Which of the following congenital anomalies usually resolves spontaneously?
Correct Answer B:
Clinical assessment for Genu varus or bow-leggedness is often made with the legs together by measuring the distance between the knees for bowing and the ankles for knock knee (genu valgum) deformity. A more accurate measurement would be the tibial femoral angle as seen on the standing x-ray. One must be careful that the legs are in neutral rotation when the x-ray is taken, as internal or external rotation will alter this angle.
Physiologic bow leg deformity should spontaneously correct by two years of age. No x-rays are usually necessary before then. Internal tibial torsion and external rotation contracture of the hips often accompany genu varum and tend to accentuate the deformity.
Treatment is reassurance and observation. Shoe corrections, splints and exercise programs do not produce any change different than the normal expected spontaneous correction.
→ Clubfoot is treated with manipulation, serial casting or surgery if it doesn't respond to nonsurgical treatments.
→ Developmental dysplasia of the hip must be treated, to prevent the development of degenerative arthritis of the hip (Pavlik harness or surgery).
→ Cleft lip (cheiloschisis) is a failure of fusion of maxillary and medial nasal processes. The repair of a cleft lip requires surgery.
→ Rigid flatfeet are uncommon and may be due to abnormal connections between the bones in the foot. Symptoms (pain) can often be relieved using orthotics as the first line of treatment. Occasionally, surgery may be needed to relieve pain symptoms.
A 5-year-old girl presents to the ED with acute onset of muscle weakness. Her muscle weakness started in her legs yesterday. The weakness became worse today and progressed to the trunk and both arms. She was also complaining difficulty of breathing earlier today. She has been otherwise healthy but had a common cold about 10 days ago. On examination, her respirations are 25/min and shallow. She has profound muscle weakness in her lower extremities, and moderate weakness in her upper extremities. Her deep tendon reflexes are absent. A lumbar puncture is performed, which shows increased protein concentration.
Which of the following is the most likely diagnosis?
Correct Answer C:
The girl in this clinical vignette has classic Guillain-Barré syndrome, also known as acute inflammatory demyelinating polyneuropathy (AIDP). It is an acute illness characterized by rapid demyelination of peripheral nerves. A symmetric ascending weakness progresses rapidly. In this case, the involvement of the respiratory muscles is potentially life threatening. Sensory deficit, involvement of facial musculature, and autonomic insufficiency may occasionally happen. Weakness usually follows a nonspecific viral infection by about 7-14 days.
Lumbar puncture shows elevation of protein concentration in the absence of pleocytosis in the CSF. Diagnosis is made by nerve conduction studies, which will show demyelination. Treatment involves plasmapheresis or gamma-globulin infusion. Respiratory failure must be aggressively managed with adequate respiratory support. Children with this syndrome have a very good prognosis; full recovery is usually the rule. A few may be left with some residual weakness.
A newborn baby is noted to have abnormal facies with low-set ears, a small receding jaw, and widely separated eyes. At 30 hours of age, the baby develops multiple muscle spasms. Serum studies are notable for calcium of 1.1 mmol/L.
This is DiGeorge syndrome, which is a congenital syndrome in which abnormal development of the third and fourth pharyngeal pouches leads to absence or hypoplasia of the thymus and parathyroid glands. The diagnosis is suspected in an infant, often with a malformed face, who develops a difficult-to-manage hypocalcemia, typically at 24 to 48 hours of life.
The diagnosis can be confirmed with chest x-ray, which will fail to show the normal thymic shadow. The infants should also be evaluated for congenital cardiovascular disease, as this may be part of the developmental abnormality. Infants that survive the initial hypocalcemia (requiring extremely careful medical management) become vulnerable to recurrent infections shortly after birth. The defect usually involves T cells (with normal or near normal B cell function), and, in some cases, may resolve spontaneously as the child ages and a small remnant of thymus hypertrophies.
A 40-year-old woman delivers a newborn male. Her pregnancy was normal except that she noted decreased fetal movement compared to her previous pregnancies. She declined an amniocentesis offered by her obstetrician. Physical examination of the newborn reveals an infant with facial features suggestive of Down Syndrome. The infant then has bilious vomiting. An x-ray film showing the kidneys, ureters, and bladder (KUB) is performed, which shows a "double bubble" sign.
Which of the following is the most likely cause of the abdominal signs and symptoms?
Correct Answer A:
The "double bubble" sign is pathognomonic for duodenal atresia, which is a congenital anomaly associated with Down Syndrome. Two large gas collections, one in the stomach and one in the proximal duodenum are the only radiographic lucencies visible in the GI tract. The hallmark of duodenal obstruction is bilious vomiting without abdominal distention. Children with Down Syndrome can also have esophageal atresia, imperforate anus, endocardial cushion defects and hypotonia.
A 9-month-old previously healthy child is brought to the doctor's office because of sudden onset of lethargy, constipation, generalized weakness, and poor feeding. He has been meeting all development milestones and his immunization schedule is up to date. On further questioning, his parents mention that his diet was recently advanced to a homemade formula of evaporated milk and honey. On physical examination, he has stable vital signs, clear lungs, normal skin turgor and full fontanelles.
Which of the following is the most likely explanation for the patient's presentation?
The clue to this patient's condition is the recent of a honey-containing formula. Clostridium botulinum spores that are commonly found in honey germinate in the infant's gastrointestinal tract and produce the characteristic toxin. Infants younger than 1 year of age should not be placed on a diet with honey.
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