
==== Front
BMJ Case Rep
BMJ Case Rep
bmjcr
bcr
BMJ Case Reports
1757-790X
BMJ Publishing Group BMA House, Tavistock Square, London, WC1H 9JR

39179268
10.1136/bcr-2024-260442
bcr-2024-260442
Case Report
Gastroenterology
Paediatric diffuse oesophageal leiomyomatosis with Alport syndrome
http://orcid.org/0000-0001-9766-8936
Thanachatchairattana Pornsri 1jiabsi@yahoo.com

Losty Paul 2paul.losty@liverpool.ac.uk

1 Surgery, Mahidol University Faculty of Medicine Ramathibodi Hospital, Bangkok, Thailand
2 Department of Paediatric Surgery, Institute Of Systems Molecular and Integrative Biology, University of Liverpool, Liverpool, UK
None declared.

Dr; jiabsi@yahoo.com
2024
22 8 2024
22 8 2024
17 8 e26044227 7 2024
Copyright © BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
2024
https://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

Summary

Diffuse oesophageal leiomyomatosis is a rare benign disease in the paediatric population. This report highlights a recent clinical case, together with a narrative review of current world literature.

An early middle childhood girl with recurrent lower respiratory tract infections for 2 years was noted to have a retrocardiac lesion on chest X-ray, later confirmed to be an oesophageal mass on CT imaging. She underwent an Ivor-Lewis oesophagogastrectomy and a Heineke-Mikulicz pyloroplasty. Pathology examination revealed type I diffuse oesophageal leiomyomatosis. Alport syndrome was later confirmed following an episode of postoperative haematuria, which was corroborated by electron microscopy examination following renal biopsy.

With an oesophageal mass lesion and Alport syndrome, oesophageal leiomyomatosis should be suspected in any patient with a clinical history of dysphagia and/or respiratory symptoms. Endoscopic ultrasound-guided tissue biopsy is valuable for diagnosis of all suspected lesions. Surgical resection is mandatory to effect cure.

Oesophagus
Pathology
Radiology
Gastrointestinal surgery
Hematuria
==== Body
pmcBackground

Diffuse oesophageal leiomyomatosis (DEL) is an extremely rare disease in the paediatric age group, with a scarcity of consensus or best practice guidelines. In 1975, Fernandes classified DEL into two distinct types1—(1) a diffuse thickening of the oesophageal musculature and (2) confluent myomatous nodules involving the muscles of the oesophagus.2 3 Several early reports also refer to diffuse fibromyoma,4 5 oesophageal hypertrophic stenosis6 and/or oesophageal leiomyoma with pathological descriptions akin to Fernandes type 2 lesion(s).1 7 8 Autopsy diagnosis is also prevalent.3 5 6 9

In 1983, Torres and Guarner suggested an association with Alport syndrome (DEL-AS), while other authors reported that leiomyomatosis could involve other organ systems, notably the tracheobronchial tree, genitourinary/gastrointestinal tract and anorectal musculature.15 913 Findings from imaging studies often reveal prominent oesophageal thickening in the distal oesophagus, extending for some distance to also involve the oesophagogastric junction creating a longer stenosis than that typically seen with achalasia.5 14 15 Endoscopic ultrasound (EUS)-guided biopsy can greatly aid diagnosis by accessing pathological muscular lesions.1517 Anecdotal therapies have included periodic oesophageal dilatation(s)6 and oesophageal myotomy/myectomy.2 5 Current interventions include both oesophageal resection and oesophageal substitution or replacement surgery.

Case presentation

An early middle childhood girl with four previous episodes of bronchitis and pneumonia in the last 2 years presented to hospital with a fifth attack of bronchitis. A chest X-ray (CXR) film showed an incidental finding of a retrocardiac mass (figure 1A). CT coronal imaging later revealed long-segment oesophageal thickening (figure 1B). Patient history showed progressively poor feeding and earlier hospital admissions included haematuria—first experienced in her early childhood without further detailed investigations. Her body weight was 15.35 kg (body mass index 12.77). Serum blood nitrogen urea and creatinine were 15 and 0.38 mg/dL, respectively.

Figure 1 (A): Chest X-ray taken at the fourth episode of bronchitis incidentally detected a retrocardiac mass lesion prominent in right-side hemithorax. (B): CT imaging confirmed oesophageal origin extending to the gastro-oesophageal junction. (C): Oesophagogram demonstrated a longer oesophagogastric junction length than that seen typically with achalasia. (D): Oesophagoscopy revealed a yellowish submucosal mass. (E): Submucosal single-incision knife biopsy revealed the histopathological reporting of normal muscular features (endoscopy photos, courtesy of Associate Professor Chonlada Krutsri, MD, FRCST). (F): Subsequent endoscopic ultrasound (EUS) with biopsy reported the same findings, which were interpreted as a muscular mass lesion with confidence in visualisation of the accurate biopsy site (EUS photos, courtesy of Assistant Professor Taya Kitiyakara, MD, MBBS).

Oesophagography (figure 1C), oesophagogastroscopy with a submucosal single-incision knife biopsy and EUS-guided biopsy (figure 1D–F) were performed, respectively. The biopsy specimens failed to yield an adequate full pathological diagnosis between normal and hypertrophic smooth muscle(s). Ivor-Lewis oesophagogastrectomy (with gastric pull-up) (figure 2A) and a Heineke-Mikulicz pyloroplasty were thereafter performed with a routine follow-up postoperative contrast study (figure 2B). The surgical resected specimen confirmed Fernandes type 1 leiomyomatosis (figure 2C,D).

Figure 2 (A): Right thoracotomy view—the stomach and oesophagus were mobilised and the diffuse thickening of the oesophagus was seen with transverse grooves on the proximal segment (blue arrow); esophagogastric junction was at the surgeon’s grip area. The line of surgical resection was demarcated by the limits of the palpable mass and the azygos vein. (B): Eighth postoperative day—the replacement graft—normal contrast study showing ‘no leak’ and graft substitute reflux. (C): Gross pathology—a 12 cm long and 4 cm maximal circumference lesion showing diffuse muscular wall thickening measuring 0.8–2.5 cm with prominent thickening of the inner circular muscle wall in longitudinal cut sections. (D): Histopathological staining (H&E stain—2000 micron sections; black rectangle—notable findings seen are the prominent circular muscle layers with relative thinning of the longitudinal layer and muscularis mucosae. The section of EGJ junction and the distal end of the oesophagus had pathology findings compatible with diffuse oesophageal leiomyomatosis (Gross and histopathology photos, courtesy of Pathology Department – Bantita Phruttinarakorn, MD).

On the third postoperative day, the patient developed haematuria, raising the clinical suspicion of Alport syndrome. Normal orbital and auditory examinations were confirmed but the child’s parents refused full medical genetics testing. Subsequent renal biopsy with histopathology and electron microscopy studies showed the hallmark features, notably thin focal thickness membranes with areas of duplication and diffuse foot process effacement of podocytes—characteristics of Alport syndrome. Screening the first-degree relatives and a number of second-degree relatives revealed that they had normal CXR films and urinalyses. Family pedigree revealed that no other family member was affected in three generations with the typical features of Alport syndrome.

Outcome and follow-up

At 2 months postoperatively, the patient experienced some eating and swallowing difficulty. An oesophagogram study showed a narrowed anastomosis and gastro-oesophageal reflux. A mild stricture was easily dilated with balloon dilatation. A CT scan at 1-year follow-up showed non-progressive thickening of residual oesophagus. At a follow-up period of 2 years with 2 kg body weight gain, the patient experienced a recurrent stricture due to reflux inflammation of the substitution graft anastomosis even under full doses of proton-pump inhibitors. Four oesophageal balloon dilations with ongoing periodic dysphagia later led to undertaking endoscopic stricturotomy, with normal eating restored now for over 1 year.

Discussion

From our narrative review of the available literature, notably including abstracts or full articles published from 1916 to December 2022 under the search terms “esophag*, leiomyomatosis, muscular hypertrophy, human” on PubMed and Google search engines, we sought to study all paediatric patients who had symptoms before 18 years of age. This amounted to some 67 index cases with our case being the 68th.

For statistical analysis, we used Stata 14.1 software: (1) categorical data using Fisher’s exact test and χ2 test, (2) continuous data using Wilcoxon Mann–Whitney test and Student’s t-test and (3) nominal variables comparison using Cramér’s V correlation.

The first firm diagnosis of oesophageal leiomyomatosis was established in 1975. Putative links with Alport syndrome (DEL-AS) were later reported in 1983 (figure 3). Before these reports, patients were often wrongly misdiagnosed as having oesophageal achalasia. Index diagnoses of oesophageal leiomyomatosis were also later revealed in detailed postmortem examination(s) (table 1). Incidentally detected oesophageal mass lesions are frequently recorded.

Figure 3 Number of patients reported in each year from the first available report in 1916 highlighted along with the year defining the disease classification (1975) and the year of the first proposed linked associations with Alport syndrome (1983) (Created by Suraida Aeesoa, MSc).

Table 1 Cumulative patient data—year < 1975 versus Year > 1975

Variable(s)	Total(n=68)	Year ≤1975(n=10)	Year > 1975(n=58)	P value	
Age at reporting DEL (year)—mean±SD	11.4±6.7	12.7±6.1	11.2±6.9	0.527	
Gender, n (%)	 	 	 	 	
 Male	20 (29.4)	1 (10.0)	19 (32.8)	0.145	
 Female	48 (70.6)	9 (90.0)	39 (67.2)	 	
Incidental finding/autopsy, n (%), n=60	 	 	 	 	
 No	44 (73.3)	4 (50.0)	40 (76.9)	0.192	
 Yes	16 (26.7)	4 (50.0)	12 (23.1)	 	
Symptoms, n (%)	 	 	 	 	
 Respiratory tract symptoms	28 (41.2)	3 (30.0)	25 (43.1)	0.507	
 GI tract symptoms	50 (73.5)	7 (70.0)	43 (74.1)	0.717	
 Systemic symptoms	15 (22.1)	3 (30.0)	12 (20.7)	0.680	
 Asymptomatic	4 (5.9)	1 (10.0)	3 (5.2)	0.479	
Onset of dysphagia (age in years), mean±SD, n=38	7.8±4.6	10.1±8.2	7.4±3.9	0.519	
Time from first dysphagia to DEL-Dx (year), median (range), n=38	3 (0, 27)	3 (0.6, 5)	3 (0, 27)	0.634	
Timing of follow-up (year), median (range), n=53	2 (0, 21)	0.5 (0, 2.5)	2.4 (0.3, 21)	0.001	
Death, n (%)	 	 	 	 	
 Alive	62 (91.2)	4 (40.0)	58(100)	0.000	
 Dead	6 (8.8)	6 (60.0)	0	 	
Patients with Alport syndrome, n (%)	 	 	 	 	
 No	22 (32.4)	7 (70.0)	15 (25.9)	0.000	
 Yes	5 (7.4)	0	5 (8.6)	 	
 Confirm (with criteria/gene/biopsy)	35 (51.4)	0	35 (60.3)	 	
 No study information	6 (8.8)	3 (30.0)	3 (5.2)	 	
Familial Alport syndrome, n (%)	 	 	 	 	
 No familial Hx	22 (32.3)	2 (20.0)	20 (34.5)	0.047	
 Familial Hx	15 (22.1)	0	15 (25.8)	 	
 No study information	31 (45.6)	8 (80.0)	23 (39.7)	 	
Familial DEL, n (%)	 	 	 	 	
 No familial Hx	19 (27.9)	4 (40.0)	15 (25.9)	0.173	
 Familial Hx	24 (35.3)	1 (10.0)	23 (39.6)	 	
 No study information	25 (36.8)	5 (50.0)	20 (34.5)	 	
Another organ system leiomyoma, n (%)	 	 	 	 	
 No	50 (73.5)	7 (70.0)	43 (74.1)	0.717	
 Tracheo-bronchial involvement	1 (1.5)	0	1 (1.7)	0.999	
 Other parts of intestinal tract	3 (4.4)	2 (20.0)	1 (1.7)	0.054	
 Rectoanal	8 (11.8)	0	8 (13.8)	0.593	
 Urinary tract	2 (2.9)	0	2 (3.5)	0.999	
 Genital tract	8 (11.7)	1 (10.0)	7 (12.7)	0.999	
Dx of leiomyoma in other organs compared with DEL-Dx, n (%), n=18	 	 	 	 	
 Before	2 (11.1)	0	2 (13.3)	 	
 Same time	9 (50.0)	3 (100)	6 (40.1)	0.449	
 After	5 (27.8)	0	5 (33.3)	 	
 No study information	2 (11.1)	0	2 (13.3)	 	
Information: Alport syndrome confirmed by testing: persistent haematuria + at least one of four (1. genetic study, 2. electron microscopic/microscopic examination on renal biopsy or skin biopsy, 3. positive family history of Alport syndrome and 4. characteristic phenotype clinical features: cataract and deafness). Alport syndrome noted by mention (yes): documented in the original published articles. Other parts of intestinal tract: refers to part(s) of the gastrointestinal tract elsewhere involved beyond the oesophagus and gastric cardia.

DELdiffuse oesophageal leiomyomatosisDEL-Dxtime at making diagnosis of DELDxdiagnosisHxhistory

Symptoms are mainly related to dysphagia or gastro-oesophageal reflux disease. The data after 1975, mean age at onset of dysphagia is typically recorded as 7.4±3.9 years. Although not previously reported in a systematic review study, a higher incidence of DEL is seemingly apparent in females (2:1) and DEL-AS in males.18 Leiomyoma(s) in other organs may include the anorectal region, genital tract, urogenital system, tracheobronchial tree and other parts of the intestinal tract; they mostly discovered at or sometimes after the primary diagnosis of DEL and were usually recorded as presenting later in adulthood years.11 12 (table 2). The familial history of esophageal leiomyomatosis or Alport, patient’s Alport, and occurences of other organs leiomyoma(s) correlate not all significant; genetic related studies elicited familial DEL and Alport (table 3).

Table 2 Male versus female (study year > 1975 to present time period)

Variable	Total(n=58)	Male(n=19)	Female(n=39)	P value	
Age at reporting DEL (year), mean±SD	11.2±6.9	9.6±4.5	11.9±7.7	0.146	
Onset of dysphagia (age in year), mean±SD, n=33	7.4±3.9	8.7±4.2	6.7±3.6	0.151	
Time from first dysphagia to DEL-Dx (year), median (range), n=33	3 (0, 27)	2 (0, 6)	7 (0, 27)	0.015	
Patient’s Alport syndrome, n (%)	 	 	 	 	
 No	15 (25.9)	1 (5.3)	14 (35.9)	0.016	
 Yes	5 (8.6)	2 (10.5)	3 (7.7)	 	
 Confirm (by criteria/gene/biopsy)	35 (60.3)	16 (84.2)	19 (48.7)	 	
 No mention in study	3 (5.2)	0	3 (7.7)	 	
Familial Alport syndrome, n (%)	 	 	 	 	
 No familial Hx	20 (34.5)	8 (42.1)	12 (30.8)	0.350	
 Familial Hx	15 (25.8)	6 (31.6)	9 (23.1)	 	
 No mention in study	23 (39.7)	5 (26.3)	18 (46.1)	 	
Familial DEL, n (%)	 	 	 	 	
 No familial Hx	15 (25.8)	6 (31.6)	9 (23.1)	0.323	
 Familial Hx	23 (39.7)	9 (47.4)	14 (35.9)	 	
 No mention in study	20 (34.5)	4 (21.0)	16 (41.0)	 	
Leiomyoma in another organ system, n (%)	 	 	 	 	
 No	43 (74.1)	17 (89.5)	26 (66.7)	0.108	
 Tracheo-bronchial involvement	1 (1.7)	0	1 (2.6)	0.999	
 Other parts of intestinal tract	1 (1.7)	1 (5.3)	0	0.328	
 Rectoanal	8 (13.8)	1 (5.3)	7 (17.9)	0.252	
 Urinary tract	2 (3.5)	0	2 (5.1)	0.999	
 Genital tract	7 (12.1)	0	7 (17.9)	0.083	
Dx of leiomyoma(s) in other organs compared with DEL-Dx, n (%), n=15	 	 	 	 	
 Before	2 (13.3)	0	2 (15.4)	 	
 Same time	6 (40.0)	1 (50.0)	5 (38.4)	0.999	
 After	5 (33.4)	1 (50.0)	4 (30.8)	 	
 No mention in study	2 (13.3)	0	2 (15.4)	 	
Information: Alport syndrome confirmed by testing: persistent haematuria + at least one of four (1. genetic study, 2. electron microscopic/microscopic examination on renal biopsy or skin biopsy, 3. positive familial history of Alport syndrome and 4. characteristic clinical phenotype: cataract and deafness). Alport syndrome noted in article (yes): documented in the original published articles. Parts of intestinal tract: part of the gastrointestinal tract system involved elsewhere beyond the oesophagus and gastric cardia.

DELdiffuse oesophageal leiomyomatosisDEL-Dxtime at diagnosis of DELDxdiagnosis

Table 3 Correlation with associated disease(s) (published studies year 1975 to present time period)

Variable	Leiomyoma(s) in other organs	Familial DEL	Familial Alport	Patients Alport	Incidental finding/autopsy	
Leiomyoma(s) in other organs	1	0.297(0.595)	0.321(0.447)	0.279(0.759)	0.342(0.413)	
Familial DEL	–	1	0.715(0.000)	0.402(0.005)	0.284(0.122)	
Familial Alport	–	–	1	0.398(0.005)	0.353(0.039)	
Patients Alport	–	–	–	1	0.337(0.115)	
Incidental finding/autopsy	–	–	–	–	1	
DELdiffuse oesophageal leiomyomatosis/oesophageal muscular hypertrophy

Table 4 lists pathological sites typically involved in patients. These are predominantly in the oesophagus (93%), that is, isolated distal oesophagus (41%), mid-to-distal oesophagus (13%), whole oesophagus (32 %) and the oesophagogastric junction (56%). Surgical management options include oesophageal resection or a total oesophagectomy. Conservative management has been considered in a minority of cases including oesophageal myotomy/myectomy, which has had limited success. After-care patient follow-up has shown variable practice management (table 1). Median follow-up (range) in published studies has been defined as 2.4 years (0.3–21 years). No reports of carcinomatous change have been documented in the residual native oesophagus at the time of writing this report.

Table 4 Pathology and detailed patient management (study year < 1975 vs year > 1975)

Variable	Total(n=68)	Year≤1975(n=10)	Year>1975(n=58)	P value	
Involve organ site n (%)	 	 	 	 	
 Upper oesophagus	1 (1.5)	0	1 (1.7)	0.999	
 Mid-oesophagus	1 (1.5)	0	1 (1.7)	0.999	
 Distal oesophagus	28 (41.2)	6 (60.0)	22 (37.9)	0.297	
 Mid-to-distal oesophagus	9 (13.2)	1 (10.0)	8 (13.8)	0.999	
 Entire oesophagus	22 (32.4)	3 (30.0)	19 (32.8)	0.999	
  Unspecified oesophageal length  Included upper stomach	2 (2.9)38 (55.9)	08 (80.0)	2 (3.5)30 (51.7)	0.9990.167	
Oesophageal wall max thickness (cm), mean±SD, n=17	2.4+1.2	2.2+1.6	2.5+1.2	0.658	
Pre-op biopsy (exclude mucosal bx), n (%)	 	 	 	 	
 Not done	62 (91.2)	10(100)	52 (89.7)	0.999	
 Done (non-diagnostic)	2 (2.9)	0	2 (3.4)	 	
 Done (diagnostic)	4 (5.9)	0	4 (6.9)	 	
Final pathological type (pathological exam/EUS), n (%)	 	 	 	 	
 No mention in studies	28 (41.2)	4 (40.0)	24 (41.4)	0.999	
 Muscular hypertrophy	24 (35.3)	4 (40.0)	20 (34.5)	 	
 Multiple or confluent leiomyoma (diffuse leiomyomatosis)	11 (16.2)	1 (10.0)	10 (17.2)	 	
 Mixed type	5 (7.3)	1 (10.0)	4 (6.9)	 	
Strategy of treatment after known DEL, n (%)	 	 	 	 	
 Surgical treatment	54 (79.4)	6 (60.0)	48 (82.8)	0.162	
 Conservative (no surgery)	12 (17.7)	4 (40.0)	8 (13.8)	 	
 No mentioned choice of treatment in published studies	2 (2.9)	0	2 (3.4)	 	
Number of lifetime operations, n (%), n=66	 	 	 	 	
 0	10 (15.2)	4 (40.0)	6 (10.7)	0.089	
 1	46 (69.7)	6 (60.0)	40 (71.4)	 	
 2	8 (12.1)	0	8 (14.3)	 	
 3	2 (3.0)	0	2 (3.6)	 	
Type of oesophagectomy, n (%)	 	 	 	 	
 Initial operation, n=56	 	 	 	 	
 Partial	4 (7.1)	0	4 (8.0)	0.243	
 Total	9 (16.1)	0	9 (18.0)	 	
 Oesophagogastrectomy	25 (44.6)	6 (100)	19 (38.0)	 	
 Unspecified length	6 (10.7)	0	6 (12.0)	 	
 Myotomy/myectomy	11 (19.7)	0	11 (22.0)	 	
 Enucleation	1 (1.8)	0	1 (2.0)	 	
 Sequential operation, n=8	 	 	 	 	
 Partial	1 (12.5)	–	1 (12.5)	–	
 Total	4 (50.0)	–	4 (50.0)	 	
 Oesophagogastrectomy	3 (37.5)	–	3 (37.5)	 	
Cause(s) of reoperation, n (%), n=10	 	 	 	 	
 Staged operation	1 (10.0)	–	1 (10.0)	–	
 Early postoperative complications	2 (20.0)	–	2 (20.0)	 	
 Symptoms persist	1 (10.0)	–	1 (10.0)	 	
 Incomplete resection	3 (30.0)	–	3 (30.0)	 	
 Cause new problems	3 (30.0)	–	3 (30.0)	 	
Oesophageal replacement – n (%), n=59	 	 	 	 	
 Not done	16 (27.1)	4 (40.0)	12 (24.5)	0.310	
 Gastric transposition	21 (35.6)	4 (40.0)	17 (34.7)	 	
 Gastric tube	9 (15.3)	0	9 (18.4)	 	
 Colon interposition graft	10 (16.9)	1 (10.0)	9 (18.4)	 	
 Jejunum graft	1 (1.7)	1 (10.0)	0	 	
 Gastric pull-up then gastric tube	1 (1.7)	0	1 (2.0)	 	
 Colon then gastric tube	1 (1.7)	0	1 (2.0)	 	
Information: Preop. biopsy: diagnostic = biopsy showed the hallmark diagnostic features of muscular tumour; non-diagnostic = biopsy showed hypertrophic or native muscular mass. Mixed type: pathological report defined in combination Fernandes type 1 and 2

DELdiffuse oesophageal leiomyomatosisEUSEndoscopic ultrasoundPreop. biopsypreoperative biopsy

EUS is a valuable investigative diagnostic tool for defining the primary site of origin of an oesophageal mass lesion and may permit targeted guided biopsy. Oesophageal lesions usually involve the middle oesophagus to the oesophagogastric junction,5 whereas a proximal oesophageal location may be revealed on manometry study and contrast swallow imaging may reveal disorders of peristalsis with a notably thickened proximal oesophagus.15 19 20

Conclusions

It is strongly advised that all paediatric patients with a new diagnosis of an oesophageal mass lesion should be screened for Alport syndrome with or without a family history. EUS-guided tissue biopsy is valuable for diagnosis of all suspected lesions. Surgical resection is mandatory for cure. Finally, a surveillance after-care program is advisable to effectively monitor and detect new leiomyoma(s) in other organ systems in index patients, especially in those with familial history of Alport syndrome.

Learning points

Distal oesophageal obstruction with atypical features of oesophageal achalasia in paediatric patients should raise suspicion of oesophageal leiomyomatosis, particularly in those with a history of haematuria or with familial history of Alport syndrome or leiomyomatosis elsewhere.

Surgical resection that may involve oesophageal replacement graft substitution is required to effect cure.

A surveillance after-care program is advisable to effectively monitor and detect new leiomyoma(s) in other organ systems in index patients, especially in those with familial history of Alport syndrome.

Acknowledgements

Assistant Professor Taya Kitiyakara, MD, MBBS. Division of Gastroenterology and Hepatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Associate Professor Chonlada Krutsri, MD, FRCST, Division of Trauma, Acute Care Surgery, and Surgical Critical Care, Department of Surgery, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Bantita Phruttinarakorn, MD, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Funding: The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

Provenance and peer review: Not commissioned; externally peer reviewed.

Patient consent for publication: Consent obtained from parent(s)/guardian(s).
==== Refs
References

1 Fernandes JP Mascarenhas MJ Costa CD et al Diffuse leiomyomatosis of the esophagus: a case report and review of the literature Am J Dig Dis 1975 20 684 90 10.1007/BF01071177 1146792
2 Legius E Proesmans W Van Damme B et al Muscular hypertrophy of the oesophagus and 'alport-like' glomerular lesions in a boy Eur J Pediatr 1990 149 623 7 10.1007/BF02034748 2373112
3 Blank E Michael TD Muscular hypertrophy of the esophagus: report of a case with involvement of the entire esophagus Pediatrics 1963 32 595 8 14069101 14069101
4 Hall AJ A case of diffuse fibromyoma of the oesophagus, causing dysphagia and death QJ Med 1916 os-9 409 28 10.1093/qjmed/os-9.36.409
5 Federici S Ceccarelli PL Bernardi F et al Esophageal leiomyomatosis in children: report of a case and review of the literature Eur J Pediatr Surg 1998 8 358 63 10.1055/s-2008-1071233 9926306
6 Ashby HT Oesophageal obstruction in young children Proc R Soc Med 1920 13 146 8 10.1177/003591572001301940
7 Johnston JB Clagett OT McDonald JR Smooth-muscle tumours of the oesophagus Thorax 1953 8 251 65 10.1136/thx.8.4.251 13122653
8 Lee LS Nance M Kaiser LR et al Familial massive leiomyoma with esophageal leiomyomatosis: an unusual presentation in a father and his 2 daughters J Pediatr Surg 2005 40 e29 32 10.1016/j.jpedsurg.2005.02.016
9 Guthrie KJ Idiopathic muscular hypertrophy of oesophagus, pylorus, duodenum and jejunum in a young girl Arch Dis Child 1945 20 176 8 10.1136/adc.20.104.176
10 García Torres R Guarner V Leiomyomatosis of the esophagus, tracheo-bronchi and genitals associated with alport type hereditary nephropathy: a new syndrome Rev Gastroenterol Mex 1983 48 163 70 6658296
11 Pujol J Parés D Mora L et al Diagnosis and management of diffuse leiomyomatosis of the oesophagus Dis Esoph 2000 13 169 71 10.1046/j.1442-2050.2000.00107.x
12 Azzie G Bensoussan A Spitz L The association of anorectal leiomyomatosis and diffuse oesophageal leiomyomatosis Pediatr Surg Int 2003 19 424 6 10.1007/s00383-003-0955-z 12942269
13 Bacha D Ferjaoui W Zran M et al Pulmonary benign metastasizing leiomyoma in patient with esophageal and anorectal leiomyomatosis Ro Med J 2022 69 30 4 10.37897/RMJ.2022.1.6
14 Levine MS Buck JL Pantongrag-Brown L et al Esophageal leiomyomatosis Radiology 1996 199 533 6 10.1148/radiology.199.2.8668807 8668807
15 Rapp JB Ciullo S Mallon MG Diffuse esophageal leiomyomatosis: a case report with surgical correlation Clin Imaging 2019 58 161 5 10.1016/j.clinimag.2019.07.008 31377438
16 Harada A Maehata Y Esaki M Diffuse esophageal leiomyomatosis diagnosed by endoscopic ultrasonography and endoscopic mucosal cutting biopsy Dig Endosc 2017 29 395 6 10.1111/den.12852 28235133
17 Denne C Hahn H Steinborn M et al Ultrasound: a helpful diagnostic tool in esophageal leiomyomatosis with alport syndrome Ultraschall Med 2011 32 311 2 10.1055/s-0029-1245532 20614415
18 Ziogas IA Mylonas KS Tsoulfas G et al Diffuse esophageal leiomyomatosis in pediatric patients: a systematic review and quality of evidence assessment Eur J Pediatr Surg 2019 29 487 94 10.1055/s-0038-1676507 30577043
19 Mittal RK Kassab G Puckett JL et al Hypertrophy of the muscularis propria of the lower esophageal sphincter and the body of the esophagus in patients with primary motility disorders of the esophagus Am J Gastroenterol 2003 98 1705 12 10.1111/j.1572-0241.2003.07587.x 12907322
20 Takahashi K Ishii Y Hayashi K et al Loss of peristalsis of the esophagus due to diffuse esophageal leiomyomatosis Endoscopy 2017 49 E95 6 10.1055/s-0043-100691 28192805
