Egg-on-stick appearance in neglected Hirschsprung’s disease: Extending the spectrum of a classic clinical sign
Sir, The visual language of medicine has long relied on descriptive terms that link appearance with pathology. One such term, the “egg-on-stick” appearance, refers to a body habitus with marked abdominal distension disproportionate to thin limbs and an absence or paucity of pedal edema.[1] The metaphor evokes an image of central distension coexisting with peripheral wasting. The appearance is commonly described in cardiac, hepatic, and endocrine disorders, yet it has not been reported in intestinal obstruction. We recently encountered a 13-year-old boy with long-standing Hirschsprung’s disease (HD) whose presentation exemplified this description. He was initially referred to the cardiology clinic because of his appearance before being redirected to the surgical service. His case prompts a reconsideration of the broader relevance of this clinical sign. The patient had progressive abdominal swelling, constipation since infancy, and poor weight gain. He appeared chronically ill and undernourished, with a tense protuberant abdomen, visible bowel loops, and wasted limbs but no pedal edema [Figure 1].Figure 1: Preoperative photographs showing the egg-on-stick appearance in a 13-year-old boy with long-standing Hirschsprung’s disease, showing marked abdominal distension with wasted limbs. (a) Frontal view, (b) Lateral viewPlain abdominal radiography showed colonic dilatation consistent with large-bowel obstruction. At laparotomy, we found markedly dilated, hypertrophied colonic loops with engorged mesenteric vessels and a funnel-shaped transition zone in the rectosigmoid region [Figure 2].Figure 2: Intraoperative photograph showing rectosigmoid Hirschsprung’s disease with a markedly dilated, hypertrophied proximal colon and a funnel-shaped transition zoneColonic biopsy confirmed aganglionosis. Staged surgical management was undertaken, beginning with a leveling colostomy followed by a Soave–Boley pull-through 6 months later. This case was notable for the late age of diagnosis and the configuration of a massively distended abdomen atop a wasted frame. To the best of our knowledge, this appearance has not been previously described in HD. The term “egg-on-stick” appears sporadically in medical literature as a descriptive expression rather than a formal clinical sign. It is most often used in cardiology and tropical medicine, particularly with endomyocardial fibrosis (EMF), where the appearance is regarded as characteristic.[2,3] Similar descriptions are reported in constrictive pericarditis, right atrial myxoma, and, more recently, Ebstein’s anomaly by Umar et al.[1] In these conditions, disproportionate ascites and cachexia produce the distinctive shape. Outside cardiology, this appearance has also been observed in endocrine disorders. Lakhani and Lakhani drew parallels between the “Humpty-Dumpty” character and Cushing’s syndrome, describing central obesity with “stick-like” limbs as illustrative of the condition.[4] Similarly, large intra-abdominal tumors may produce this shape, when fluid accumulation or tumor bulk enlarges the abdomen while chronic illness causes peripheral wasting. Nwali et al. described a woman with a giant ovarian cyst whose cachexia and abdominal distension created the “egg-on-stick” appearance.[5] Our patient demonstrates a different mechanism producing the same visual impression. Chronic intestinal obstruction led to long-term retention of fecal material and gas, hypertrophying the proximal colon and stretching the abdominal wall. Prolonged undernutrition from poor intake, poor absorption, and recurrent illness caused wasting of subcutaneous tissue and muscle. Although the pathophysiology differs from that of EMF, cirrhosis, or abdominal tumor, the external appearance is similar. This case broadens the differential diagnosis of the “egg-on-stick” appearance. In the absence of edema or hepatomegaly, such a habitus should not be attributed solely to cardiac disease. In resource-limited settings, it may also signify a neglected functional intestinal obstruction. Recognizing it can therefore have both diagnostic and public health implications, highlighting the consequences of delayed diagnosis in congenital conditions. In conclusion, the “egg-on-stick” appearance remains a useful description linking observation to underlying pathology. Traditionally associated with cardiac diseases, endocrine disorders, and intra-abdominal masses, it may also occur in chronic intestinal obstruction such as long-standing HD. Awareness of this possibility can broaden diagnostic thinking when evaluating patients with abdominal distension and wasting, particularly in low-resource environments. Ethical compliance In accordance with the Helsinki Declaration, consent was obtained for anonymized publication. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given her consent for her images and other clinical information to be reported in the journal. The guardian understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Institutions
- University of Uyo (NG)
- University of Uyo Teaching Hospital (NG)
Publication Details
- Journal
- Journal of Clinical Sciences
- Published
- 2025-10-01
- DOI
- https://doi.org/10.4103/jcls.jcls_187_25
- Primary Topic
- Congenital gastrointestinal and neural anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00