Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: Branchio-oto-renal syndrome or hemifacial microsomia with additional findings

To the Editor:

Branchio-oto-renal syndrome (BOR) which was first described by Melnick et al. [1975] is an autosomal dominant genetic disorder characterized by hearing loss, preauricular pits, branchial fistulae, pinnae deformities, external auditory canal stenosis, and renal anomalies. The prevalence of BOR syndrome is estimated as 1:40,000 [Fraser et al., 1980]. Hemifacial microsomia (HFM) is a mostly sporadic disorder, that has overlapping features with BOR syndrome and variable combinations of facial, ear, oral, and vertebral anomalies, referred to as the oculoauriculovertebral “spectrum” (OAV).

Here we report a girl with the malformation of the left-sided external ear, mandibular hypoplasia, and unilateral renal agenesis. Additionally she has sliding esophageal hernia and ectopic pancreatic tissue in the stomach, which has not been described in BOR syndrome or the HFM/OAV group.

The propositus was 10 year-old female who was born at term to healthy non-consanguineous parents. The pregnancy was uneventful and there was no history of exposure to any known teratogen or illness. She was the first child and her mother had two spontaneous abortions in the first trimester of her pregnancy. No similar case was described in the family. She was admitted to the hospital for structural defects of external ear, severe cough, expectoration, and hemathemesis (Fig. 1).

On clinical examination she weighed 37 kg (97th centile) and her height was 127 cm (50th–75th centile). She had external auditory canal agenesis, mandibular hypoplasia on the left side, micrognathia, retrognathia, and syndactyly between 2nd and 3rd fingers. Laboratory tests: CBC, routine urinalysis, blood electrolytes, renal function tests, and liver function tests were normal. Hearing loss of 60 dB was assessed by audiometry in the left ear.

Temporal bone three-dimensional CT showed external and middle auditory meatus agenesis on the left side. Posteroanterior and lateral radiographs of the entire spine for vertebral anomalies and thoracic computed tomography (CT) were normal. Left kidney was not visualized by ultrasonography. IVP and abdominal CT confirmed unilateral renal agenesis. Esophagoscopy showed esophagitis. Manometric studies revealed gastroesophageal reflux with reflux index of 14%. On barium meal imaging sliding type hiatal hernia was detected. Nonulcerated, round, submucosal mass with a central umblication in the antral region of the stomach was identified by endoscopy. Karyotype was normal, 46,XX at the 550 band level.

BOR is an autosomal dominant disorder which cardinal findings are external, middle and inner ear malformations, branchial cleft sinuses, cervical fistulas, hearing loss, and renal anomalies. Varying degrees of phenotypic manifestations may occur. Uncommon findings include benign intracranial tumor, facial nerve paresis, preauricular tag, lacrimal duct aplasia, cleft palate, retrognathia, euthyroid goitre, gustatory lacrimation, nonrotation of gastrointestinal tract, and congenital hip dysplasia [Preisch et al., 1985; Rollnick and Kaye, 1985; Joseph et al., 1986; Chen et al., 1995].

HFM is the variable combinations of facial, ear, and vertebral anomalies such as maxillary and mandibular region hypoplasia, microsomia, external and middle ear anomalies with deafness, hemivertebrae, or hypoplasia of vertebrae. Renal agenesis is an occasional abnormality [Rollnick and Kaye, 1985].

Both BOR syndrome and HFM have common findings and show great variability. Rollnick and Kaye [1985] suggested that HFM may constitute a component toward the severe end of the spectrum of the BOR syndrome. Radiographs of entire spine to demonstrate a vertebral anomaly, which could support HFM as the diagnosis, and renal ultrasonography, CT, and renal function tests for renal dysplasia, which could support BOR syndrome, were normal in our case.

In the patient presented, branchial cleft fistulae could not be detected. Although the frequency of branchial cleft fistulae in cases with BOR syndrome varies and shows variable expressivity within the condition, it is hard to make a secure diagnosis of BOR syndrome without branchial cleft fistulae. Chest X-ray, endoscopy, and manometric studies were performed because of persistent cough, expectoration, and hematemesis in our case, and all three image techniques showed sliding type hiatus hernia and esophagitis, which could be the result of hiatal hernia. The endoscopic appearance of the lesion in the antral region of the stomach was consistent with ectopic pancreatic tissue, which rarely presents with symptoms. It occurs in approximately 2% of the population, and not commonly reported in association with other congenital anomalies [Strobel et al., 1978]. It is most common in gastric duplications and upper gastrointestinal tract is an unusual localization, which may be complicated by bleeding or mucosal ulceration [Macpherson, 1993]. No symptom of ectopic pancreatic tissue was present in our case, and it was a coincidental finding in the endoscopic examination. As of now there has been no reported case of BOR syndrome or HFM with sliding type hiatal hernia and ectopic pancreatic tissue in the literature even though gastroesophageal reflux is common in HFM/OAV. Raspino et al. [1988] suggested the necessity for a careful search for renal anomalies in cases with aural and/or branchial abnormalities. Since BOR syndrome and HFM have many anomalies sharing in common, minor manifestations may be overlooked in the differential diagnosis as it is suggested by Rollnick and Kaye [1985]. As shown in the pedigree of Stoll et al. [1983] all carriers may not present all features of the syndrome but otological and renal investigations should be performed in patients with preauricular pits and branchial clefts. In our patient ultrasonography examination and CT revealed renal agenesis on the left side and renal hypertrophy on the right side, but no renal dysplasia has been detected, which could make BOR syndrome more plausible.

In conclusion, we report a patient who presents with findings of both BOR syndrome and HFM with sliding type hiatal hernia and ectopic pancreatic tissue. We emphasize the importance of a detailed examination of internal organs associated with branchial arch, gastrointestinal system, and urinary tract in patients with the findings of BOR syndrome or HFM.