A newborn baby girl is born following a pregnancy complicated by oligohydramnios with bilateral talipes and requires ventilation for pulmonary hyposplasia. She fails to pass urine in the first 24 hours of life. Which of the following is likely to be the cause?
- Nephrotic syndrome
- Posterior urethral valves
- Bilateral renal agenesis
- Autosomal dominant polycystic kidney disease
- Duplex kidney
Bilateral renal agenesis. This causes Potter syndrome which is incompatible with life. The oligohydramnios is due to a lack of fetal urine and causes the pulmonary hypoplasia.
An 18-month-old exclusively breast fed infant has not started standing or walking yet. On examination she has swelling of her wrists and an open fontanelle. She has yet to erupt any teeth. Which of the following is the most likely cause?
- Vitamin A deficiency
- Vitamin B deficiency
- Vitamin C deficiency
- Vitamin D deficiency
- Vitamin E deficiency
Vitamin D deficiency. Vitamin D is an increasingly recognized problem and can lead to rickets, as in this case. The signs of rickets are altered mineralization of the bones resulting in swelling of the wrists, delayed dentition and closure of the fontanelle. Vitamin D replacement is the treatment of choice and supplementation should be offered to breast feeding mothers.
A 15-year-old girl attends clinic concerned about her episodic abdominal pain and loose stool over the last year. She dates it back to when she changed schools and says it occurs more often on school days. She describes crampy abdominal pain followed by the need to pass a stool which happens about twice a month. Her bowel habit is normal on the other days. There has never been any blood and she has not lost any weight. Which of the following is most likely to be the underlying cause of her symptoms?
- Cow’s milk protein intolerance
- Coeliac disease
- Ulcerative colitis
- Irritable bowel syndrome
- Overflow diarrhoea secondary to constipation
Irritable bowel syndrome. Irritable bowel syndrome can causes symptoms in response to stressful situations. The fact that she gets pain and diarrhoea infrequently, and most often on school days, makes a more serious diagnosis unlikely. In addition she is growing well which is reassuring.
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