–941.
3. Wigginton JM, Thill P. Infant botulism: a review of the literature. Clin Pediatr 1993;32:669–674.
Book Source Details
- Book Title: Pediatric Complaints and Diagnostic Dilemmas
- Author(s): Samir S Shah MD; Stephen Ludwig MD
- Year of Publication: 2003
- Copyright Details: Pediatric Complaints and Diagnostic Dilemmas, Copyright © 2003 Lippincott Williams & Wilkins.
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