Lymphangioma of the skull base bones leading to cerebrospinal fluid rhinorrhea.

Lymphangioma localized to the bones of the skull base is rare. The authors report herein the case of a 5-year-old boy who presented with lymphangioma of the bone, localized to the skull base and leading to cerebrospinal fluid (CSF) rhinorrhea with meningitis. Neuroimaging demonstrated lytic destruction with a cyst in the right middle skull base. The patient was successfully treated with resection of the tumor and prevention of CSF leakage. Histopathological examination revealed a lymphangioma. An enlarging lymphangioma can lead to bone destruction. A differential diagnosis of a lytic lesion for a cyst at the skull base is important for proper case management.

Proposal of a novel method to evaluate anastomotic tension in esophageal atresia with a distal tracheoesophageal fistula.

Anastomotic tension with the potential to lead to post-operative complication is usually evaluated using gap length before anastomosis in patients with esophageal atresia and a distal tracheoesophageal fistula (EA with a TEF). However a uniform, accurate measurement of gap length is not possible and estimation of the length the delicate distal esophageal stump is stretched by the anastomosis may have greater utility. The aim of this paper was to propose a novel method to evaluate the anastomotic tension in EA with a TEF. Forty consecutive patients having EA with a TEF were studied. Primary anastomosis without gastrostomy was performed in all cases. When the TEF was cut off, the most proximal site of the tracheal side was marked using a tiny metallic clip. When anastomosis was completed, the distance from the clip to the anastomotic site was measured as the stretched length. On the esophagram taken subsequently, the same distance was measured, together with the distance from the clip to the esophago-cardiac junction as the original distal esophageal length. The stretching ratio was calculated by dividing the former by the latter. The stretched length on esophagram (median: 3.0 mm, range: -12 to 21) was significantly correlated with that measured during surgery (median: 2.3 mm, range; -14 to 15) (r = 0.96, P < 0.0001). The median of original distal esophageal lengths was 60.0 mm (range: 35-80). The stretching ratio was significantly correlated with the stretched length, and the number of the stretching ratio as a percentage corresponded to about double the number of the stretched length on esophagram in millimeters (y = 1.91x + 0.58, r = 0.98, P<0.0001). Anastomotic leakage and recurrence of TEF were not experienced. In patients complicated with gastroesophageal reflux (GER), the site of TEF was significantly more distal as compared with the other cases [median (range): 5.0th (4.0-6.0) vs 3.5th (1.5-5.0) thoracic vertebral level, P<0.009]. The stretched length and the stretching ratio were also longer and larger, respectively [median (range): 10.0 mm (6-21) vs 2.0 (-12 to 14) mm, P<0.008, 17.3% (12.7-47.7) vs 2.9% (-16.4 to 29.8)%, P<0.018). Similar tendencies were observed for patients complicated with stricture. Estimation of the stretched length of the distal esophageal stump is useful to evaluate the anastomotic tension. If the stretched length is more than 10 mm, it will be necessary to consider the possibility that stricture or GER may arise afterwards.

Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome.

BACKGROUND/PURPOSE: Patients with zinc finger homeo box 1B (ZFHX1B) mutations or deletions develop multiple congenital anomalies including Hirschsprung disease, known as Mowat-Wilson syndrome (MWS). In this study, we investigated variations in the enteric neural plexus abnormalities in MWS using morphometry-based histopathologic analysis. METHODS: Seven patients with MWS (3 with mutations in exon 8 of ZFHX1B and 4 with deletions) who had undergone modified Duhamel's operations for Hirschsprung disease were examined. Surgically resected rectosigmoid specimens were analyzed morphometrically. RESULTS: The length of the aganglionic segment was longer than 3 cm in all the patients with deletions. In 3 patients with mutations, the aganglionic region was not detected in the surgically resected specimens; however, the parameters of the ganglions and plexus were significantly smaller than those of controls (cloaca and aproctia), indicative of a transitional zone. Variation in the severity of pathological changes among the 3 patients with mutations was also noted. CONCLUSIONS: The variations in myenteric plexus pathologies in MWS appear to be caused by both variations in ZFHX1B abnormalities and epigenetic factors.

Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality.

BACKGROUND/PURPOSE: The aim of this report is to describe the pattern of similarities among the patients, exemplifying a newly recognized form of Hirschsprung's disease (HSCR) caused by mutations of ZFHX1B encoding Smad interacting protein-1. METHODS: Fluorescence in situ hybridization (FISH) using several cDNAs and RP11-BAC clones and mutation gene scanning using direct nucleotide sequencing analysis of polymerase chain reaction (PCR) were conducted. Personal records of the patients also were analyzed retrospectively to confirm the clinical features. RESULTS: All the patients represented isolated cases without any familial tendency. Aganglionic segments were limited to the recto-sigmoid colon in 3 cases and the rectum in one. Chromosomal screening found normal karyotypes in all cases except one, in whom a translocation between chromosomes 2 and 13 was detected. In addition to HSCR, characteristic facial appearance (hypertelorism with strabismus and wide nasal bridge), microcephaly with epilepsy, and severe physical and mental disabilities were found in all the patients. FISH for the patient having the chromosomal abnormality showed that about a 5-Mb cytogenetic deletion flanked at the 2q22 translocation breakpoint. Among 3 genes mapping to this deleted region, 2 nonsense mutations and a 4-base pair deletion were detected in ZFHX1B. CONCLUSIONS: The clinical features of the patients have surprising resemblance and constitute a wide spectrum of neurocristopathies. These findings suggest that the ZFHX1B may be a very important gene for normal embryonic neural crest development. These also indicate that the HSCR can be regarded as a congenital malformation with a background of a multigenetic neurocristopathy. It is of great interest that mutations were located at the same spot (exon 8) of ZFHX1B in 3 of 4 cases, probably accounting for the unique clinical features of this newly recognized form of HSCR.