What is the most likely diagnosis? | ||||
a Congenital pulmonary airway malformation b Traumatic tension pneumothorax. c Congenital diaphragmatic hernia d Gastric volvulus. |
Figure 2. |
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and thermal homeostasis. 1 |
pathology, no specific investigation or treatment was required other than occasional use of analgesics to manage widespread pain and tenderness.
Jen wonders why, after at least two years of weekly cold water dipping during cooler months, she developed significant symptoms after what was a standard excursion. While the literature mentions potential predisposing causes for cold injury, such as personal morphology, smoking habits, hydration, nutrition and insulation such as clothing and footwear, there is also acknowledgement that these factors have poor predictive value. 12 Additionally, none of these factors had changed in Jen’ s life.
It is postulated that the higher levels of saturated fats in the adipose tissue of infants may predispose to cold injury. 9, 13, 14 Jen has been consuming a low carbohydrate diet with liberal saturated fats from meat, eggs and cheese since 2018. Conceivably, changes in Jen’ s adipose tissue composition over time may have contributed incrementally to the sudden, dramatic appearance of cold injury symptoms. Meanwhile the question of the temporal relationship with the preceding general anaesthetic remains unresolved.
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Deliberate exposure of the body to cold
water results in distinct physiological responses that may be linked to health benefits, such as improved mood, reduced inflammation, upregulation of immune function, and enhanced recovery post-exercise. 2, 3
However, cold exposure can produce a range of injuries to skin and subcutaneous tissues depending on the cold source, degree and duration of exposure, and individual predisposition, with disruption of dermal blood flow playing an important role. 4
Panniculitis is an inflammation of subcutaneous adipose tissue that has many possible causes, including cold exposure, external agents, and systemic diseases. 5
Cold panniculitis is one manifestation of cold injury, recognised since at least 1963. 6 Local vasoconstriction and increased blood viscosity reduce blood flow and oxygen availability to skin and subcutaneous tissues, leading to inflammation and fat necrosis. 7 The histopathology of cold panniculitis shows a predominantly lobular panniculitis. 11
Cold panniculitis is commonly associated with cold exposure in infancy, but is also well described in young female equestrians. 8, 9 Other causes include exposure to ice packs and whole body cryotherapy. 9, 10 The symptoms typically develop within a few days of cold exposure, and are self-limiting with resolution expected in 2-3 weeks. While there is no specific treatment, one case study describes a dramatic response to tetracycline in a woman with recurrent leg panniculitis during winter. 8
In Jen’ s case, the history of cold water exposure was the clue to diagnosis. Apart from excluding serious venous
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Outcome
In keeping with the clinical syndrome of cold panniculitis, Jen’ s symptoms evolved over time, with the rash and tenderness of veins and subcutaneous fat fluctuating before resolution around four weeks post-cold exposure. Jen continues to walk regularly and has since dipped briefly, a couple of times, as the seasons have warmed, with no further incident.
References on request from kate. kelso @ adg. com. au
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ANSWER The answer is c. The X-ray shows an absence of the left diaphragmatic margin and what appears to be stomach and bowel in the left side of his chest, with associated mediastinal shift. A subsequent CT scan confirms the stomach, colon, spleen and pancreas are within the left hemithorax.
In this case, it is thought that the patient had a small, previously asymptomatic diaphragmatic defect. When playing contact sport, the repetitive raised intra-abdominal pressure involved with tacking and scrummaging was thought to have led to intermittent, then progressive, herniation of the abdominal contents through the defect. 1
Congenital diaphragmatic hernia( CDH) typically presents in infancy, often having been recognised on pre-natal ultrasound. Late diagnosis usually presents by 18 months of age, with occasional cases reported of first presentations in adolescence. 1, 2 With late presenting cases, the most common presenting complaint is respiratory distress with vomiting. 1 Those with late presenting CDH are more likely to have left-sided defects, and have a lower rate of associated congenital anomalies than their counterparts with disease diagnosed in infancy.
The presence of a large air-filled space in the hemithorax, in a child playing contact sport, may raise suspicion of pneumothorax. In this case the symptomatology, plus the lack of visible diaphragm and presence of bowel markings in the thorax support CDH.
Congenital pulmonary airway malformation appears as multicystic lesions on chest X-ray. These can be large and associated with mediastinal shift, but also with an intact diaphragm and normal abdominal compartment.
In gastric volvulus, a large, intrathoracic stomach is evident on X-ray, but the presence of colonic markings in this case points to the presence of CDH. 1
Hendrix undergoes an uncomplicated thoracoscopic diaphragmatic repair and returns to playing rugby without incident the next season.
Dr Kate Kelso is a GP and medical editor at Australian Doctor. References on request from kate. kelso @ adg. com. au
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