|
|
第57卷 第2期 2024-3
Necrotizing fasciitis resulted from foreign body ingestion and intestinal perforation in an incisional hernia: Report of a case |
| ......................... |
|
第57卷 第2期 2024-3
Application of artificial intelligence in endodontic microsurgery |
| ......................... |
|
第57卷 第2期 2024-3
A rare case of cerebral metastasis of malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1 |
| ......................... |
|
第57卷 第2期 2024-3
Ethic in commenting and clinical surgery journal publication: Emerging issue in the era of social media—A story from “Beall” to “Jaime” and independent researcher |
| ......................... |
|
第57卷 第2期 2024-3
Ophidascaris robertsi, the new emerging human parasite and neurosurgery |
| ......................... |
|
第57卷 第2期 2024-3
Tetanus toxoid IgG, usefulness in clinical surgery, and diagnostic property limitation |
| ......................... |
|
第57卷 第2期 2024-3
Deaths among surgeons while on duty: An important issue in surgery and occupational medicine that should not be disregarded |
| ......................... |
|
第57卷 第2期 2024-3
ChatGPT and its use in clinical surgery: A comment on its pro and con |
| ......................... |
|
第57卷 第2期 2024-3
Isolated spinal neurocysticercosis and pseudotumor cerebri: Tropical problem to be noted |
| ......................... |
|
第57卷 第2期 2024-3
Management of massive hemothorax resulting from traumatic diaphragm rupture with kidney avulsion injury by combined anterior thoracoabdominal approaches |
| ......................... |
|
第57卷 第2期 2024-3
Laparoscopic partial splenectomy for sclerosing angiomatoid nodular transformation: A case report and literature review |
| ......................... |
|
第57卷 第2期 2024-3
Using three-dimensional versus two-dimensional laparoscopy in sleeve gastrectomy: A case matched comparison |
| ......................... |
|
第57卷 第2期 2024-3
Effectiveness of placing prophylactic mesh with the Sugarbaker technique via laparoscopic abdominoperineal resection for rectal cancer: 1-year results |
| ......................... |
|
第57卷 第2期 2024-3
Nylon cable ties–assisted delay primary closure of fasciotomy wound in patients of forearm compartment syndrome |
| ......................... |
|
第57卷 第2期 2024-3
Prefabricated venous fl ap, an advanced free venous fl ap for distant transfer: An experimental rat study |
| ......................... |
|
第57卷 第1期 2024-1
Isolated lower leg monoplegia due to traumatic intraparenchymal hemorrhage |
| ......................... |
|
第57卷 第1期 2024-1
Reflections on the association between cholecystectomy, cholelithiasis, and colorectal cancer |
| ......................... |
|
第57卷 第1期 2024-1
Molluscum contagiosum, false positive, and incidence: Concern in surgery |
| ......................... |
|
第57卷 第1期 2024-1
New form of COVID-19 vaccine: A new advanced technology for fighting the remained problem |
| ......................... |
|
第57卷 第1期 2024-1
COVID-19 vaccination, acute appendicitis, interrelationship, and jointed probability: A concern |
| ......................... |
|
 |
| 篇名 |
Shah‑Waardenburg syndrome |
| 作者 |
Rahul Gupta, Dinesh Kumar Barolia, Ramesh Tanger, Lila Dhar Agrawal, Arun Kumar Gupta, Ram Babu Goyal |
| 卷期/出版年月 |
50卷5期 (2017/10) |
| 頁次 |
163-168 |
| 摘要 |
Introduction: Shah‑Waardenburg syndrome (SWS) is WS associated with Hirschsprung’s disease. It is very rare with <80 cases reported in the literature.
Aim: The aim of this study was to describe our experience with SWS.
Methods: The records of patients admitted to our tertiary care pediatric surgical institute between 2011 and 2015 were retrospectively reviewed. All patients with histopathological diagnosis of Hirschsprung’s disease
were studied. SWS was identified as per the diagnostic criteria proposed by the Waardenburg consortium.
Results: There were 202 patients diagnosed with Hirschsprung’s disease during 5 years. We identified three male patients fulfilling the diagnostic criteria for WS (white forelock with the involvement of eyebrows and
eyelashes, pigmentary disturbances of the iris, and broad high nasal root). All presented in the neonatal period with clinical and radiological features of small bowel obstruction. Family history (sibling) of SWS was seen in one of the neonates. Exploration revealed distended jejunal and ileal loops in all of them; colon contracted and unused (microcolon). Multiple seromuscular biopsies were performed from colon in all 3 neonates. Initial ileostomy was performed in case 2 and case 3. In case 1, the right transverse
colostomy was done primarily as total colonic aganglionosis (TCA) was not expected (absence of transition zone in the early neonatal period) and also frozen section facilities were not available. It was followed by
ileostomy (second surgery) about 15 cm proximal to the ileocecal junction as colostomy was not functioning adequately. The histopathology of gut biopsies revealed aganglionosis in the entire colon, confirming the diagnosis of TCA in all the cases. Out of three patients in our study, two neonates died in the postoperative period, while third case succumbed due to severe episodes of ileostomy diarrhea.
Conclusion: A patient of WS presenting with neonatal intestinal obstruction or constipation since birth should be evaluated on the lines of SWS . Patients with SWS have a higher incidence of TCA or long‑segment
Hirschsprung’s disease. In SWS when transition zone is not clear, an ileostomy would be preferable in view of nonavailability of frozen section. |
| 關鍵詞 |
Blue eyes, broad high nasal root, Hirschsprung’s disease, Shah‑Waardenburg syndrome, total colonic aganglionosis, white forelock |
| 分類 |
Original article |
|
