Temporal bone findings in trisomy 13 with cyclopia

Temporal bone findings in a fetus with trisomy 13 syndrome and cyclopia may be histopathologically characterized by the dysplasia of bony and membranous labyrinth and of the nervous system. In the left ear, there was a shortened cochlea housing a malformed Corti's organ appearing as a ribbonlike structure, an unexpected canal running obliquely through the scala tympani, a peculiar shape of the utricular macula and posterior canal crista, and a delayed ossifying process in the otic capsule. The poor development of the structures in the seventh and eighth nerves and their ganglions was observed in both ears. The type of anomaly can be classified as Mondini or Mondini-Alexander. The several anomalies might involve the organs that begin to develop during the period from five to eight gestational weeks.     

Temporal bone histopathologic findings in partial trisomy 13 and partial trisomy 14

OBJECTIVE: To describe temporal bone histopathology in an infant with partial trisomies of chromosomes 13 and 14. METHODS: Temporal bones were taken at autopsy from a 7-day-old neonate who has both partial trisomy 13 and partial trisomy 14. The right temporal bone was embedded in celloidin and sections were cut for microscopic examination. The left temporal bone was studied by microdissection. The middle ear was examined and the inner ear sensory organs dissected for study by light microscopy. RESULTS: The external auditory canal was stenotic in both ears. Remnants of mesenchymal tissue were present in the middle ear cavity. The middle ear ossicles were normal except that both stapes were malformed with a single crus and a small footplate. Both facial nerve canals were dehiscent in the region of the oval window. The cochlea was malformed bilaterally; a scala communis was present and the basilar membrane was abnormally short. No loss of sensory cells was observed in either cochlea. Blood vessels were found traversing scala vestibuli and there were cystic lesions in the stria vascularis and spiral ligament. In the middle cochlear turn, the bony wall of scala vestibuli and the osseous spiral lamina were covered by a substantial layer of connective tissue which appeared to be an extension of the spiral ligament. This is an unusual finding which, to the authors' knowledge, has not been previously reported. In the vestibular apparatus a wide communication was present between the saccule and utricle. CONCLUSIONS: As this study demonstrates, abnormalities of the external, middle, and inner ear may occur in cases of partial trisomy 13 and partial trisomy 14. Both temporal bone findings and clinical features in partial trisomy 13 and partial trisomy 14 to some degree overlap with those of trisomy 13, partial trisomy 13 and partial trisomy 14.     

Temporal bone histopathology in trisomy 22

Trisomy 22 has multiple physical anomalies, and aural malformations are commonly associated with trisomy 22. However, there has been only one report describing the temporal bone histopathology in trisomy 22. Our case is the second reported temporal bone histopathology of trisomy 22. Aural anomalies in this case were less serious than those earlier described, though showing Mondini dysplasia of the bony and membranous labyrinth. Deafness in patients with trisomy 22 may manifest sensorineural, conductive or mixed hearing losses, and/or vestibular dysfunction of varying degrees, according to the site and severity of aural anomalies.     

Temporal bone findings in VATER syndrome

The temporal bone findings of a patient with VATER syndrome are reported. The VATER syndrome is a nonrandom association of anomalies including vertebral, anal, tracheoesophageal, radial, and renal defects. This patient had multiple congenital anomalies: tracheal agenesis with associated laryngoesophageal cleft and tracheoesophageal fistula, tetralogy of Fallot, single umbilical artery, and imperforate anus with cloaca. To our knowledge, there have been no reports of the temporal bone findings in the VATER syndrome. Our patient had anomalous configuration of lateral semicircular canal and an abnormally high location of the utricle and saccule. The VATER syndrome seems to be due to faulty mesodermal development during the first five weeks of gestation, which, according to the findings reported here, can also involve the temporal bones as well.     

Temporal bone histopathologic findings in Down's syndrome

We report the results of a histopathologic study of 12 temporal bones from seven patients with Down's syndrome and of a dimensional study of the cochlea and the vestibular apparatuses of most of these specimens. Histopathologic study disclosed numerous abnormalities of the middle ear but only a limited number of inner ear abnormalities. The dimensional study showed that, while in the majority of cases the cochlea was shortened, most of the vestibular measurements were within the normal range. We also discuss hearing loss in patients with Down's syndrome and present our hypothesis that remnants of mesenchymal tissue in the round window niche might cause a certain degree of conductive hearing loss in such cases.     

Temporal bone histopathologic findings in drowning victims

The human temporal bones of five drowning victims, the largest such series, to our knowledge, were evaluated to determine what histopathologic changes occurred. Thickening of the periosteal epithelium, especially on the surgical dome of the otic capsule, was evident in all cases. There was also hemorrhage in the middle ear cavity in four of the cases. In the fifth case, a cholesteatoma and ruptured tympanic membrane were observed, but there was no evidence of hemorrhage. It is proposed that an intact tympanic membrane is needed to create sufficient negative pressure in the middle ear cavity to cause rupture of the blood vessels and hemorrhage. Such bleeding is indicative of drowning when the tympanic membrane is intact.     

Temporal bone histopathologic findings in Alagille's syndrome

Six temporal bones obtained from four individuals with Alagille's syndrome, aged 4 months and 3, 6, and 7 years, were studied histopathologically. The external auditory canals and tympanic membranes were normal. Although the stapes, the interossicular joints, and the subarcuate fossae were slightly underdeveloped in the majority of cases, the other structures in the middle ear were almost normal. However, severe anomalies were observed in structures in the inner ear. In all cases, both the bony and membranous structures of the posterior semicircular canal were partially or totally absent, and, in three ears, those of the anterior semicircular canal were also partially absent; the lateral semicircular canal, however, was normal in all cases. The cochlea was observed to be shortened in only one case.     

Temporal bone imaging findings in Waardenburg's syndrome

OBJECTIVE: (a) To report computed tomography findings of eight new cases with Waardenburg's syndrome (WS) type I and review reported temporal bone radiographic and histopathological findings in WS with hearing loss; (b) To determine the frequency of inner ear pathologies that may contraindicate cochlear implantation. METHODS: A review of 1166 pediatric patients with sensorineural hearing loss revealed 12 cases (1%) with WS, whose family screenings disclosed additional 12 subjects with the same disorder. Among these 24 cases, eight had WS type I and were subjected to computed tomography scanning of temporal bone. Imaging findings of 28 cases reported previously in English literature were evaluated together with our eight patients. RESULTS: Malformation of the inner ear was found in none of the nine WS type I cases evaluated here, while the frequency of internal acoustic canal malformation was 11%. Regardless of the subtypes of the syndrome, 6 of 36 cases (17%) had radiological abnormality of the inner ear. Malformation and/or absence of the semicircular canals were the most common congenital abnormality of the inner ear. Hypoplasia of the cochlea was present in 3 of 36 cases (8%). CONCLUSIONS: Abnormality of bony labyrinth in WS with congenital deafness is not a frequent finding, particularly in WS type I. Therefore, the otologist and audiologist must keep in mind that most of these cases are suitable for cochlear implantation regarding inner ear anatomy.     

Temporal bone findings in pierre robin syndrome

This is the first complete report on the histopathologic study of the temporal bones from an infant with a well-documented Pierre Robin syndrome (micrognathia, glossoptosis and cleft palate), demonstrating multiple middle and inner ear anomalies. The anomalies are basically architectural malformations rather than neural or end organ developmental anomalies. The anomalies in this case, except for a few points, are somewhat similar in both ears. Multiple anomalies include: abnormal narrowing of the cms commune-utricle junction, superiorly located cms commune and posterior semicircular canal, underdeveloped modiolus, absence of the bony septum between the middle and apical coil (existence of scala communis in left ear), abnormally small internal auditory meatus, and abnormal direction of internal auditory canal, large cartilaginous mass around the superior semicircular canal and in the tympanic end of the fissula ante fenestram, small facial nerve, large facial bony canal dehiscence, anomalic stapes, etc.     

Temporal bone findings in cryptococcal meningitis.

A 19-year-old woman with cryptococcal meningitis died as a result of her disease, in spite of both intravenous and intraventricular administration of amphotericin B. Gross and microscopic examinations revealed multiple cysts containing Cryptococcus neoformans within the central nervous system. Studies of the temporal bones revealed both neural and end organ destruction with the presence of Cryptococcus when stained by Gomori methenamine silver nitrate method. We present the results of audiometric and vestibular examinations. The case history depicts a progressive neurological involvement by Cryptococcus.     

Temporal bone findings in central nervous system leukemia

Central nervous system (CNS) leukemia is a pathologic condition whereby leukemic cells enter the cerebrospinal fluid (CSF) causing meningeal irritation syndrome. Temporal bone findings in the case of a 32-year-old man who died of CNS leukemia are presented. He complained of fullness of the ear 4 months prior to death and of dizziness 1 month prior to death. Leukemic cells were seen to have infiltrated the scala tympani of the basal turn in the cochlea, the saccule, and posterior semicircular canal along the vestibulocochlear nerve.     

Temporal bone histopathological findings in campomelic dysplasia.

Both temporal bones of a newborn (35 gestational weeks old) with campomelic syndrome were studied histopathologically. This is to our knowledge the second temporal bone report (third case) of this syndrome. The findings included: abnormal cartilagenous and osseous tissues and abnormality in the globuli interossei in the otic capsule; deformities of the vestibule and semicircular canals, probably due to compression by the abnormal cartilaginous tissue; hypoplastic cochlea and semicircular canals; aberrant course of the facial nerve; wide dehiscence of the facial canal in the tympanic portion; slight hypoplasia of the malleus and anomalies in the incus and stapes; and large epitympanic space. These findings closely resembled those of the first report, and suggest that: 1) campomelic dysplasia is a definite disease entity with consistent pathogenesis, and 2) similar otologic manifestations may be expected in the majority of patients with this syndrome.     

Temporal bone findings in two cases of head injury

Temporal bone findings in two cases of head injury are reported. In one patient, longitudinal fractures occurred in both temporal bones, and extended to the middle ear bilaterally. Bleeding was seen in the tympanic cavity, mastoid air cells, internal auditory meatus and facial nerve canal. Bleeding was observed in the scala tympani, cochlear aqueduct and endolymphatic sac, but there were no fractures. In the other patient, bleeding was seen in the internal auditory meatus and facial nerve canal. In the right ear, endolymphatic hydrops was observed in all turns of the cochlea.     

Temporal bone findings in a case of otopalatodigital syndrome

The principal features of the otopalatodigital syndrome are hearing loss, cleft palate, and skeletal dysplasia of the hands and feet. The right temporal bone was acquired from a boy with this syndrome who died at the age of 2 1/2 years. Behavioral audiometry had indicated a conductive hearing loss, with probable near-normal sensorineural function; brainstem evoked response audiometry indicated a mild sensorineural hearing loss. Histologic studies of the temporal bone revealed dysmorphic features in both the middle ear and the bony labyrinth. The ossicles were deformed, the stapes was fixed, and no round window was present. A defect of the modiolus resulted in a wide communication between the subarachnoid space of the internal auditory canal and the scala vestibuli. These anomalies would clearly have frustrated any attempt to improve the patient's hearing through reconstructive middle ear surgery.     

Temporal bone pathology findings due to drowning.

It has been reported that anoxia due to near-drowning or near-suffocation causes brain damage but not inner ear damage. On the other hand, it has been shown that brain death causes both brain damage and inner ear damage. However, studies of temporal bone pathology resulting from sudden death due to drowning are few. We studied temporal bone pathology in six cases of individuals who died of accidents due to drowning. In all temporal bones examined, we found extensive congestion petechiae and haemorrhage in the vessels in the mucosal layers of the middle ear and mastoid air cells, as well as in the vessels around the facial nerve and carotid canal. In the inner ear, there was no abnormality in Corti's organ or the vestibular organs, except in one case who died in the bath. Our findings suggest that petechiae haemorrhage or congestion in the vessels of the mucosal layer and the vessels themselves of the middle ear occurs upon acute death due to drowning.     

Temporal bone findings in multiple endocrine neoplasia type 2B

To our knowledge, present case is the first published report of temporal bone findings in multiple endocrine neoplasia type 2B (MEN-2B). We describe a 43-year-old Japanese man with medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuroma and a Marfanoid body habitus. The collateral adrenal tumors and MTC were removed surgically. However, 14 years after surgery, the MTC and pheochromocytoma recurred and the patient died of intracranial hemorrhage due to hypertension. During the autopsy, metastatic MTC was detected in the liver, lungs, kidneys, pancreas and cervical lymph nodes. Recurrent pheochromocytoma was present in the right kidney. Mucosal neuromas were found in the tongue, gastrointestinal tract and vesical nerve plexus. The following histopathological findings were seen in both temporal bones: metastatic MTC was found as well as neuromas and the cochlear aqueduct was widely patent. Received: 4 January 1999 / Accepted: 16 December 1999     

Temporal bone findings in a family with branchio-oto-renal syndrome (BOR)

A family group with confirmed branchio-oto-renal (BOR) syndrome was investigated in this study. Computerized tomography of the temporal bones has demonstrated that the malformations of the inner ear consist of hypoplastic structural changes within the cochlea with reduced vertical diameters, and absent or hypoplastic semicircular canals and normal endolymphatic ducts. It is concluded that in the present cases, the Mondini malformation of the cochlea is not associated with the BOR syndrome.     

Histologic findings in the temporal bone in trisomy D (D/D translocation)

The temporal bones of an infant in whom the diagnosis of unblaanced trisomy D (D/D translocation) had been made by chromosomal analysis during life were studied histologically. Most of the findings resembled those that have been described by others in trisomy D (13-15) syndrome. A previously unreported abnoramlity was substrial edema displacing the stria vascularis. The importance of this finding remains to be defined by further study.